33RD ANNUAL NATIONAL MPS SOCIETY FAMILY CONFERENCE DEC. 19–21, 2019 • ORLANDO, FL #mpsfamily2019 MISSION STATEMENT The National MPS Society exists to cure, support and advocate for MPS and ML.
Contents MPS and ML
Chair Letter 1 Mucopolysaccharidoses (MPS) and Mucolipidosis (ML) are genetic lysosomal storage diseases (LSD) caused by the body’s inability to Board of Directors/Staff 2 produce specific enzymes. General Information 3 MPS I MPS IV Hotel Layout 5 MPS I H Hurler MPS IV A Morquio A Schedule 6 MPS I S Scheie Enzyme / Galactose 6-sulfatase MPS IV B Morquio B Speakers 10 MPS I H-S Hurler-Scheie Enzyme / a-L-Iduronidase Enzyme / B-Galactosidase Attendees 30 MPS VI Thank You to Our Sponsors 36 MPS II MPS II Hunter MPS VI Maroteaux-Lamy Notes 38 Enzyme / Iduronate sulfatase Enzyme / (arylsulfatase B) N-Acetylgalac-tosamine 4-sulfatase MPS Jingle Bell Run/Walk 41 MPS III Upcoming Events 42 MPS VII MPS III A Sanfilippo A Enzyme / Heparan N-sulfatase MPS VII Sly Enzyme / B-Glucuronidase MPS III B Sanfilippo B Enzyme / a-N- Acetylglucosaminidase MPS IX MPS III C Sanfilippo C Enzyme / Hyaluronidase Enzyme / Acetyl CoA: a-glycosaminide acetyltransferase ML II/III MPS III D Sanfilippo D Enzyme / N-Acetylglucosamine ML II I-Cell 6-sulfatase ML III Psuedo-Hurler polydystrophy Enzyme / N-acetylglucosamine-1- phosphotransferase Chair Letter
I am so excited to be at the National MPS Society’s 33rd Annual Family Conference at the most magical place on earth!
Our family conference has a special place in my heart. I dearly treasure the time I spend with all of you and the entire MPS and ML community each year. Eight years ago, I attended my first family conference, just a few weeks after my son Jack was diagnosed with MPS II. The support, encouragement and education I received at that conference changed our lives forever. While I was overwhelmed, I was also filled with hope and extreme gratitude for this amazing community and all the support it provides.
Endless opportunities abound at this conference, and I encourage you to take full advantage of your time here. This is the time to share your stories, ask questions, learn about treatment options and emerging research, and spend time cherishing old friends and making new ones.
All of our stories illustrate the different paths that have brought us here, but what joins us together as a community is a special and unique bond—the MPS journey. I look forward to getting to know each of you, hearing your stories, and sharing all the great news on emerging technology, research and the amazing endeavors of the National MPS Society. Together, we will continue to build this community and lead the way to a better future for all those impacted by these devastating diseases.
In the words of Walt Disney, “If you can dream it, you can do it.” May the magic of Disney inspire and uplift you during our 2019 conference!
Lisa P. Todd Chairman, National MPS Society
Thank you to Grey Chapin, B.L.A.I.R. Connection, who with the support of her network generously donated all of the family gift bags. Thank you, Grey!
Thank you to the 33rd Annual Family Conference committee members:
Amy Holland Lynn Hopkins Kris Klenke Amber Mongan
Conference Registration and Coordinators:
Katelyn Blackman Leslie Urdaneta
#mpsfamily2019 – 1 – Board of Directors
Lisa Todd, Chairman Kristine Klenke STAFF 11111 Jordan NE 7604 Sherry Creek Road Albuquerque, NM 87122 Worden, IL 62097 Terri Klein, President and CEO Home: 505.797.3603 Home: 618.888.2204 [email protected] Lisa Cell: 505.263.9593 Cell: 618.718.3295 [email protected] [email protected] Brian Buechler, Director of Development Steve Holland, Vice Chairman Jason Madison [email protected] Amy Holland 236½ North 11th St. 4908 Barbara Road Allentown, PA 18194 Leslie Urdaneta, Family Program River Oaks, TX 76114 Cell: 718.925.5860 Coordinator Steve Cell: 817.874.7461 [email protected] [email protected] Amy Cell: 817.874.7460 [email protected] Amber Mongan Katelyn Blackman, Development and [email protected] 5330 Saratoga St. Program Coordinator Eugene, OR 97405 [email protected] Lynn Hopkins, Treasurer 509.475.6453 Scott Hopkins [email protected] Rebecca Luchenbill, Administrative 6210 Parima St. Specialist Long Beach, CA 90803 Austin Noll [email protected] Lynn Cell: 310.210.9177 19715 North Shore Drive [email protected] Spring Lake, MI 49456 Coreen Gray, Family Support Lead [email protected] Cell: 408.438.8519 [email protected] [email protected] Christine Tippett, Secretary Angela Guajardo, Controller 6 Glenridge Drive Sheri Wise [email protected] Littleton, CO 80123 1941 Lariet Lane 303.408.2844 Del City, OK 73115 [email protected] Cell: 405.229.1133 [email protected] Stephanie Bozarth Austin Bozarth 1220 Daviswood Drive McLean, VA 22102 Home: 703.256.1980 Stephanie Cell: 202.257.7808 Austin Cell: 703.608.3999 [email protected] [email protected]
SCIENTIFIC ADVISORY BOARD
Matthew Ellinwood, DVM, PhD, chair John Hopwood, PhD Calogera Simonaro, PhD Alessandra D’Azzo, PhD William Mackenzie, MD William Sly, MD Lorne A. Clarke, MD Joseph Muenzer, MD, PhD Richard Steet, PhD Robert Desnick. MD PhD Elizabeth Neufeld, PhD Charles H. Vite, DVM, PhD Patricia Dickson, MD Matthew Pendleton, PhD Steven Walkley, DVM, PhD Julie Eisengart, PhD Lynda Polgreen, MD, MS Chester Whitley, PhD, MD Paul Harmatz, MD Kathy Ponder, MD John H. Wolfe, VMD, PhD Mark Haskins, VMD, PhD Mark Sands, PhD Klane White, MD, MSc Kim Hemsley, PhD Edward Schuchman, PhD David Wenger, PhD
#mpsfamily2019 – 2 – General Information
NAME BADGE POLICY SCHEDULE Attendees must wear their registration name badge at all Please note that the included schedule is subject to change. times to gain access to meetings, sessions and meals. CONTACT INFORMATION NATIONAL MPS SOCIETY CHILD CARE POLICY National MPS Society The National MPS Society offers complimentary child care, Physical: 1007 Slater Road, Suite 220, Durham, NC 27703 Camp Courage, at our conference. This enables parents Mailing: P.O. Box 14686, Durham, NC 27709-4686 and caregivers to attend and participate in the conference t: 877.MPS.1001 • p: 919.806.0101 • f: 919.806.2055 presentations and concurrent sessions, confident that their email: [email protected] • web: www.mpssociety.org children are being cared for in a safe environment. Camp Courage is offered for children age 2 and older. All children, MEDICAL FACILITIES/SERVICES including children younger than 2, are welcome to join their Hospital/Emergency Room parents in the educational sessions as needed. Orlando Health Orlando Regional Medical Center We are excited to partner with KiddieCorp again this year. 52 W. Underwood St. Parents or caregivers must check in and check out each Orlando, FL 32806 child every time the child enters and leaves child care. www.orlandohealth.com Photo ID is required. One parent or caregiver must always 321.841.5111 remain in the meeting session rooms while their child is in child care. KiddieCorp must be able to reach the parent/ caregiver at all times. Children will receive wristbands indicating whether or not they can have snacks of crackers SOCIAL MEDIA and juice. Volunteers will not dispense prescription or over- Stay on top of things at the conference by following the-counter medication to children, or provide other food or @mpssociety on Twitter and Instagram and liking us on feedings. In addition, volunteers will not change diapers. Facebook. Join the conference conversation by using our The child care supervisor, the National MPS Society’s conference hashtag #mpsfamily2019. board of directors and staff are authorized to restrict a child from child care if it is determined that the child cannot be adequately cared for or if they are a danger to themselves or to others. Unfortunately, we are unable to provide one- on-one care, but we welcome a parent or caregiver who chooses to stay with the child while in child care.
Camp Courage Schedule Thursday, December 19 12:30 pm Camp Courage opens 4:40 pm Camp Courage closes 6:15 pm Camp Courage opens 9:40 pm Camp Courage closes Friday, December 20 11:45 am Camp Courage opens 5:35 pm Camp Courage closes Each child attending must be registered for the conference and for Camp Courage. A parent or caregiver must be registered for the conference and remain in the meeting sessions for the duration of Camp Courage.
#mpsfamily2019 – 3 – General Information
WORSHIP SERVICES Islam Islamic Center of Orlando Jama Masjid Assemblies of God 11543 Ruby Lake Road Faith Assembly of God www.icorlando.org 9307 Curry Ford Road 407.238.2700 www.faithassembly.org 407.275.8790 Jehovah’s Witness Kingdom Hall, Clear Lake Baptist 1701 S. Lee Ave. First Baptist Orlando www.jw.org 3000 South John Young Pkwy. 407.425.1125 www.firstorlando.com 407.425.2555 Jewish Southwest Orlando Jewish Congregation (Conservative) Buddhist 11200 S. Apopka-Vineland Road Vajrapani Kadampa Buddhist Center www.sojc.org 813 Montana St. 407.239.5444 www.meditationinorlando.org 407.896.3998 Congregation Ahavas Yisrael-Orthodox
708 Lake Howell Road Catholic 407.644.2500 Holy Family Catholic Church of Orlando 5125 S. Apopka-Vineland Road Congregation of Reform Judaism www.holyfamilyorlando.com 928 Malone Drive 407.876.2211 www.crjorlando.org
407.645.0444 Christian Science First Church of Christ, Scientist Lutheran 915 North Fern Creek Ave. Trinity Evangelical Lutheran Church www.christianscienceorlando.com 123 E. Livingston St. 407.896.0770 www.church.trinitydowntown.com
407.488.1919 Church of Jesus Christ of Latter-day Saints Orlando Florida Temple Methodist 9000 Windy Ridge Road First United Methodist Church of Orlando www.churchofjesuschrist.org/temples/details/orlando- 142 E. Jackson St. florida-temple www.firstchurchorlando.org 407.876.0022 407.849.6080
Episcopal Presbyterian Saint Michael’s Episcopal Church First Presbyterian Church of Orlando 2499 N. Westmoreland Drive 106 E. Church St. www.stmichaelschurch.com www.fpco.org 407.843.8448 407.423.3441
Evangelical Discovery Church 4400 S. Orange Ave. www.discoverychurch.org 407.855.3140
#mpsfamily2019 – 4 – HILTON ORLANDO LAKE BUENA VISTA FUNCTION SPACE LAYOUT Hotel Layout
#mpsfamily2019 – 5 – Schedule
THURSDAY, DECEMBER 19
TIME EVENT LOCATION 8:00 am – 12:00 pm Board of Directors Meeting Poinsettia/Quince 10:00 am – 1:00 pm Adults with MPS and ML meet and greet Hotel Lobby 12:00 pm – 8:00 pm Registration East/West 12:30 pm Camp Courage opens Salon I–IV 1:00 pm – 4:30 pm Photographer Salon V 1:00 pm - 10:00 pm Reflection Area 1:00 pm - 1:10 pm Welcome Presentation International Ballroom Lisa Todd, MPS II parent, chairman of the board, National MPS Society
Session 1: Keynote Speakers—A Spectrum of Diseases International Ballroom Trialing and Seeking Research Lisa Todd, MPS II parent, chairman of the board, National MPS Society 1:10 pm – 1:25 pm The Importance of Advocacy International Ballroom Isabel Bueso, MPS VI patient 1:25 pm – 1:40 pm Developing Individualized Therapies for an Unmet Need International Ballroom from a Patient Scientist Jennifer Klein, MS, scientist, ML III patient 1:40 pm – 1:45 pm Panel Questions International Ballroom Isabel Bueso, MPS VI patient Jennifer Klein, MS, scientist, ML III patient
Session 2: Disease Overview, Emerging Therapies, Answering International Ballroom Today’s Complex Questions Steve Holland, MPS I parent, vice chairman of the board, National MPS Society 1:45 pm – 2:15 pm Overview of the Mucopolysaccharidoses with a Science Twist International Ballroom Lorne Clarke, MD, CM, FRCPC, FCCMG, University of British Columbia 2:15 pm – 3:00 pm Gene Therapy/Gene Editing Today and Our Future International Ballroom Matthew Ellinwood, DVM, PhD, Iowa State University 3:00 pm – 3:30 pm Newborn Screening for MPS Disorders: What is It? International Ballroom The Role of Advocacy Barbara Burton, MD, Northwestern University 3:30 pm – 4:00 pm Neurocognitive Manifestations and Considerations in MPS International Ballroom Julie Eisengart, PhD, LP, University of Minnesota 4:00 pm – 4:10 pm Panel Questions International Ballroom Lorne Clarke, MD, CM, FRCPC, FCCMG, University of British Columbia Matthew Ellinwood, DVM, PhD, Iowa State University Barbara Burton, MD, Northwestern University Julie Eisengart, PhD, LP, University of Minnesota 4:10 pm – 4:20 pm MPS Research Pipeline and National MPS Society Research Program International Ballroom Matthew Ellinwood, DVM, PhD, Iowa State University 4:20 pm – 4:30 pm 2020 Researcher Award Nomination Opens—CARE and SARE Awards International Ballroom Lisa Todd, MPS II parent, chairman of the board, National MPS Society Terri Klein, president and CEO, National MPS Society #mpsfamily2019 continued – 6 – Schedule
TIME EVENT LOCATION 4:40 pm Camp Courage closes Salon I–IV 4:30 pm – 6:00 pm Welcome buffet dinner Palm I–II 4:30 pm – 6:00 pm Newly diagnosed family dinner (diagnosed in the last 12 months) Palm V Overview and Coping with MPS and ML Joseph Muenzer, MD, PhD, University of North Carolina, Medical Genetics Kendra Bjoraker, PhD, LP, 3:1 Neuropsychology Consultants 5:15 pm – 6:15 pm Disney character meet and greet Palm Foyer 6:15 pm Camp Courage opens Salon I–IV
Session 3: Breakout Sessions 6:30 pm – 8:00 pm MPS I Breakout Session Narcissus/Orange Blossom Steve and Amy Holland, MPS I parents, board of directors, National MPS Society Scott and Lynn Hopkins, MPS I parents, board of directors, National MPS Society 6:30 pm – 8:00 pm MPS II Breakout Session Salon VII Kris Klenke, MPS II parent, board of directors, National MPS Society Melissa Hogan, MPS II parent 6:30 pm – 8:00 pm MPS III Breakout Session Salon VI Angela Guajardo, MPS III parent 6:30 pm – 8:00 pm MPS IV Breakout Session Poinsettia/Quince Chris Tippett, MPS IV parent, board of directors, National MPS Society Stephanie Bozarth, MPS IV parent, board of directors, National MPS Society 6:30 pm – 8:00 pm MPS VI Breakout Session Magnolia Patricia Espinal, MPS VI patient 6:30 pm – 8:00 pm MPS VII Breakout Session Lily Leslie Urdaneta, Family Support coordinator, National MPS Society 6:30 pm – 8:00 pm ML Breakout Session Kahili Jennifer Klein, MS, scientist, ML III patient 6:30 pm – 9:30 pm Sibling Breakout Session Salon VIII Chelsey Klenke, MSW, MPS II sibling Helen Kirch, MPS III sibling 8:15 pm Adults with MPS and ML networking Hotel Lobby Jason Madison, MPS II patient, board of directors, National MPS Society Katelyn Blackman, development and program coordinator, National MPS Society 8:15 pm – 9:30 pm Mothers Breakout Session Salon VI Amy Holland, MPS I parent, board of directors, National MPS Society Lisa Todd, MPS II parent, chairman of the board, National MPS Society Stephanie Bozarth, MPS IV parent, board of directors, National MPS Society 8:15 pm – 9:30 pm Fathers Breakout Session Salon VII Austin Bozarth, MPS IV parent, board of directors, National MPS Society Steve Holland, MPS I parent, vice chairman of the board, National MPS Society 8:15 pm – 9:30 pm Siblings Breakout Session Salon VIII 8:15 pm – 9:30 pm Grandparents Breakout Session Narcissus/Orange Blossom 9:40 pm Camp Courage closes Salon I–IV
#mpsfamily2019 continued – 7 – Schedule
FRIDAY, DECEMBER 20
TIME EVENT LOCATION 6:30 am – 7:45 am Grab and go breakfast; board buses Grand Foyer 7:00 am – 11:00 am 5K Chip-timed run Falcon’s Fire Golf Club (offsite) 7:00 am – 11:00 am Memorial walk 7:00 am – 11:00 am Disney picnic lunch 11:45 am Camp Courage opens Salon I–IV 12:15 pm – 3:00 pm Photographer Salon V
Session 4: Treatment Options/Management of MPS Today— International Ballroom New Discoveries Lisa Todd, MPS II parent, chairman of the board, National MPS Society 12:00 pm – 12:30 pm What’s New with the Heart in MPS and ML? International Ballroom Elizabeth Braunlin, MD, PhD, University of Minnesota 12:30 pm – 1:20 pm Orthopedic Manifestations in Patients with MPS International Ballroom Klane White MD, MSc, Seattle Children’s Hospital Lynda Polgreen, MD, MS, Harbor-UCLA Medical Center 1:20 pm – 1:30 pm Panel Questions International Ballroom Elizabeth Braunlin, MD, PhD, University of Minnesota Klane White, MD, MSc, Seattle Children’s Hospital Lynda Polgreen, MD, MS, Harbor-UCLA Medical Center 1:30 pm – 2:00 pm The Role of Transplant/Gene Therapy in MPS Disorders International Ballroom Paul Orchard, MD, University of Minnesota 2:00 pm – 2:20 pm Corneal Transplantation in MPS International Ballroom Roberto Pineda II, MD, Massachusetts General Hospital 2:20 pm – 2:25 pm Panel Questions International Ballroom Paul Orchard, MD, University of Minnesota Roberto Pineda II, MD, Massachusetts General Hospital 2:15 pm – 3:15 pm Health break (runs concurrently) International Ballroom
Session 5: Clinical Trial Navigation, Treatments and Industry Updates International Ballroom Terri Klein, president and CEO, National MPS Society 2:30 pm – 2:50 pm Navigating Complexities of Clinical Trials International Ballroom Chester Whitley, PhD, MD, University of Minnesota 2:50 pm – 4:00 pm Industry Updates (10 minutes each) International Ballroom 2:50 pm – 3:00 pm REGENXBIO, Marie-Laure Nevoret, MD International Ballroom 3:00 pm – 3:10 pm Takeda Pharmaceuticals, Tony Frangie, AB, MBA International Ballroom 3:10 pm – 3:20 pm Sanofi Genzyme, R. Duane Clarke, II International Ballroom 3:20 pm – 3:30 pm Ultragenyx Pharmaceuticals, Deborah Marsden, MD International Ballroom 3:30 pm – 3:40 pm BioMarin and Allievex, Steve Maricich, MD, PhD International Ballroom 3:40 pm – 3:50 pm Abeona Therapeutics, Jodie Gillon International Ballroom 3:50 pm – 4:00 pm LYSOGENE and Sarepta Therapeutics, Samantha Parker, MBA International Ballroom
#mpsfamily2019 continued – 8 – Schedule
TIME EVENT LOCATION Session 6: Concurrent Sessions 4:00 pm – 4:45 pm Participation in Clinical Trials: What’s It All About? Salon VI Steve Smith, MS and MPS parent 4:00 pm – 4:45 pm The B.L.A.I.R. Connection Palm III Grey Chapin, MPS III sibling 4:00 pm – 4:45 pm CBD Oil and Benefits Salon V Mojan Zehtabichi, ND 4:00 pm – 4:45 pm Holistic Care for Your Family Salon VIII Sharyn Madison, MS, SCT, Courtland Reiki 4:00 pm – 4:45 pm Bereavement Poinsettia/Quince Kris Klenke, MPS II parent, board of directors, National MPS Society 4:00 pm – 4:45 pm Genetic Testing/Family Planning Salon VII Barbara Burton, MD, Northwestern University 4:45 pm – 5:30 pm Habits of Emotionally Resilient People Salon VII Nathalie Marie, MD 4:45 pm – 5:30 pm Participation in Clinical Trials: What’s It All About? Salon VI Steve Smith, MS and MPS parent 4:45 pm – 5:30 pm Bereavement Poinsettia/Quince Kris Klenke, MPS II parent, board of directors, National MPS Society 4:45 pm – 5:30 pm Navigating Medicaid and SSI Palm III Tom Wier, Social Security Administration 4:45 pm – 5:30 pm Holistic Care for Your Family Salon VIII Sharyn Madison, MS, SCT, Courtland Reiki 4:45 pm – 5:30 pm CBD Oil and Benefits Salon V Mojan Zehtabichi, ND 5:30 pm – 5:45 pm Remembrance Ceremony Pavillion 6:00 pm Camp Courage closes 6:30 pm 45th Anniversary Banquet Celebration and Awards International Ballroom 8:30 pm Sibling outing to Disney Springs (chaperoned) International Ballroom Hallway SATURDAY, DECEMBER 21
8:30 am – 9:30 am Breakfast Buffet Salon III 9:00 am – 3:45 pm SPIRIT Conference for Adults with MPS and ML (Separate registration required) Salon I and II 9:00 am – 9:30 am SPIRIT Conference Welcome Seth Rotberg 9:30 am – 10:30 am Working and SSI, Medicaid Tom Wier, Social Security Administration 10:30 am – 12:00 pm Understanding and Breaking Down the Psychosocial Barriers in Chronic Conditions Kendra Bjoraker, PhD, LP, 3:1 Neuropsychology Consultants 12:00 pm – 1:00 pm Lunch Break Salon III 1:00 pm – 1:45 pm Living Your Life with Purpose: Transitioning to Adulthood Kendra Bjoraker, PhD, LP, 3:1 Neuropsychology Consultants 1:45 pm – 2:30 pm Navigating Work and Internships, Transitioning from College to Career Seth Rotberg 2:30 pm – 3:15 pm CBD Oil and Its Benefits Mojan Zehtabchi, ND 3:15 pm – 3:45 pm Plant-based and Anti-inflammatory Diet Mojan Zehtabchi, ND #mpsfamily2019 – 9 – Speakers
Kendra J. Bjoraker Dr. Kendra J. Bjoraker is a pediatric neuropsychologist with specialized training and expertise in rare genetic diseases. She served as faculty at University of Minnesota and Children’s Hospital Colorado/University of Colorado, with extended studies in neurodegenerative diseases with further understanding of genetics, metabolism, white matter diseases and neuroimaging. While at Children’s Hospital Colorado, Dr. Bjoraker was an advisory member of Children’s Hospital Colorado Family Centered Medical Home and co-chair of clinical research for the Neuroscience Institute. She is a presenter, researcher and has extended publications in rare genetic diseases. Dr. Bjoraker has her own consulting business called 3:1 Neuropsychology Consultants, PLLC, located in Minneapolis. Her mission is to disseminate information for disease awareness and quality of life, consult on medical and educational issues, present at conferences, seminars and family meetings, and consult on neurocognitive and behavioral outcomes for natural history studies and clinical trials. Her interests include characterizing the natural history of diseases and the neurobehavioral phenotype(s) through neuropsychological evaluations and to identify the psychosocial issues in an effort to improve health outcomes that may alleviate some of the stressors associated with chronic illnesses.
Newly Diagnosed Family Dinner—Living and Coping with MPS and ML 4:30 pm, Dec. 19, Palm V
Developing a Growth Mind-Set: Health Self-Efficacy, Connecting and Breaking Down the Psychosocial Barriers 10:30 am, Dec. 21, Salon I and II
Rare diseases can present challenges, psychologically and emotionally, but not ones that are insurmountable. With a proactive approach to educating oneself on the impact on mental well-being, this talk will describe the biopsychosocial model/holistic approach to understanding the psychosocial barriers that may arise when living with a chronic condition such as MPS/ML. An examination of anxiety and depression is emphasized as they are influential factors interfering with day-to- day functioning. The importance of targeting interventions toward improving coping skills, social support and relationships will be addressed. Mental health professionals are a core part of the treatment team for a patient with a rare disease, necessitating greater awareness of this patient population in psychology.
Living Your Life with Purpose: Transitioning to Adulthood 1:00 pm, Dec. 21, Salon I and II
This talk will address the three main phases of a successful transition: transition planning and preparation, transfer of care, and integration into adult healthcare/transition completion. These lay the groundwork for positive health outcomes in adulthood. Advocacy skills will be highlighted to improve the ability of adults to manage their own health and effectively use health services.
#mpsfamily2019 – 10 – Speakers
Elizabeth Braunlin Elizabeth Braunlin, MD, PhD, is a professor of pediatrics at the University of Minnesota Medical School who practices at the University of Minnesota Masonic Children’s Hospital in Minneapolis. She received her MD and PhD degrees from the University of Minnesota. She has a special interest in the cardiac features of lysosomal storage diseases and, since 1983, has been a member of the Lysosomal Storage Disease Team caring for patients who come to the university for treatment. She has published articles on the clinical aspects of MPS and worked with international teams to develop treatment guidelines for MPS. Dr. Braunlin also works with scientists at the university on mouse models of MPS to determine basic underlying pathological mechanisms of these disorders. What’s New with the Heart in MPS and ML? 12:00 pm, Dec. 20, International Ballroom The heart is affected by faulty functioning of the lysosomes in all types of MPS and ML. Storage material accumulates in the heart muscle, cardiac valves, coronary arteries, the conduction system and the aorta. There are many factors that determine how much the heart is affected, such as the type of MPS or ML, the specific mutations within each type, and the age at diagnosis and treatment. This presentation will discuss the effects enzyme replacement therapy, bone marrow transplant and valve replacement have on cardiac issues of MPS and ML patients. It will outline appropriate cardiac evaluation at diagnosis, cholesterol screenings and recommended routine cardiologist appointments. The talk will also describe how newborn screening for MPS I and subsequent treatments can lessen cardiac issues, and should therefore be extended to other forms of MPS.
Isabel Bueso Isabel Bueso immigrated from Guatemala to the United States at age 7 to participate in a clinical trial for MPS VI. She is now 24 years old and a summa cum laude graduate of California State University East Bay, where she served as the director of associated students and created a scholarship to support students with rare diseases. For the past six years Isabel has advocated for the rare disease community. She has organized numerous rare disease events to educate the public about barriers faced by people with rare diseases. She has participated in the Speakers’ Bureau organized by the National MPS Society to advocate for MPS and ML on Capitol Hill during Rare Disease Week. On Aug. 7, 2019, Isabel was faced with an unexpected challenge when the deferred action program that enables people like her to receive critical care and participate in medical research in the United States abruptly ended. She was ordered to leave the country in 33 days or be deported. In the face of losing live-saving medical treatment at UCSF Benioff Children’s Hospital in Oakland, CA, Isabel spoke out. She appeared before Congress and inspired people to join the cause. As a result of her courage and leadership, Isabel and other patients across the country are no longer facing the immediate threat of deportation. She continues to fight to guarantee that all families seeking rare disease treatment remain in the country. The Importance of Advocacy 1:10 pm, Dec. 19, International Ballroom Isabel will talk about the importance of advocating for yourself and others. She will share her personal story and her advocacy initiatives. Isabel will take you on a journey that illustrates how things can change by using your voice to speak out. Advocacy is very empowering, and by advocating together for the rare disease community we will create more change collectively than by using one small voice. #mpsfamily2019 – 11 – Speakers
Barbara K. Burton Dr. Barbara K. Burton is a professor of pediatrics at the Northwestern University Feinberg School of Medicine, and clinical practice director in the Division of Genetics, Birth Defects and Metabolism at the Ann & Robert H. Lurie Children’s Hospital of Chicago. She is board certified in pediatrics, clinical genetics and clinical biochemical genetics. Her clinical and research interests are focused on inborn errors of metabolism and newborn screening. Dr. Burton is an investigator in numerous natural history studies and clinical trials of new therapies for various metabolic disorders, including many of the lysosomal storage disorders. She has published more than 200 peer-reviewed articles, 50 chapters in books and is an editor of two textbooks.
Dr. Burton is active in professional organizations and is a past president of the Society for Inherited Metabolic Disorders and the Chicago Pediatric Society. She served for four years as a member of the Secretary’s Advisory Committee on Heritable Disorders in Infants and Children, the federal advisory committee that makes recommendations regarding newborn screening in the United States, and currently serves as chairman of the Newborn Screening Advisory Committee of the Illinois Department of Public Health. She is an emeritus member of the board of directors of the Greater Chicago Area March of Dimes and received a lifetime achievement award from the March of Dimes in 2018. She serves on the medical advisory board of several patient organizations.
Dr. Burton splits her time between Chicago and her second home in Longboat Key, FL. She is the proud mother of two adult sons and the grandmother of three incredibly attractive and precocious grandchildren.
Newborn Screening for MPS Disorders: What is It? The Role of Advocacy 3:00 pm, Dec.19, International Ballroom
Newborn screening for treatable disorders allows infants to avoid the diagnostic odyssey that accompanies many rare disorders and to receive treatment early when it is most effective. In early 2016, MPS I was added to the Recommended Uniform Screening Panel by the U.S. Secretary of Health and Human Services. As a result, many states are now screening all newborns for MPS I before they leave the hospital; other states are in the process of implementing screening. Dr. Burton will explain how newborn screening works and will review the benefits of early diagnosis of this disorder. Progress toward newborn screening for the other MPS disorders will be discussed. Advocacy by patients, parents and patient organizations has been critical in adding new disorders to the newborn screening panel. Dr. Burton will discuss what parents and patients can do to encourage progress in this important undertaking.
Genetic Testing and Family Planning 4:00 pm, Dec. 20, Salon VII
#mpsfamily2019 – 12 – Speakers
Grey Chapin Grey Chapin is a 16-year-old high school sophomore. Her sister, Blair, was diagnosed with MPS IIIB at age 6. Grey was only 4 at the time and helped her sister in every way she could for the next several years as Blair lost her ability to walk, talk and care for herself. Blair passed away in 2017. Through this experience, Grey was inspired to start a sibling support website.
The B.L.A.I.R. Connection 4:00 pm, Dec. 20, Palm III
Grey will be discussing her fundraising efforts to find a cure for Sanfilippo syndrome, and how she used fundraising as an outlet for her pain when her sister, Blair, was diagnosed with this disease. Grey’s family dynamic evolved immensely as Blair’s illness progressed. She’ll talk about how this can hurt and benefit a sibling in different ways. Grey will also discuss her sibling support website, The B.L.A.I.R. Connection, and how siblings can get involved to support each other and the MPS community.
Lorne Clarke Lorne Clarke is a professor of medical genetics at the University of British Columbia, and is a clinical and biochemical geneticist in the Provincial Medical Genetics Program where he served as medical director for 10 years. He has been in the field of lysosomal storage diseases for more than 25 years and has published more than 60 research papers on this topic. His group was one of the first to describe mutations underlying MPS I and was the first group to develop a mouse model of MPS I. Dr. Clarke’s research contributions include novel insights into the pathogenesis of the MPS diseases. He was the principle investigator of one of the largest centers involved in the phase III/IV trial of enzyme replacement therapy for MPS I. His group recently has produced mouse models of Gaucher disease and Sandhoff disease. He serves as a scientific advisor to many biotechnology corporations involved in the development of rare disease therapeutics, as well as rare disease philanthropic organizations and disease registries.
Overview of the Mucopolysaccharidoses with a Science Twist 1:45 pm, Dec. 19, International Ballroom
The mucopolysaccharidoses are progressive disorders that impact virtually every organ system of the body. Appreciating both the natural history of symptoms that individuals with MPS have and the underlying cellular and biochemical perturbations is essential to understanding the potential impact of treatments and stimulating the development of alternative therapies. Although the mucopolysaccharidoses are considered “storage disorders,” it is now clear from studies both in humans as well as animal models that the progressive symptoms experienced by patients are likely not directly linked to progressive storage. This talk will highlight the current knowledge and insights related to the key symptoms that are common in MPS and ML and link those clinical findings to what is likely happening at the cellular level. With this knowledge one can then develop strategies to ensure optimal outcome for individuals with these disorders.
#mpsfamily2019 – 13 – Speakers
R. Duane Clark II Duane Clark is a 30+ year professional focused on the commercialization of life-changing therapies in immunology and rare disease. He has held leadership positions in general management, sales, marketing, commercial operations, project management, and was a partner in a clinical research and consulting company. He has contributed to multiple successful product launches and commercial teams in the United States, Europe and Canada. Mr. Clarke currently is general manager of U.S. Rare Disease at Sanofi Genzyme. Mr. Clarke’s philosophy is inclusive leadership in addition to a positive culture drives success; and collaborative and diverse teams transition vision to reality. During his career he has committed himself to keeping the patient first, which is a primary motivator each day. One team, common goals, and a single mission to help rare disease patients is his professional mantra.
Sanofi Genzyme 3:10 pm, Dec. 20, International Ballroom
Julie Eisengart Julie Eisengart is a pediatric neuropsychologist and assistant professor at the University of Minnesota. She received her PhD in clinical psychology from Northwestern University in 2009 and completed her psychology internship and post-doctoral fellowship in pediatric neuropsychology at the University of Minnesota. Her fellowship was funded in part by the NIH to enable a concentration on lysosomal disorders. Dr. Eisengart’s research focuses on the natural histories and treatment outcomes of rare diseases involving the central nervous system, particularly lysosomal disorders. She examines longitudinal relationships between brain structure, biomarker abnormalities and brain function in rare diseases, and conducts neuropsychological evaluations in a broad spectrum of affected patients from infancy to adulthood. She has worked as a principal investigator, site principal investigator or co-investigator on a number of studies on MPS. Alongside her research, Dr. Eisengart has served as an advisor for the Minnesota Department of Health on implementation of newborn screening for MPS I and other rare disorders. She also is a member of the Scientific Advisory Board for the National MPS Society, the Center for Neurobehavioral Development at the University of Minnesota, the Lysosomal Disease Network, the International Neuropsychological Society and the American Psychological Association. Her research is published in journals such as Genetics in Medicine, JAMA Neurology, Neurology, Journal of Pediatrics, Molecular Genetics and Metabolism and Orphanet Journal of Rare Diseases.
Neurocognitive Manifestations and Considerations in MPS 3:30 pm, Dec. 19, International Ballroom
In some of the MPS disorders, accumulation of a type of cellular waste has been associated with effects on brain function. Collectively, these are referred to as neurocognitive complications, meaning a broad set of thinking, reasoning, communicating and self-management skills that are expected for age level. In some MPS subtypes, these complications can involve missed developmental milestones and a progressive loss of skills. In other subtypes, there may not be marked decline, but there can still be difficulties that have a significant impact on functioning and independence, such as deficits in attention, short-term memory, rapid problem solving, and the ability to hold information in mind without writing it down (i.e., “working memory”). Some brain manifestations that have received a much-needed increase in focus are neurobehavioral symptoms, which can be serious and life-limiting. This presentation will review some neurocognitive and neurobehavioral manifestations of MPS types, describe important considerations in measurement including for clinical trials, and outline clinical management and support strategies. #mpsfamily2019 – 14 – Speakers
Matthew Ellinwood Associate Professor N. Matthew Ellinwood, DVM, PhD, is a comparative medical genetics researcher at Iowa State University. He trained at Colorado State University (DVM 1997; PhD 2000 Physiology), after which he pursued residency and post-doctoral training in veterinary medical genetics and gene therapy at the University of Pennsylvania (1998-2003) and the Gene Therapy Laboratory in Nantes France (2003-2004). He has been at Iowa State University since 2004 where he works with a special focus on MPS I and MPS IIIB, using canine and murine models to better understand disease and to better treat patients.
Gene Therapy/Gene Editing Today and Our Future 2:15 pm, Dec. 19, International Ballroom
Among the various approaches to treating MPS, gene therapy has been a method of much attention, research and optimistic results for decades. Indeed, at some level, the first bone marrow transplant was in some regards a gene therapy in that it supplies, in the form of stem cells, a source of endogenous enzyme production from a foreign (donor’s) gene. Many of the underlying mechanisms of gene therapy have been well tested in animal model systems, however the positive results that have been achieved in animal models have yet to be translated into fully approved and validated human therapies. This presentation will focus on the basic elements and techniques of various gene therapies, including varying vectors and approaches. A number of exciting innovations involving gene editing that have been discovered in the last several years will be discussed. Current trials of gene therapy involving MPS and those diseases closely related will be detailed. MPS Research Pipeline and National MPS Society Research Program 4:10 pm, Dec. 19, International Ballroom
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Tony Frangie Tony Frangie is vice president and franchise head of Takeda Pharmaceutical’s U.S. Lysosomal Storage Disorders Franchise, which includes VPRIV for Gaucher disease and ELAPRASE for Hunter syndrome. Mr. Frangie joined the company in 2016 as chief of staff to Shire’s CEO, working on global initiatives across many areas of the business. He then moved into the U.S. Hematology Franchise leading payer and channel strategy. Previously, he worked at McKinsey & Company, where he supported Shire’s R&D organization and the integrations of Dyax (HAE) and Baxalta (Bleeding Disorders & Immunology). Prior to that, Mr. Frangie built his commercial experience through various roles at Hologic, OmniGuide, Genzyme and Akzo Nobel. Mr. Frangie holds an AB in biology with a concentration in cell and molecular biology/biochemistry from Colby College (with honors) and an MBA from Harvard Business School. He lives outside of Boston with his wife, Mindy, and three children, Grace, Olivia and Ryan. Takeda Pharmaceuticals Update 3:00 pm, Dec. 20, International Ballroom This presentation will introduce Takeda Pharmaceuticals, which acquired Shire and its work in Hunter syndrome in early 2019. Takeda is a patient-focused, R&D-driven global biopharmaceutical company committed to the pursuit of potentially life-changing treatments for patients. This session will provide an overview of Takeda’s value-driven approach and discuss ongoing pipeline initiatives.
Jodie Gillon Jodie Gillon serves as vice president of patient advocacy and clinical affairs for Abeona Therapeutics. In this role she is the main point of contact for advocacy groups, patients and families, and oversees medical communications and information, contributions, meetings and policies. Ms. Gillon began her career in advocacy, hospitals and government and transitioned to industry over two decades ago holding various roles across development, medical and corporate affairs. Prior to joining Abeona, she cumulatively spent more than a decade with Pfizer as global medical lead, patient engagement, for the rare diseases business unit, and director, medical communications, within the chief medical office. She served as a core member on all medical, commercial, launch, global and regional leadership teams ensuring the patient voice drove strategy and facilitated collaborations with patient groups. Prior to Pfizer, Ms. Gillon was head of patient advocacy and professional affairs with Achillion Pharmaceuticals where she led policy, alliances, patient engagement, contributions/grants, compassionate use, medical information, medical communications, field medical and external affairs. Previously she served as head of the chief medical office of AstraZeneca where she managed patient engagement, compassionate use, trial and payment transparency, meetings and events, an HCP engagement center, companywide policy, external contributions, alliances and crisis management. Ms. Gillon held additional roles as the global communications lead at Novartis, director of medical education for Oridion Medical, and as a health economist with the Israeli Center for Disease Control and Ministry of Health. She holds a master’s degree in public health with a dual degree in health economics and epidemiology from Hebrew University in Jerusalem, and a BSFS from Georgetown’s School of Foreign Service. She currently serves on several industrywide boards pertaining to patient advocacy, rare diseases, compassionate use, innovation and artificial intelligence. Abeona Therapeutics Update 3:40 pm, Dec. 20, International Ballroom This presentation will provide an update on Abeona’s three ongoing global phase I/II studies to assess the safety and potential efficacy of gene therapies for patients with MPS IIIA andIIIB. In addition, Abeona’s recently initiated study in MPS IIIA for patients with middle and advanced phases of the disease will be discussed. #mpsfamily2019 – 16 – Speakers
Jennifer Klein Jennifer Klein is an adult with Mucolipidosis III, Alpha Beta, (Pseudo-Hurler Polydystrophy). She has 15 years of experience in patient advocacy and a master’s degree in physiology from North Carolina State University. She currently works as a biomedical research scientist, accelerating rare disease drug discovery by utilizing machine learning techniques at Collaborations Pharmaceuticals, Inc. (CPI). Ms. Klein received her undergraduate degrees in human biology and psychology and her graduate degree in physiology from North Carolina State University. Following graduation, she completed a medical fellowship at Centro Hospitalar Universitário do Algarve in Faro, Portugal, completing rotations in internal medicine, infectious disease, otolaryngology and ophthalmology. She then entered the pharmaceutical industry, expanding the drug development pipeline for rare diseases and working on the preclinical development for several rare disease drug candidates at CPI. Ms. Klein holds positions on the International Advocate for Glycoprotein Storage Diseases board of directors and the University of North Carolina Children’s Hospital Family Advisory Board, where she advocates for patient-centered care. She cofounded and is a member of the National MPS Society’s Adult Resource Committee where she provides resources for the affected adult patient population to help them live fulfilling and independent lives. Ms. Klein cofounded the Mucolipidosis Collaborative Research Network, which encompasses academic researchers, industry partners and not-for-profit organizations from around the globe. She lives in Raleigh and works diligently to raise funds for research. She has several publications, including the Nature Materials publication, Exploiting Machine Learning for End-to-End Drug Discovery and Development.
Developing Individualized Therapies for an Unmet Need from a Patient Scientist 1:25 pm, Dec. 19, International Ballroom
Ms. Klein has a unique perspective in drug development, being both a rare disease patient and biomedical research scientist. She will present on the importance of patient involvement in the drug development process. In addition, she will discuss how patient advocacy groups can engage with industry throughout preclinical development to translate a preclinical asset into a successful therapy. Her work is driven by her own unmet therapy need while living with Mucolipidosis III alpha/beta. Finally, she will discuss how she has recently co-founded the global Mucolipidosis Research Collaborative Network.
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Sharyn Madison As a member of a family that has a history of Hunter’s syndrome for at least four generations, Sharyn has lived with MPS II as a niece, sister and mother. She speaks from an experienced understanding of MPS with its challenges and rewards. Sharyn’s brother, Wayne Eppehimer (MPS II), has been a part of the National MPS Society for many years, and her son, Jason Madison (MPS II), has spent a lifetime giving his life to research and development of treatments for MPS. Sharyn has a life-long passion for teaching and community service. As a professional educator with a dual certification in education and physical education, she is a workshop speaker for educational and spiritual events and has participated in international projects. Her second career led her to owning and managing a wellness center in central New York and providing services as an aesthetician and Reiki master. With experience in crystal healing, color therapy, chakra balancing, vibrational healing and essential oils, Sharyn is experienced in holistic care and complementary therapies. She is a visionary leader for Reiki share groups, Reiki retreats and Reiki classes, and is authorized by the National Certification Board for Therapeutic Massage and Bodywork to give continuing education credits to qualified licensed massage therapists. Most recently, Sharyn published a book called Spirit Speaks about connection with our spiritual resources.
Holistic Care for Your Family 4:00 pm, Dec. 20, Salon VIII MPS and ML diseases affect us holistically—body, mind and spirit. There is holistic care available, and no one deserves that care more than affected individuals and their families. Modalities of care will be discussed that address the totality of the wide range of issues these complex disorders bring into daily life. More than 60 alternative modalities of care, used as a complement to medical care, have been used effectively. These include massage therapy, yoga, Reiki, aromatherapy and meditation. There is evidence from science and first-hand experience that these treatments offer pain relief, stress relief, whole body support, balance, decrease in body inflammation and much more. This presentation will explain how holistic care is a gentle, effective, non-invasive approach for the entire family, with no side effects.
Steve Maricich Steve Maricich, MD, PhD, is the chief medical officer of Allievex, a clinical-stage biotechnology company focused on developing novel therapies for the treatment of rare pediatric neurodegenerative diseases. A pediatric neurologist and developmental neurobiology researcher, Dr. Maricich is a recovering academic who joined industry to develop treatments for childhood neurological diseases that afflicted his patients. Before joining Allievex, he spent three years as the clinical lead for the tralesinidase alfa program at BioMarin.
Intracerebroventricular Tralesinidase Alfa for the Treatment of Sanfilippo Syndrome Type B 3:30 pm, Dec. 20, International Ballroom Sanfilippo syndrome type B (MPS IIIB) is a lysosomal storage disorder that leads to accumulation of the sugar heparan sulfate in the brain and body. The disease manifests with developmental delay, difficulties with acquisition of speech and language, hearing difficulties, behavioral disorders, disrupted sleep, enlarged liver size and other effects on the body. Progression of the disease robs patients of the ability to control their muscles, causes relentless dementia and ultimately claims their lives, typically by their late teens or early 20s. Tralesinidase alfa is a novel enzyme replacement therapy administered directly into the cerebrospinal fluid that surrounds the brain. This presentation will discuss Allievex’s (formerly BioMarin’s) Sanfilippo B program, including a program overview, open studies and preliminary safety and efficacy results.
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Nathalie Marie Dr. Nathalie Marie was born and raised in Miami, FL. She completed her BA degree at Boston College in Massachusetts where she double majored in philosophy and pre-medical sciences. There, she graduated magna cum laude and was the recipient of the Dean’s Scholar Award. She attended medical school at the Miller School of Medicine in Miami, FL, and was the recipient of the Distinction in Psychiatry Award, selected by faculty as having both academic and clinical distinction within a graduating class. Dr. Marie completed her psychiatric residency in 2008 in Houston, TX, at Baylor College of Medicine, Meninger Department of Psychiatry. She received multiple distinctions during her residency training, including the Association of Women Psychiatrist Alexandra-Simmons Fellowship Award for distinction in women’s mental health and the Dr. Henry Page Durkee Laughlin Foundation Merit Award. After residency, Dr. Marie served the veteran population for six years at the Michael E. DeBakey VA Medical Center where she also held dual appointment with Baylor College of Medicine. There she worked as an outpatient psychiatrist within the trauma and recovery program specializing in post-traumatic stress and anxiety disorders, as well as other mood disorders. She is certified in cognitive processing therapy, and has training and experience in both psychodynamic and cognitive behavioral therapies. In addition to her clinical work, Dr. Marie provided training and supervision for Baylor College of Medicine medical students, physician assistant students and psychiatry residents, and gave multiple lectures on a variety of topics. In 2011, she was a Federal Executive Horizon Award Nominee in the category of leadership. Dr. Marie currently works as an outpatient psychiatrist for Legacy Community Health aiding the underserved. She is fluent in three languages, enjoys ballroom dancing, travel and spending time with her husband, Clayton, and 7-year-old son, Sebastien, who was diagnosed with MPS II four years ago.
Habits of Emotionally Resilient People 4:45 pm, Dec. 20, Salon VII
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Deborah Marsden Dr. Deborah Marsden is Global Medical Expert (GME) across the metabolic portfolio at Ultragenyx Pharmaceutical. She is responsible at the therapy area for providing highly informed scientific advice and support for the clinical development, economic valuation and commercialization of medicines. In her role as GME, Dr. Marsden engages with external medical leaders at a scientific level and in various clinical and scientific discussions focused on national and global health practices and policies. In addition, she is a part-time staff physician in the Metabolic Clinic and Lab Medicine at Boston Children’s Hospital and has a Harvard Medical School appointment.
Ultragenyx Update 3:20 pm, Dec. 20, International Ballroom
Hear updates on Ultragenyx Pharmaceutical’s patient advocacy and global clinical study initiatives, which are designed to both learn more about MPS VII, one of the rarest types of mucopolysaccharidoses estimated to occur in 200 people worldwide, and to inform how the company engages with and supports the MPS VII patient and family community. Results from survey and interview research conducted in Europe and the United States to better understand the experiences of patients with MPS VII and their family members, their pathway to diagnosis, and the burden of illness will be presented. In addition, the concept and status of the currently enrolling MPS VII Disease Monitoring Program will be discussed. This global, prospective, multicenter, longitudinal study aims to learn how MPS VII presents, how those symptoms change over time, and about the long-term effectiveness and safety of vestronidase alfa, an enzyme replacement therapy for MPS VII.
Joseph Muenzer Joseph Muenzer, MD, PhD, is professor of pediatrics and genetics in the Division of Genetics and Metabolism, Department of Pediatrics, at the University of North Carolina at Chapel Hill, where he has practiced since 1993. He is actively involved in the diagnosis, management and clinical treatment of patients with inborn errors of metabolism, especially MPS, and tandem mass spectrometry newborn screening. Dr. Muenzer received his medical degree and PhD in biochemistry from Case Western Reserve University in Cleveland, OH. He completed his residency in pediatrics at the University of Wisconsin Hospital in Madison, and subsequently completed a genetics/endocrine fellowship at the National Institute of Child Health and Human Development, National Institutes of Health, in Bethesda, MD. Dr. Muenzer is board certified in pediatrics and clinical biochemical/molecular genetics. His research has focused on the development of treatments for MPS. He has created a mouse model for MPS II, and was a principal investigator of clinical trials of recombinant enzyme replacement therapy (ERT) for MPS I and II. Dr. Muenzer’s recent clinical research is directed toward the development of treatment for central nervous system diseases in MPS. He currently is a principal investigator of the phase I/II and II/III clinical trials evaluating intrathecal ERT for the severe form of Hunter syndrome. Dr. Muenzer also is a principal investigator of a phase I/II gene editing trial for adults with Hunter syndrome and a phase I/II intravenous ERT clinical trial for Sanfilippo A syndrome.
Newly Diagnosed Family Dinner—Living and Coping with MPS and ML 4:30 pm, Dec. 19, Palm V
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Marie-Laure Névoret Dr. Marie-Laure Névoret is senior director, clinical development lead, at REGENXBIO where she oversees the clinical development of gene therapy programs for the central nervous system rare disease platform. Prior to joining REGENXBIO, Dr. Névoret was the director of Global Clinical Development at Helixmith (formerly VM BioPharma), guiding the clinical trials of plasmid DNA gene therapy products to address chronic neurovascular and neurodegenerative disorders. She has also held the role of medical director, North America, for Impeto Medical, leading clinical research and medical affairs for an innovative, non-invasive sudomotor function device in the early detection of small fiber impairment. After receiving her bachelor’s degree from Duke University, Dr. Névoret completed her MD and general surgery residency at Loyola University Chicago. She practiced general surgery in Massachusetts before turning her attention to clinical research. Dr. Névoret continues to work passionately in the development of gene therapies to address conditions profoundly affecting the neurological system.
REGENXBIO Update on MPS I and MPS II Gene Therapy Programs 2:50 pm, Dec. 20, International Ballroom
The neurological manifestations of MPS I and II are still inadequately addressed with current treatments. Gene therapy offers the potential to deliver functional copies of the gene encoding for the missing enzyme in MPS I and II with a one-time administration. If provided directly into the central nervous system, gene therapy may afford sustained ability to break down glucosaminoglycans accumulating in the brain, potentially curbing the neurological manifestations of MPS. REGENXBIO has two products aimed at treating neurological complications of MPS I and II that are currently in clinical development using its proprietary adeno-associated virus gene delivery platform (NAV® Technology Platform). The company’s approach to gene therapy and its MPS clinical program will be presented.
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Paul Orchard Dr. Paul Orchard is the medical director of the Inherited Metabolic & Storage Disease Transplantation Program, and is a professor in the Department of Pediatrics in the Division of Blood and Marrow Transplantation at the University of Minnesota. He is interested in the use of hematopoietic stem cell transplantation and other cell therapies, such a gene therapy, to improve outcomes. Dr. Orchard’s group also has been exploring methods to modify the transplant process to decrease the toxicity associated with transplantation, as well as translational and biomarker studies to better understand these disease processes and how they may be impacted.
The Role of Transplant/Gene Therapy in MPS Disorders 1:30 pm, Dec. 20, International Ballroom
Blood stem cell transplantation has been used for the treatment of lysosomal diseases since the 1980s. This presentation will explore the benefits and limitations of transplantation, and its current role in therapy. Ongoing modifications in the transplant process to enhance safety, and the role of newborn screening in achieving better outcomes will be discussed. In addition, gene therapy is becoming a reality, and the approaches and potential benefits will be examined.
Samantha Parker Samantha Parker, MBA, is chief patient access officer at Lysogene and member of the executive management team. Ms. Parker has contributed to rare disease research and public health since 2000. She has focused on expanding the expert disease community of healthcare professionals, patients, industry and regulators; building disease registries, natural history studies and novel endpoints; and developing strategies to improve quality of diagnosis and patient care. Ms. Parker contributed, for several years, to the area of independent professional education in rare diseases by spearheading the creation of a company foundation. She was a member of the European Group of Experts on Rare Diseases and the International Rare Diseases Research Consortium.
Lysogene 3:50 pm, Dec. 20, International Ballroom
Lysogene is a gene therapy company focused on the treatment of orphan diseases of the central nervous system (CNS). The company has built a unique capability to enable a safe and effective delivery of gene therapies to the CNS to treat lysosomal diseases and other genetic disorders of the CNS. Ms. Parker will be discussing an ongoing phase II/III clinical trial in MPS IIIA in partnership with Sarepta Therapeutics, Inc., and an upcoming phase I/II clinical trial in GM1 (gangliosidosis). Speakers
Roberto Pineda A native of Minneapolis, MN, Dr. Pineda completed his medical degree at the University of Minnesota Medical School, and was a recipient of the Howard Hughes NIH-HHMI Research Scholars Program at the Cloisters in Bethesda, MD, where he worked with retinoblastoma cell lines at the National Eye Institute. He went on to complete his residency in ophthalmology at the Massachusetts Eye and Ear Infirmary, Harvard Medical School, where he served as chief resident and director of trauma service for an additional year. As a Heed Fellow recipient, Dr. Pineda completed his cornea and refractive surgery fellowship at the Massachusetts Eye and Ear Infirmary. The former director of refractive surgery at the Massachusetts Eye and Ear Infirmary, and former division chief of ophthalmology at the Brigham and Women’s Hospital, Dr. Pineda has published more than 60 peer-reviewed papers and co-authored five books, including the award-winning Massachusetts Eye and Ear Infirmary Illustrated Manual of Ophthalmology, and the second edition of Essentials of Cataract Surgery. He has received the American Academy of Ophthalmology (AAO) Senior Achievement Award and has served on the AAO Practicing Ophthalmology Committee in Cataract, the AAO Ethics Committee and the Preferred Practice Patterns Adult Cataract. Dr. Pineda was appointed associate director of the Office of Global Surgery and Health at Massachusetts Eye and Ear Infirmary, working with university ophthalmology residency programs in Haiti and Uganda. He is an associate professor of ophthalmology at Harvard Medical School. He recently was named the Thomas Y. and Clara W. Butler Chair in Ophthalmology. He has regularly worked with MPS patients and corneal transplantation for the past decade, and published his first paper on MPS patients and their eye findings after bone marrow transplantation more than 30 years ago. He is co-director of the Harvard Medical School Intensive Cataract Surgical Training Course, now in its 15th year. He regularly participates in the Flying Eye Hospital Programs run by ORBIS International since 1998. He has been involved in numerous other international programs such as the LifeLine Express in China, as well as his research with the International Boston Keratoprosthesis program in Ethiopia and Sudan. He participates in SightLife’s Surgical Skill Transfer programs for corneal transplantation, most recently at an eye bank meeting in Mexico City. Finally, he has participated in a number of clinical trials and currently is working on development of a new optical imaging device for evaluation of the cornea and lens.
Corneal Transplantation in MPS 2:00 pm, Dec. 20, International Ballroom
Corneal transplantation is the most common transplanted organ surgery in the United States. Approximately 50,000 cases are performed each year and in general corneal transplantation has a very good outcome. There are several types of corneal transplantation, some of which are newer and carry a lower risk of complications. Special consideration must be taken for the MPS patient. This presentation will review the two types of corneal transplantation that are relevant to MPS patients: penetrating keratoplasty (PK or PKP) and deep anterior lamellar keratoplasty (DALK). Current literature will be discussed regarding these procedures and personal experience treating MPS patients will be reviewed. Following the talk, a panel of MPS patients who have received corneal transplantation will be present to answer questions.
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Lynda Polgreen Dr. Lynda Polgreen is a pediatric endocrinologist who received her degree in medicine from the Mount Sinai School of Medicine. She then completed her pediatric residency and postdoctoral fellowship in pediatric endocrinology at the University of Minnesota. She currently is an investigator at The Lundquist Institute at Harbor-UCLA Medical Center, and an assistant professor of pediatrics at the David Geffen School of Medicine–UCLA. She is the director of the Rare Disease Research Group at The Lundquist Institute and a member of the National MPS Society Scientific Advisory Board, the Lysosomal Disease Network Council of Research Experts, and industry work groups. Dr. Polgreen’s research primarily focuses on ways to improve the treatment and understanding of skeletal and joint pathology in MPS, and the role of inflammation in MPS. She leads a longitudinal study of skeletal disease in MPS I, II and VI that has helped define the substantial orthopedic disease remaining despite current therapies, established historical control datasets for use in clinical trials, and developed a large biorepository of blood, DNA and urine samples from patients with MPS that is now being expanded to include bone, cartilage and other related tissues. She currently is conducting clinical trials evaluating the role of inflammation in MPS disease pathology and the effects of anti-inflammatory therapies, and working on validation of biomarkers of bone and joint disease severity in MPS disorders.
Optimizing Bone Health in MPS 12:30 pm, Dec. 20, International Ballroom
Bone disease is a major problem for many individuals with MPS. Spine, hip, knee, growth and joint problems can lead to significant disability and even immobility. This presentation will review hormones the body makes that are critical for keeping bones healthy and strong, such as growth, thyroid and pubertal hormones, as well as vitamin D. Attendees will learn when to be concerned about deficiencies in these hormones, and see data suggesting an increased risk for osteoporosis in some individuals with MPS. The second part of the talk will review current research aimed at fixing bone and joint disease in MPS. Anti-inflammatory therapies, post-transplant enzyme replacement therapy, and joint-directed gene therapy will be discussed, concluding with a brief overview of non-therapeutic studies being done that help us understand MPS bone disease.
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Seth Rotberg Seth is a patient advocate and motivational speaker who is passionate about bringing his personal experience to better support the health community. His passion is driven by his mother’s 17-year battle with the rare, genetic disease known as Huntington’s Disease. At age 20, Seth also tested positive for the disease and is a gene carrier. He has more than 10 years of fundraising, advocacy and volunteer experience. Seth realized from his own personal experience that there were unmet needs of young adults impacted by a rare or chronic condition. In 2019, he co-founded the nonprofit Our Odyssey to help bridge this gap and to provide social and emotional support to these young adults in hope of improving their quality of life.
SPIRIT Conference Welcome 9:00 am, Dec. 21, Salon I and II
Seth will kick off the SPIRIT conference by sharing his own patient journey as someone growing up in a family impacted by a rare condition, Huntington’s Disease. In this opening talk, Seth will address the challenges of being a part of a rare disease family, going through genetic testing, and how he was able to become more involved with fundraising, advocacy and volunteer efforts within the rare disease community. Navigating Work and Internships, Transitioning from College to Career 1:45 pm, Dec. 21, Salon I and II
The needs of young adults are often overlooked by the health community. We tend to focus only on the medical care of a child transitioning into adulthood, however there is an opportunity to support young adults with a wholistic approach. This includes addressing some of the burdens this demographic carries, such as coping with their disease, planning their future (family and career) and transitioning into college, among other challenges faced in society. The purpose of this session is to discuss some of these issues faced by young adults, tips and tools to overcome them, and how to build a network of support (both personally and professionally). We will dive deeper into career planning and how to build a brand as the ideal candidate for the next internship or job in your life.
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Steve Smith Steve Smith has been an MPS parent since 1990 and has followed developments in MPS clinical trials since then. He began advocating for rare disease families in 2000 by speaking directly to the FDA and members of congress, asking them to modernize the rare disease process to accelerate development of rare disease treatments. Steve has continued this advocacy and has seen the growing collaboration between biotech drug developers, physicians, hospitals, regulatory officials and members of congress. He helped with the startup of the EveryLife Foundation for Rare Diseases, a non-profit that gives patients a voice on Capitol Hill. Professionally Steve works for the WIRB-Copernicus Group, a company that provides clinical trial services focused on the ethical treatment of people who participate in clinical trials, and specializes in services that make trials safe and efficient.
Participation in Clinical Trials: What’s It All About? 4:00 pm and 4:45 pm, Dec. 20, Salon VI
Discover what exactly a clinical trial is and what it means if you participate as a patient. Learn what will be expected of you, and what you should expect. What will you have to do and what will you get out of it? In an era of “patient-centric” clinical trials, find out how drug developers are trying to reduce the burden of clinical trials on participants. Learn what a placebo is, if a clinical trial will cost you financially and what role your insurance plays. See what patients working together as advocates have done to make clinical trials more patient friendly, and more likely to succeed in bringing us new medicines. This presentation will address all of these issues, as well as inform you where you can check to see what clinical trials are currently happening.
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Klane K. White Klane K. White, MD, MSc, is a pediatric orthopaedic surgeon and director of the Skeletal Health and Dysplasia Program at Seattle Children’s Hospital. He is professor of orthopaedic surgery at the University of Washington and a diplomat of the American Board of Orthopaedic Surgery. A graduate of the University of Southern California, Dr. White earned his bachelor’s and master’s degrees in biology and biological oceanography, respectively. He received his doctor of medicine from the George Washington University in Washington, DC. Dr. White completed his surgical internship and orthopaedic surgery residency at the University of California San Diego, as well as a two-year NIH-sponsored fellowship in orthopaedic research. He received advanced fellowship training in pediatric orthopaedics and scoliosis at Texas Scottish Rite Hospital for Children in Dallas, TX. Dr. White is an internationally recognized expert and advocate in the care of MPS and skeletal dysplasia. He serves on the medical advisory board of Little People of America, and is an executive founding member of the Skeletal Dysplasia Management Consortium. Following three terms on the National MPS Society’s board of directors, he continues to chair the Technical Grant Review Committee, and serves on the Scientific Advisory Board. Dr. White’s clinical and research interests also include the diagnosis and management of early onset scoliosis (including VEPTR and magnetic growing rods), metabolic bone disease, and complex spine and hip deformity. Dr. White has authored more than 60 peer-reviewed publications, review articles and book chapters.
Orthopedic Manifestations in Patients with MPS 12:30 pm, Dec. 20, International Ballroom Skeletal abnormalities are an early and prominent feature of MPS. Bone and joint disease in MPS affects the spine, hips, and upper and lower extremities. Medical therapies including enzyme replacement therapy and hematopoietic stem cell transplant have been, and continue to be, developed for the treatment of MPS, allowing patients to live longer, more functional lives. These therapies, however, have provided only modest benefit for skeletal deformities, necessitating monitoring and surgical intervention by an orthopedic surgeon. This presentation will provide understanding of the basic science, clinical presentation, radiographic findings and surgical treatment of musculoskeletal disease associated with MPS.
#mpsfamily2019 – 27 – Speakers
Chet Whitley Chester Whitley, PhD, MD, is a tenured professor in the department of pediatrics, department of experimental and clinical pharmacology, and director of the Gene Therapy Center, and advanced therapies program at the University of Minnesota. In 1983 he performed the first U.S. trials of bone marrow transplantation for Hurler syndrome and other lysosomal storage diseases. During these early studies, Dr. Whitley coined the term “metabolic cross-correction” and, in conversations with the FDA, coined the term “ultra-orphan disease.” His CLIA-certified gene therapy and diagnostics lab is the first in North America to offer complete gene exon sequencing of a gene as a clinical diagnostic test. In the late 1990s, Dr. Whitley conducted the first clinical trial of gene therapy for an MPS condition, Hunter syndrome. He invented the DMB dye-binding test for measuring urine glycosaminoglycans (GAGs), the most common method for quantifying GAGs in diagnostic laboratories globally. Other firsts include the discovery of “pseudo-deficiency” alleles for MPS I; showing that combining enzyme replacement therapy after bone marrow transplantation may enhance metabolic correction; demonstrating that small amounts of intravenous laronidase enzyme cross the blood-brain barrier, reducing the pathology in the brain and improving the learning of mice with Hurler syndrome; and intravenous gene therapy prevents brain disease in mice with Hurler syndrome. He is the founding course director of the annual We’re Organizing Research on Lysosomal Diseases research meeting. Recently Dr. Whitley and his colleagues evaluated the zinc- finger nuclease technology for Sangamo Therapeutics. This led to the first union clinical trial of the in-vivo gene editing form of gene therapy for which the first human subject was treated in phase I clinical trials for MPS I and II.
Navigating Complexities of Clinical Trials 2:30 pm, Dec. 20, International Ballroom With more than 35 years experience designing and conducting clinical trials, Dr. Whitley will highlight key features to watch when participating in new experimental treatment or observational clinical research programs. He will discuss if clinical trials offer safe passage toward better health, or if consenting to research is a potential treacherous voyage in uncharted waters. A list of treatment trials currently enrolling in 2019-2020 will be discussed, as well as clinical trials on the horizon. Which are relevant to people with mucopolysaccharidosis conditions, and what are the requirements? The NIH-funded Lysosomal Disease Network (LDN) aims to stimulate innovation and new treatments, chart new routes, get more people on board, and inspire better long-term options. Dr. Whitley will examine how the LDN impacts clinical trial readiness, newborn screening, long-term outcomes and global reach.
#mpsfamily2019 – 28 – Speakers
Tom Wier Tom has been married for 32 years to Blanca Wier and is a proud father of four sons, including Frankie (MPS II) who passed away in 2014. He is a retired dual service (Army/ Navy) veteran whose service includes working in a military intelligence unit as a combat engineer with top security clearance. Tom has also worked as a civilian in the transportation industry for 25 years, with 20 years as a supervisor at UPS as a logistics expert and managing staff. After receiving an honorable discharge from the U.S. Army in 2009, he is now employed as a SR for the Social Security Administration in Woodstock, IL, serving the community at large.
Navigating Medicaid and SSI 4:45 pm, Dec. 20, Palm III Navigating through Medicaid and Supplemental Security Income can be challenging for many MPS adults, parents and legal caregivers. Not knowing where to start or what benefits one may qualify for at times can seem very daunting and stressful. This discussion will address basic steps to start the process as well as the possible benefits that are available. In addition, discover the various programs offered to empower those individuals as they embark on this journey.
Mojan Zehtabchi Doctor Zehtabchi received her doctorate degree from the Canadian College of Naturopathic Medicine in 2013, where she received many awards, including the Natural Standard Research Collaboration Academic Achievement Award during the four-year program. Dr. Zehtabchi currently runs a family focused practice with a special interest in pain and hormones. She is focused on providing her patients with empowered healthcare that allows them to understand their health, so they can change it. Dr. Zehtabchi began volunteering with the Canadian MPS Society five years ago when one of her patient’s children was affected by MPS. She has been an active board member ever since, and also serves on the research committee.
CBD Oil and Its Benefits 4:00 and 4:45 pm, Dec. 20, Salon V 2:30 pm, Dec. 21, Salon I and II
This presentation will highlight different methods of pain management for MPS, followed by an overview of the nutritional aspect of pain management. Participants will also learn about different types of CBD, and the differences between CBD and THC and their side effects and benefits. Plant-based and Anti-inflammatory Diets 3:15 pm, Dec. 21, Salon I and II
Learn about the planetary health diet and its pros and cons. Compare the American food guide with the Canadian food guide, and discover why the new Canadian food guide is currently the best guideline in the world based on the newest nutritional research. Finally, learn about the anti-inflammatory diet and its health benefits.
#mpsfamily2019 – 29 – Attendees
MPS I NAME(S) EMAIL ADDRESS RELATIONSHIP STATE Helen Allison [email protected] Grandmother CA Eileen Basquill [email protected] Parent FL Daniyar and Ayaru Bauyrzhanova and Aliya Zholayeva [email protected] Parent Kazakhstan Nicole, Todd and Wyayy Blancheri [email protected] Parent FL Danica Boni Self MO Jenna Caswell [email protected] Sibling NH Keith, Heidi and Sam Caswell [email protected] Parent NH Elizabeth, Isabella, Levi, Jeremiah and Charlotte Clendenny [email protected] Parent FL Stephanie, Shawn and Ethan Cozine [email protected] Parent DE Tamara and Jason Cullere [email protected] Parent NJ Ryan Dant [email protected] Self KY Sheila DeVolder-Hicks and Luke DeVolder [email protected] Parent MI Kelli Dunn [email protected] Parent MO Candace, Benjamin, Clara and Owen Eastman [email protected] Parent MN Judy Fowler Byrne and Sarah Byrne [email protected] Parent Canada Jenifer and Jessica Gentle and Hans Hamberger [email protected] Parent Canada Kim and John Outten and Cassidy and Hannah Gosey [email protected] Parent VA Kirsten and Nicklas Harkins [email protected] Parent Canada Robert and Jessica Hess [email protected] Parent IL Tela Holbrook (Clancy) [email protected] Self NY Steve, Amy, Maddie and Laynie Holland [email protected] Parent TX Scott, Lynn, Christopher and Michelle Hopkins [email protected] Parent CA Chris and Helena Johnson [email protected] Parent TX William and Jeanne Johnston [email protected] Aunt and Uncle NJ Erin (Adele) Kary [email protected] Self NC Star and Ocean Kelly [email protected] Parent AL Katherine and Jerry Klemm [email protected] Parent FL Jenny, James, Amber and Amy Malavich [email protected] Parent MA Lori Manering [email protected] Aunt CA Kristin, Ron and Elliot Mattheson [email protected] Parent NH Amanda McCauley and Adisyn Nagele [email protected] Parent WA Jim, Kim and Loren McClelland [email protected] Parent LA Eric, Amber, Liam, Colin and Maura Mongan [email protected] Parent OR Trisha and John Prestigiacomo and Sydnee [email protected] Parent TX and Andrew Jensen Sharon and Savannah Prince [email protected] Parent GA Tracy, Tom, Magnolia, Laney and Kaya Rose [email protected] Parent NC Kevin, Kathleen and Micael Sheridan [email protected] Parent MN Julie Sykes [email protected] Self NE Michelle Teng [email protected] Self UT Erica Thiel [email protected] Self WI Marylyn Van der Moer [email protected] Grandparent CA Alec VandenBroeck [email protected] Nephew UT Sarah, Jim, Gracie and Hank White [email protected] Parent FL Kim, Allison and Lauren Williams [email protected] Parent OH
#mpsfamily2019 continued – 30 – Attendees
MPS II NAME(S) EMAIL ADDRESS RELATIONSHIP STATE Tressia Arnold and Cameron Watkins [email protected] Parent GA Josiah Baker [email protected] Self TN Davis Barkley [email protected] Self KY Promise, Robert, Eli and Jax Baxter [email protected] Parent SC Michael and Kimberly Black [email protected] Parent FL Samamtha Crawford and Gerard, Grace, [email protected] Parent TX Eleanor and Alexander Martinez Christopher DiTommaso [email protected] Self MI Nicholas DiTommaso [email protected] Self MI Ree Edwards [email protected] Grandparent GA Mike and Theresa Elgin [email protected] Parent IA Nathalie Marie and Sebastien English [email protected] Parent TX Wayne and Joan Eppehimer [email protected] Self NY Julie Florek [email protected] Friend PA Stephen Gagola III [email protected] Self MD Stephen Gagola Jr. [email protected] Parent OH Jennifer, Richard, Kaitlin and Raymond Gallo [email protected] Parent NY Jane Hancock [email protected] Grandparent TN Addie Hanebury [email protected] Grandparent CA Jackie Epps-Hardy and Mykonos and Xavier Hardy [email protected] Parent NJ Anne Marie Hoffman [email protected] Aunt GA Andrew, Katey, Madeline and Peter Hoffman [email protected] Parent CA Melissa, Brock and Case Hogan [email protected] Parent TN Zhanzhi Hu [email protected] Parent CA Marcie Humphrey [email protected] Spouse AZ Avram, Monica, Logan and Kalel Joseph [email protected] Parent FL Brian and Kris Klenke [email protected] Parent IL Chelsey Klenke [email protected] Sibling MO Brian Madeux [email protected] Self AZ Jason Madison [email protected] Self PA Sharyn Madison [email protected] Parent NY Marielle and Emma Marinoff [email protected] Parent NJ Kailey Buckholz and William, Mila and Hendrix Mascara [email protected] Parent OH Amanda, Dominic, Katarina, Caleb, Sophia, [email protected] Parent MI Philomena and Joshua Michalik Ray, Amy and Haley Miller [email protected] Parent PA Sandra Miller [email protected] Aunt TX Sheila Morley [email protected] Grandparent MN Chad, Cassandra, Lexi, Logan and Payton Morley [email protected] Parent MN Jonathan, Allison, Mae, Avery and Finn Muedder [email protected] Parent NC Aywon, Krystal, Noah and Penelope Nguyen [email protected] Parent CA David and Linda Perry [email protected] Grandparent NM Danielle Pleffner and Michael Stetson [email protected] Parent FL Cristina Purcell and Jonel and Anthony Bruno [email protected] Parent FL Seth, Jesselyn, Sarai, Levi and Urijah Radke [email protected] Parent IL Carolyn Keeney Rivera and Danny Hinton [email protected] Parent MI Stacy Robert [email protected] Aunt TX Tyler, Josie, Teagun, Tylee and Tynlee Robinson [email protected] Parent WY Sonia Rosado [email protected] Grandparent FL Alberto, Toni Ann, A.J. and Aiden Sanchez [email protected] Parent NJ
#mpsfamily2019 continued – 31 – Attendees
NAME(S) EMAIL ADDRESS RELATIONSHIP STATE Kim Stephens [email protected] Parent TN Jerry, Lisa, Jaden and Jack Todd [email protected] Parent NM Cody Underwood [email protected] Self CA Kyle Underwood [email protected] Self CA Ashly, Chris, Connor and Hailey Wiebelt [email protected] Parent TX John, Kristin, Abriana and John Wilber Jr. [email protected] Parent NY Noah Woods [email protected] Self NC Farhan Yahya [email protected] Parent Pakistan MPS III
Brandi and Madison Abbey [email protected] Parent OH Alicia, John and Ciara Bennett [email protected] Parent CA Hilary, Ross and Colin Berning [email protected] Parent WI Lisa, Josh, Caleb and Lucas Bittner [email protected] Parent MN Annette Braidwood Grandmother Australia Sydney Brooks Caregiver NC Kathleen Buckley, Keith Leece and Matthew Rosato [email protected] Parent NY Valerie Byers [email protected] Parent TX Laura and Tom Catanzarite [email protected] Parent OH Susan and Grey Chapin [email protected] Parent FL Hannah Clark, Allan Millar and Jackson Gibson [email protected] Parent ME Kayla and Waylon DelBoverlando and Jacob Lucas [email protected] Parent PA Peter DelBoverlando [email protected] Parent PA Michael Dobbyn and Jenna Ribiero [email protected] Parent PA Christi, Jason, Nathan and Anna Evans [email protected] Parent GA Tyler Farrow Caregiver NY Wendy, John, Abigail and Kate Ferguson [email protected] Parent NC Jimmy and Linda Fox Friend NY Bethany Gamache [email protected] Self OH Angela, Luis and Anyssa Guajardo [email protected] Parent TX Annie, Austin, Delaney, Fletcher and Hadley Henry [email protected] Parent TN Betty and Chris Henry Grandparents TN Michelle and Paige Hill [email protected] Parent NV Bethany James [email protected] Sibling NC Kathy and Nathan James [email protected] Parent NC Sean, Becky and Wes Jordan [email protected] Parent CA Susan and Larry Kirch [email protected] Parent AZ Tenille, Timothy, Jobe and Tate Koistinen [email protected] Parent Australia Kyle, Marcie and Carter Korth [email protected] Parent WI Dawn and Jonas Laorenza [email protected] Parent RI Bonnie, Shaun, Connor and Aelish Mackey [email protected] Parent FL Jeremy Mask [email protected] Sibling PA Erica, Kirk, Reagan and Garrett McKenzie [email protected] Parent GA Mckenzie Meyer Caregiver WI William, Christine, Jacob, Ella and Matthew Moon [email protected] Parent NY Kathy, Josh, Miriam and Jack Nay [email protected] Parent PA Cheryl and Austin Noll IV [email protected] Parent MI Danielle and Ella O’Connor [email protected] Parent NY Glenn O’Neill [email protected] Parent SC Christi, Jason, Levi and Logan Ormeroid [email protected] Parent WI Crystal Parsons Friend PA Chase Rigsby Friend WI #mpsfamily2019 – 32 – continued Attendees
NAME(S) EMAIL ADDRESS RELATIONSHIP STATE Savannah Serrao Caregiver NC Dana Stapley Sibling NC Rebeca Stoffer [email protected] Stepmother PA Debra, Richard, Jonathan and Jason Vanderpool [email protected] Parent NY Debbie Williams [email protected] Grandmother TN MPS IV Marc Alu Friend OH Mercedes Alvarez [email protected] Sibling TX Dee Armsworth Grandparent FL Jeff and Genevieve Armsworth [email protected] Parent FL Lana, Troy and A.J. Becker [email protected] Parent MT Ginger and Aaron Beverly [email protected] Parent MD Austin, Stephanie, Annabelle, Madeline and [email protected] Parent VA Charlotte Bozarth Sharon Gray [email protected] Parent FL Tracy Greenberg [email protected] Self OH Mary Ann Kruse Great Aunt CO Susan and Cherry Lee Aunt WV Mary Jane and Nicholas Lee [email protected] Parent IL Jason, Jonah and Hailee Makuch and Tiffany Fujioka [email protected] Parent WA James Sykes [email protected] Son NE Julie Sykes [email protected] Self NE Christine Tippett [email protected] Parent CO Sheri Wise [email protected] Self OK Fann Zambrano [email protected] Self TX MPS VI
Josefina and Mariel Abreu [email protected] Parent NY Kaitlyn Bean, Noah Grimes and Abel Spivey [email protected] Self VA Maria Isabel Bueso [email protected] Self CA Jacquelin and Patricia Espinal [email protected] Parent CA Marcia and Alena Galan [email protected] Parent NY Kimberly and Ethan Heiling, Lilah and Molly Mueller, [email protected] Parent WI Maddie and Anthony Stahl Rachel Horton Grandmother VA Priscilla and Daniel Huff [email protected] Parent VA ML
Shelley Kerfoot [email protected] Parent IN Susan Kester and Lawrance Tice [email protected] Parent GA Jennifer Klein [email protected] Self NC Terri Klein and Mike Schleter [email protected] Parent NC Sue and Jason Weng [email protected] Parent MD Cameron Wolfe Sibling IN Carter Worthen IN
continued
#mpsfamily2019 – 33 – Attendees
PROFESSIONALS NAME(S) EMAIL ADDRESS RELATIONSHIP STATE Kim Angel [email protected] Professional Canada Jamie Arvizu [email protected] Professional FL Ron Assari [email protected] Professional CA Joe Biedenkapp [email protected] Professional MA Kelsie Biehn [email protected] Professional FL Kendra Bjorker [email protected] Professional MN Elizabeth Braunlin [email protected] Professional MN Barbara Burton [email protected] Professional IL Michael Butler [email protected] Professional CA Daniel Carlson [email protected] Professional MA Tobin Chettiath [email protected] Professional CA Peter Chin [email protected] Professional CA Duane Clark [email protected] Professional MA Lorne Clarke [email protected] Professional Canada Kristin Clinard [email protected] Professional NC Ed Coles [email protected] Professional MD Carrie Condon [email protected] Professional MA Krisen Cowley [email protected] Professional MD Stacey Curtiss [email protected] Professional MD Caroline Dabney [email protected] Professional MA Niki Dangirwa-Vundla [email protected] Professional MA Pamlah DePew [email protected] Professional AR Stephanie Dolce [email protected] Professional MO Amy Downen [email protected] Professional NC Nicole Effenberger [email protected] Professional CA Takayo Egawa [email protected] Professional Japan Julie Eisengart [email protected] Professional MN Matthew Ellinwood [email protected] Professional IA Vivian Fernandez [email protected] Professional MD Emily Fields [email protected] Professional CA Anthony Frangie [email protected] Professional MA Jill Frauenheim [email protected] Professional IL Jodie Gillon [email protected] Professional NY Larizza Guerrero [email protected] Professional CA Meaghan Hallisey [email protected] Professional MA Dejaye Hand [email protected] Professional CA Chris Harmon [email protected] Professional MA Carole Ho [email protected] Professional CA Debra Jenings [email protected] Professional MA Shawn Jones [email protected] Professional CA Andrew Krikorian [email protected] Professional MA Leslie Kurland [email protected] Professional CA Steve Maricich [email protected] Professional MA Deborah Mardsen [email protected] Professional MA Ross Martin [email protected] Professional MA Elizabeth McNeil [email protected] Professional MA Robin Mergen [email protected] Professional MN Christeen Moburg [email protected] Professional IN Joseph Muenzer [email protected] Professional NC Marie-Laure Nevoret [email protected] Professional MA
#mpsfamily2019 continued – 34 – Attendees
NAME(S) EMAIL ADDRESS RELATIONSHIP STATE Katsuya Nishino [email protected] Professional CA Yinell Nunez [email protected] Professional FL Paul Orchard [email protected] Professional MN Bella Pangaribuan [email protected] Professional MA Samantha Parker [email protected] Professional France Nancy Pelkey [email protected] Professional CA Dawn Phillips [email protected] Professional NC Roberto Pineda [email protected] Professional MA Lynda Polgreen [email protected] Professional CA Vinay Ramabhadran [email protected] Professional MA Shannon Resetich [email protected] Professional MA Nicole Reynolds [email protected] Professional MA Elizabeth Rice [email protected] Professional NC Sarah Richardson [email protected] Professional NC Michelle Robinson [email protected] Professional NC Andrew Rolla [email protected] Professional MA Kris Rothleutner [email protected] Professional MA Sarah Ryan [email protected] Professional MA Ashley Schneider [email protected] Professional MN Esther Shamir [email protected] Professional MA Mike Shellman [email protected] Professional MA Steve Smith [email protected] Professional IL Emily Stolz [email protected] Professional AZ Maria Torres [email protected] Professional CA Lindsay Torrice [email protected] Professional NC Matthew Troyer [email protected] Professional CA Ashley Volz [email protected] Professional CA Kristin Voorhees [email protected] Professional CA Warren Wasiewski [email protected] Professional PA Cara Weismann [email protected] Professional PA Klane White [email protected] Professional WA Chester Whitley [email protected] Professional MN Tom Wier [email protected] Professional IL Allory Williams [email protected] Professional MA Edith Windsor [email protected] Professional MA Ekaterina Wright [email protected] Professional MA Chrisine Yu [email protected] Professional NJ Mojan Zehtabchi [email protected] Professional Canada Chen Zhu [email protected] Professional NC
#mpsfamily2019 – 35 – Thank You to Our Sponsors
PLATINUM SPONSORS
#mpsfamily2019 – 36 – Thank You to Our Sponsors
GOLD SPONSORS
SILVER SPONSOR
BRONZE SPONSORS
EXHIBITORS
Abeona Therapeutics Feel Good, Inc. Seelos Therapeutics Backpack Health Lysogene Takeda Pharmaceuticals Children’s Medical Services Remembrance Committee The B.L.A.I.R. Connection (Hotel arrival family gift packages) Operated by Wellcare Sanofi Genzyme Ultragenyx Denali Therapeutics Sarepta Therapeutics
#mpsfamily2019 – 37 – Notes
#mpsfamily2019 – 38 – Notes
#mpsfamily2019 – 39 – Notes
#mpsfamily2019 – 40 – MPS Jingle Bell 5K Run and One-Mile Memorial Walk
The MPS Jingle Bell 5K Run will be held December 20 at 8:15 am at Falcon’s Fire Golf Club. The event will feature a special one-mile memorial walk, chip-timed 5K run and awards for several categories. Lunch will be served following the run/walk. Buses will be available to and from the venue from 6:45 am–11:15 am. Race packet pickup is available from 2:30–6:30 pm at the exhibitor area near the main conference ballroom as well as on race day.
SCHEDULE NATIONAL SPONSORS 7:15 am Registration opens BioMarin, Sangamo Therapeutics, Takeda Pharmaceuticals 8:15 am 5K chip-timed run 8:25 am One-mile memorial walk CORPORATE SPONSORS 9:30 am Picnic lunch Ultragenyx Pharmaceutical 10:00 am Race and Courage Awards CONTACT REGISTER, BUILD A TEAM AND Contact Race Director Brian Buechler at RAISE FUNDS ONLINE [email protected] with questions. Register online at bit.ly/mpsjinglebell
$20 Early bird individual 5K run registration $10 Early bird one-mile memorial walk registration $60 Early bird family of four 5K run registration
$25 Day of event 5K individual registration $15 Day of event one-mile memorial walk registration $80 Day of event family of four 5K registration
#mpsfamily2019 – 41 – National MPS Society 2020 Maritime Gala
NATIONAL MPS SOCIETY Maritime Gala May 16, 2020 Corinthian Yacht Club Tiburon, CA
National MPS Society 2020 Family Conference
The 34th Annual National MPS Society Family Conference will be held July 16–18, 2020, at the Sheraton Music City Hotel in Nashville, TN.
Join us in Nashville for memorable accommodations, heartfelt greetings and unmatched services in the birthplace of country music. The Sheraton Music City Hotel’s comfortable guestrooms are recognized as the largest guestrooms in Nashville and offer a private balcony or patio for enjoyment. The Sheraton includes exceptional service and is located close to the airport, popular shopping areas, restaurants and a variety of attractions.