View and Download the 2020 Program

OCT 9th 2020 ®

1 2 Alone we are rare. Together we are strong.® NORD was founded over 37 years ago by a group of parents advocating for their children struggling with rare diseases. We fight to improve the lives of over 25 million Americans impacted by rare diseases.

NORD advocates for policy Our research programs Raising awareness of issues changes to improve the lives underscore NORD’s commitment facing rare disease patients of Americans impacted by rare to the identification, treatment and families and providing diseases at the federal and and cure of rare diseases. resources for the community state levels. are at the heart of our mission.

Visit rarediseases.org to learn more about NORD’s information and resources for rare patients, caregivers, clinicians and researchers.

©2020 NORD. All rights reserved. NORD, its logo, and tagline are registered trademarks of the National Organization for Rare Disorders. NORD is a registered 501(c)(3) charity. NORD does not recommend or endorse any particular medical treatment but encourages patients to seek the advice of their clinicians. Donations to NORD for this and other programs may be made by contacting NORD at rarediseases.org. NRD-2003 WELCOMES YOU TO THE 2020 RARE IMPACT AWARDS OCT 9TH, 2020

5 6 TOGETHER WE ARE STRONG. PROGRAM FOR THE EVENING

WELCOME MUSICAL GUEST John Whyte, MD, MPH, The cast of “Hemophilia: Chief Medical Officer, WebMD The Zoomsical!”

OPENING REMARKS PRESENTATION OF AWARDS Peter L. Saltonstall, President and CEO, NORD

PRESENTATION OF AWARDS

7 DEAR FRIENDS

hank you for joining us for the 2020 Rare Impact Awards, which is being presented for the first time ever as a streamed event. Celebrating those making a difference in the lives of millions of Americans affected by rare disease is more important than ever for us to do together, albeit virtually, right now. At the National Organization for Rare Disorders and as a community, the new normal in 2020 has presented many challenges for us to meet, but we’ve been busier than ever working to move the needle on what matters most to rare disease patients and caregivers. We now have over 50 volunteer ambassadors and community engagement Tliaisons across 40 states as part of our Rare Action Network (RAN), and more than 5,000 people have made their voices heard with their state or federal legislators on issues impacting rare patients and families. We’ve been working to protect the Affordable Care Act and ensure that rare disease patients have access to affordable coverage and treatments. Through the formation of Rare Disease Advisory Councils, we’re expanding representation of our community at the state level. Despite the pandemic, our efforts to help speed access to new rare disease treatments continue, through initiatives like the Rare Disease Cures Accelerator-Data and Analytics Platform and support of critical research and clinical trials through our grant programs. Most importantly, every day we hear from patients and caregivers across the country who need help. We are grateful that we can be there for them in these uncertain times with our COVID-19 emergency relief funds and other patient assistance programs. We do not do these things alone. You will hear NORD’s motto echoed throughout the program—Alone we are rare. Together we are strong. We’d like to take a moment to thank the tireless rare disease advocates who have created change for the entire community, congratulate the companies that had a therapy approved this year, and acknowledge the hard work and dedication of the leaders at the US Food and Drug Administration (FDA) and National Institutes of Health (NIH), who help make this progress possible. Our sincere thanks for joining us and congratulations to our Rare Impact Award and Industry Innovation Award honorees. Warmest regards,

Peter L. Saltonstall Marshall L. Summar, M.D. PRESIDENT AND CEO CHAIRMAN, BOARD OF DIRECTORS

8 TOGETHER WE ARE STRONG. EMCEE FOR THE EVENING John Whyte, MD, MPH

r. John Whyte, MD, MPH is a board- certified practicing physician who has been communicating to the public as well as private sectors on health and health policy issues for nearly 25 years. As someone who has been a regulator, researcher, educator, and media Dexecutive, Dr. Whyte brings a unique perspective. He is passionate about changing how we think about health. He is currently the Chief Medical Officer, WebMD. In this role, Prior to FDA, Dr. Whyte worked for nearly a decade as the Chief Dr. Whyte leads efforts to develop and expand strategic partner- Medical Expert and Vice President, Health and Medical Education ships that create meaningful change around important and timely at Discovery Channel, the leading non-fiction television network. In health issues. He is particularly interested in evaluating consumer this role, Dr. Whyte developed, designed, and delivered educational trends in digital health and how innovations – especially in programming that appealed to both a medical and lay audience. technology – change the way health care is delivered. This included television shows as well as online content that won Before joining WebMD, Dr. Whyte served as the Director of over 50 awards, including numerous Tellys, CINE Golden Eagles Professional Affairs and Stakeholder Engagement at the Center for and Freddies. Drugs Evaluation and Research. Dr. Whyte worked with health care Dr. Whyte is a frequent commenter on health care topics and professionals, patients and patient advocates, providing them with has written extensively, including two best-selling books, Is This a focal point for advocacy, enhanced two-way communication and Normal: The Essential Guide to Middle Age and Beyond and AARP collaboration. He helped them navigate the regulatory process in New American Diet: Lose Weight, Live Longer. He has also edited a way that was more accessible. In addition, he launched the Drug a book on medical device regulation and authored numerous Trials Snapshot program that details the participation in clinical articles on drug development and personalized medicine. He writes trials for all new drug approvals – the first in a series of efforts a monthly column for WebMD magazine, and hosts a podcast that by the FDA to help improve diverse representation and streamline often talks about the latest trends in medical innovation. the clinical trial process.

9 MUSICAL PERFORMANCE The cast of “Hemophilia: The Zoomsical”

rt has the power to change lives, which is why Believe Limited launched Breaking Through! and "Hemophilia: The Zoomsical," a theater workshop and art therapy program built for and created in partnership with teenagers from the bleeding Adisorders community. First launched in 2018 at New World Stages in New York City then executed regionally at patient education events throughout the US, the 2020 program was originally scheduled to take place in Los Angeles and Chicago with two separate casts. Once circumstances changed, the creatives, production team and casts quickly pivoted and threw their energy behind what became one big, unified "Hemophilia: The Zoomsical!"

10 TOGETHER WE ARE STRONG. 2020 HONOREES Alnylam Pharmaceuticals

Vertex Rare Cancer Pharmaceuticals Coalition AveXis

ALONE WE ARE RARE. TOGETHER WE ARE STRONG.®

Global Blood Daiichi-Sankyo Therapeutics Genentech

11 ®

2020

LIFETIME ACHIEVEMENT AWARD

Janet Woodcock, MD DIRECTOR, CENTER FOR DRUG EVALUATION AND RESEARCH, US FOOD & DRUG ADMINISTRATION

12 TOGETHER WE ARE STRONG. anet Woodcock, MD, has been an ardent advocate Accelerator initiative, which is intended to advance the framework for the rare disease patient community for several for rare disease drug development. decades. As Director of the Center for Drug Evalua- In recent years, more than a third of the new drugs approved tion and Research (CDER) at the US Food and Drug by CDER have been orphan drugs, and the percentage continues Administration (FDA), she has provided active and to increase. The investment community has favored the develop- successful leadership that has enabled hundreds ment of orphan drugs because they know that drugs for rare Jof new therapies for rare diseases to be developed. She is currently diseases will receive attention by the leadership at CDER and, serving in a special role in Operation Warp Speed, which is thanks to Dr. Woodcock, at the other FDA medical centers as well. dedicated to overseeing the rapid development of therapeutics Dr. Woodcock’s personal commitment to rare diseases is re- and vaccines for COVID-19. flected in her creation of offices within CDER that focus exclusively Dr. Woodcock received her MD from Northwestern Medical on rare diseases and orphan drugs. She has created internal train- School and held teaching appointments at the Pennsylvania State ing programs within CDER for medical reviewers on the special University and the University of California in San Francisco. She needs of patients with rare diseases and the factors that need to joined the FDA in 1986, initially serving as Director of the Office be considered in designing and reviewing clinical trials of orphan of Therapeutics Research and Review and Acting Deputy Director drugs. She has actively supported the concept that due to the in the Center for Biologic Evaluation and Research (CBER). In 1994 small patient populations for many rare diseases, CDER must exer- she joined CDER and has served there since, other than three years cise flexibility in helping researchers design clinical development (2005-2008) as Deputy Commissioner for Operations and Chief programs and studies for therapies for patients with rare diseases. Operating Officer for all of the FDA. She has been an active supporter of programs, many designed in She is recognized as one of the most innovative and creative conjunction with and implemented by NORD, that seek to gain a managers and leaders ever to serve at the FDA. Dr. Woodcock has better understanding of the natural histories of rare diseases and conceptualized many of the future-looking programs that have to establish patient registries that can help expedite the recruit- been adopted in the drug development and oversight process- ment of subjects into studies of orphan drugs. es at the FDA. She is known for assuring that all drugs approved Dr. Woodcock is a passionate advocate for incorporating the meet the highest standards for safety, efficacy and quality, and patient voice and experience into the drug development process. has streamlined FDA and CDER processes so that new drugs can Under her leadership, the door to CDER has been open to patient be developed without unnecessary delays, and are monitored organizations seeking to educate FDA medical staff about the pa- during actual use to enhance patient safety. tient experience with rare diseases, which has led to the initiation Some of the initiatives that Dr. Woodcock has overseen of more insightful and patient-friendly clinical programs. Patient include the development and implementation of the groups know that Dr. Woodcock is one of their most committed Sentinel system, which monitors drugs on a con- advocates and that because of her dedication, every patient tinuing basis for safety; the modernization of the with a rare disease has benefited. national adverse drug reaction reporting system; NORD is honored to present Dr. Janet Woodcock with the risk management (REMS) system which a Lifetime Achievement Award. has enhanced the safe use of new drugs; and the Rare Disease Cures

13 THE ABBEY S. MEYERS LEADERSHIP AWARD

RR NR NORD® OTON

14 TOGETHER WE ARE STRONG. ORD has been addressing the challenges rare cancer patients on how the pandemic has affected their that are consistent across all rare diseases participation in clinical trials, the RCC identified patients and care- since its inception in 1983. However, within givers who shared their questions and experiences on a special the subgroup of rare cancers, there are listening session. When the Department of Defense launched a unique issues that patients consistently face. new Rare Cancers Research Program through their Congressionally The Rare Cancer Coalition (RCC) was created Directed Medical Research Programs, the RCC provided patient Nso the extensive resources and programs of NORD could be specif- advocates and medical research speakers at special stakeholder ically applied to rare cancers. In addition, NORD has many member meetings to represent the rare cancer community. advocacy organizations focused on specific rare cancers. The RCC Last year, the coalition organized the first-ever global aware- provides an opportunity for them to come together, network and ness campaign for all rare cancers, reaching patients, caregivers, share information. Prior to its formation, there was no other unified medical professionals, industry and government stakeholders group of rare cancer advocacy organizations in the United States; around the world. In 2020, #RareCancerDay focused on the pos- by joining as a coalition, the RCC provides the strongest voice sibilities of genomic testing, with informational videos, patient possible to raise awareness and advocate on behalf of rare cancer stories, and an educational webinar featuring experts from the patients and researchers. Pediatric Oncology Branch of the National Institutes of Health When the US Food and Drug Administration’s Oncology and the Dana Farber Cancer Institute. Center of Excellence leadership sought to engage the rare cancer The world of rare cancers has been changing significantly in community on COVID-19's impact on research and to hear from recent years. Government organizations as well as biotech and pharmaceutical companies are demonstrating specific interest in rare cancers. As many people living with rare cancers have similar needs and challenges, creating a more cohesive representation of these cancers allows for more visibility and participation. The RCC brings forward opportunities for collaboration across research, awareness and education, impacting critical areas such as access to care and new clinical trials. This is an exciting time in the cancer research world, as the promise of advances like precision medicine and immunotherapy are improving outcomes for patients in real time. The Rare Cancer Coalition will continue its work to raise awareness of both the unique challenges faced by patients facing rare cancers, as well as the need for greater research funding. NORD is honored to present the Rare Cancer Coalition with a 2020 Abbey S. Meyers Leadership Award.

15 2020 RARE IMPACT AWARD / HONOREE Leadership Team | Clinic for Special Children

ennsylvania’s Clinic for knowledge is used to predict and prevent Special Children has provided disabilities in children, and the integration of its a medical home for patients clinical and laboratory services has generated with rare genetic diseases for many opportunities for research and scholarly over 30 years. By researching work, including natural history studies, clinical rare genetic mutations within trials and gene variant identification. Pthe Lancaster County Amish and Mennonite In the future, translational research and communities, the Clinic bridges the gap between innovation will be crucial to advancements in genomic research and the application of practical, treatments for rare disease. The Clinic has started patient-focused medicine. It is dedicated to the new programs like the Plain Insight Panel™, a idea that advanced molecular genetic techniques next generation sequencing assay that tests for can be integrated into local medical care over 1,300 genetic mutations in a single test, to to reduce childhood death, disability, ensure that practical, patient-focused medicine and chronic illness. is applied using cutting-edge technologies to From participating in provide the best care possible for patients. Each clinical trials for gene therapy year at the Clinic, new variants are discovered to innovating unique that cause disease in the populations it serves, metabolic formulas that demonstrating the ever-changing landscape of reduce brain damage in rare disease. patients with disorders The Clinic’s leadership team is grateful for like glutaric aciduria type being honored with a Rare Impact Award. “As a 1, the Clinic has impacted dedicated team of pediatricians, clinicians, nurses, thousands of lives. Its work scientific researchers, administrative staff and in preventing the suffering of patient advocates, we share NORD’s mission and vulnerable children and adults focus on the identification, treatment and cure has had countless ripple effects of rare diseases. We'd like to thank NORD for this for the entire community, beyond honor, and we are so grateful to the staff, board, the Amish and Mennonite populations it patients and supporters of the Clinic for Special serves. The power of genetic and biochemical Children.” NORD is honored to present the leadership team at the Clinic for Special Children with a 2020 Rare Impact Award.

16 TOGETHER WE ARE STRONG. 2020 RARE IMPACT AWARD / HONOREE Charlene York

or Charlene York, rare disease In the CMD world, the avenues of both is truly a family affair; both genetic therapy and drug development are her husband and 28-year- currently being explored. For Charlene, it is old daughter are living with exciting to see how researchers, patients and congenital muscular dystrophy families are coming together to find a cure or (CMD). CMD is a general term treatment. It is also gratifying to know that even Ffor a group of genetic muscle diseases that occur while a cure is being sought, living a happy, at birth or early during infancy and are charac- fulfilling life is possible. Both her husband and terized by diminished muscle tone, progressive daughter are doing well. Their rare disease is part muscle weakness and degeneration and other of their lives, but it doesn’t define either of them. symptoms. Determined to make a difference for When asked about the impact she is proudest her loved ones and others living with CMD, she of making for people living with rare diseases, began volunteering with Cure CMD in 2008. Charlene mentions being able to bring people According to Charlene, when she attended together and helping them to make connections the NORD Rare Diseases and Orphan Products as Ohio RAN Volunteer State Ambassador. Breakthrough Summit for the first time “I remember at one of the first Rare Disease in 2009, it broadened her view of Day events that I organized here in Ohio, I the critical need for education, witnessed a woman meeting someone else with research and advocacy for all her disease for the very first time. She had lived rare diseases. After successfully so long with the disease and was finally able to getting the last day of connect with someone who knew exactly what February permanently she was going through. We were all in tears,” declared Rare Disease Day Charlene says. “As for myself, I have always liked in Ohio, she decided to doing things for others and enjoy meeting new become more involved people. Making connections and seeing those with the Ohio Rare Action connections take root is so satisfying." Network (RAN) in order to NORD is honored to present Charlene York raise awareness regarding with a 2020 Rare Impact Award. rare diseases at the state and local levels.

17 2020 RARE IMPACT AWARD / HONOREE Erica Barnes

rica Barnes lost her young screening. She frequently speaks at national daughter Chloe to a rare and conferences and contributes to publications aggressive degenerative focused on rare diseases. disease, metachromatic Thanks to a bill she fought long and hard leukodystrophy (MLD). “I am for that bears Chloe’s name, Minnesota is now inspired by Chloe’s courage among a handful of states that have created an Eand also the bravery of the families I have met advisory council to advocate for the research along the way,” Erica says. “I have a vision that I and treatment of rare diseases. Erica is the council can rewrite the ending for future children with administrator of the Chloe Barnes Rare Disease rare diseases so that they have a happy ending.” Advisory Council and a member of the University Determined to make a difference in her of Minnesota Rare Disease Day planning home state of Minnesota, Erica has made committee. The vision of the Council is a addressing the needs of the rare Minnesota where every patient diagnosed with disease community a top priority. a rare disease has access to a timely diagnosis, As she tells it, her work with appropriate care and an effective treatment. the Rare Action Network in “Awards are meaningful to the degree that Minnesota has made her the organization awarding them is meaningful. grief in losing Chloe a point To be honored by an organization as respected of connection with others and dedicated to patients and families as NORD who have also suffered such is incredibly humbling and validating,” Erica says. a loss. Through her advocacy “I don't love having personal attention on me, work, Erica has represented but I am proud to accept this Rare Impact NORD as a Minnesota Rare Award on behalf of all the amazing Minnesota Action Network Volunteer advocates I work alongside, and in honor of all State Ambassador and provided the patients and families I have encountered public testimony at the federal along the way.” level in support of newborn NORD is honored to present Erica Barnes with a 2020 Rare Impact Award.

18 TOGETHER WE ARE STRONG. 2020 RARE IMPACT AWARD / HONOREE Julia Vitarello and Timothy Yu, MD, PhD

ulia Vitarello, Founder and CEO of chance at life. In less than a year, he and his team Mila’s Miracle Foundation and Dr. designed, received approval for and delivered Timothy Yu, a clinical neurologist and a genetically tailored antisense oligonucleotide neurogeneticist at Boston Children’s (ASO) drug to Mila. The world’s first FDA-approved Hospital, have worked closely to personalized medicine was affectionately named pioneer the first genetic treatment “Milasen.” Mila’s treatment would not have been Jcustomized for a single patient. Together, they are possible without the tireless efforts of Dr. Yu and turning a long-held dream into reality. the determination of Julia, who worked with him Julia’s daughter Mila was six years-old when to make crucial decisions while raising most of the diagnosed with a rare variant of Batten disease, funds necessary to make her daughter’s treatment and the prognosis was grim. The active little possible. girl was destined to lose her vision, The Milasen experience demonstrates the her ability to talk, walk, swallow and even- feasibility, safety and efficacy of rapid-turnaround tually her life. But Mila’s diagnosis was design and delivery of ASO treatments. Mila missing one mutation. No lab could find became the first person ever to receive an FDA- it. Dr. Timothy Yu committed to approved drug created to treat just one individual, the challenge. He investigated Mila’s and her story has made its way into the mainstream genome, spending evenings and media. Dr. Yu and Julia are now working to create weekends in his lab until he and his team a new personalized, rapid-turnaround treatment eventually identified a very unusual path for children across many life-threatening retrotransposon—or “jumping gene.” neurological diseases. In Mila’s case, the inserted DNA was an Scientists around the world are working to unwanted guest that created what replicate Mila's treatment approach, giving hope the cell thought was an exon, to more children across several other rare and fatal or protein-coding gene. It was diseases like Batten. disrupting assembly of the CLN7 NORD is honored to present Julia Vitarello gene, in turn compromising and Dr. Timothy Yu with a 2020 Rare Impact Award. production of the CLN7 protein. Dr. Yu then thought of how he might be able to give Mila a

19 2020 RARE IMPACT AWARD / HONOREE Norman Winnerman

orman Winnerman became basis. He has has done so ever since and has also involved in the world of served a three-year term on the CdLS Board of rare disease after the birth Directors. of the second of his three Shortly after retiring from a career in public granddaughters. Alison education, Norm was offered a part-time job Wells was born with a rare that wound up lasting 20 years, serving as Ngenetic birth defect diagnosed as Cornelia de Commissioner of the South-West Conference, Lange syndrome (CdLS). As Norm would soon a high school athletic league in Southwestern learn, CdLS is named after Dr. Cornelia de Lange Connecticut. When he retired for the second of the Netherlands, who in 1933 observed two time, he walked into the NORD office in children with similar physical features and Danbury and offered to help. Much to the medical problems in common and is now delight of everyone at NORD since then, he's credited with describing the collection been a regular visitor. of symptoms composing the Sadly, Alison died suddenly at the age of four syndrome that bears her name. and a half, the result of a medical complication A Connecticut resident, associated with the syndrome. Norm’s role as a Norm knew about NORD volunteer with the CdLS Foundation and NORD and reached out to the has enabled him to work behind the scenes to organization immediately lighten the load and help the staff members of after Alison’s diagnosis. both organizations do their core jobs: serving When he learned about patients and families. the CdLS Foundation in Being recognized for the volunteer work he’s Collinsville, CT, he met with done over the past 30 years is, in Norm’s words, the foundation’s Executive “A great honor not only for me, but also for my Director, who explained all she wife and my entire family. I know that I would not could about the rare disease and its be here with all of you were it not for a tiny little prognosis. Norm volunteered to help girl named Alison, who touched my heart and organize their 1992 Boston Conference, introduced me to a world I would never and soon began working on the CdLS Foundation’s have known. My life has been enriched by National Family Conferences on an ongoing the experience.” NORD is honored to present Norman Winnerman with a 2020 Rare Impact Award.

20 TOGETHER WE ARE STRONG. 2020 RARE IMPACT AWARD / HONOREE Patrick James Lynch

emophilia has long been 350 teens affected by hemophilia and other rare part of Patrick James blood disorders at the largest annual patient Lynch’s life; he lives with conference for hemophilia, and has built a theater the rare bleeding disorder, and arts therapy program for teens impacted lost his younger brother to by the disorder. The educational web series it, and has spent much of Patrick created has reached thousands of people Hhis professional career dedicated to improving online and lead to features in BuzzFeed, Fox the lives of hemophilia patients and families. News, PBS and the Huffington Post. His Unlike most rare diseases, there are numerous documentary on the first hemophiliac to attempt treatment options for hemophilia A, with many to climb Everest and the global disparities in more in the works. Patrick notes that it is vital hemophilia care has been seen by people around for people with hemophilia to understand the the world. treatment landscape in order to make fully Patrick and Believe Limited have helped empowered decisions about management to raise funds toward assisting communities in options and risk tolerance. developing countries and support millions of Media and entertainment have the dollars' worth of treatment product being power to spark imagination, decrease donated to hemophiliacs abroad via loneliness, increase connectivity humanitarian aid programs. He is extremely and empower young people to proud of the countless lives Believe Limited's see themselves in new ways. work has touched. Patrick’s company, Believe “The Rare Impact Award tells me that Limited, creates educational, NORD recognizes the importance of supporting awareness-building, and strong patient voices who are using media and fundraising content for entertainment to make a difference in the lives leading national and inter- of patients and families, and to influence the national patient advocacy public's perception of what it means to live with groups. Since 2015, Believe a rare disease. I am truly grateful for this honor,” Limited has honored over says Patrick. NORD is honored to present Patrick James Lynch with a 2020 Rare Impact Award.

21 2020 RARE IMPACT AWARD / HONOREE The Honorable Senator Sherrod Brown

enator Sherrod Brown has has made health insurance more affordable and represented Ohio in the US accessible for American families. This law also Senate since 2007. Prior to provides strong consumer protections that will serving in the Senate, he prevent insurers from placing limits on the care served as a United States patients receive and discriminating against Representative for the 13th consumers based on age or pre-existing health SDistrict for 14 years. He also previously served conditions. He has continued to support as Ohio’s Secretary of State, a member of the legislation to bolster patient protections and Ohio General Assembly, and has taught in Ohio’s make quality, comprehensive health care more public schools and at The Ohio State University. affordable for patients. Senator Brown has Throughout his time in public office, Senator cosponsored legislation to protect patients from Brown has been a champion of causes that surprise medical bills, to limit access to “junk” benefit the rare disease community. He insurance products that don’t cover essential has been the lead Senate sponsor medical services, and to support non-emergency of the Rare Disease Day resolu- medical transportation for patients with tion for many years and is a Medicaid. The Senator has led efforts to co-sponsor of several bills in improve mental health care options for Medicare the Senate that are ben- beneficiaries, and introduced legislation to help eficial to the rare disease low-income women and children access primary community. He played a key and preventative care. role in helping to pass the He is married to Pulitzer Prize-winning Affordable Care Act, which columnist Connie Schultz. They reside in Cleveland, Ohio, and have three daughters, a son, a daughter-in-law, three sons-in-law, and seven grandchildren. NORD is honored to present Senator Sherrod Brown with a 2020 Rare Impact Award.

22 TOGETHER WE ARE STRONG. 2020 RARE IMPACT AWARD / HONOREE The Honorable Representative Randi Clites

tate Representative Randi She served on the 2006 Legislative Task Clites (D-Ravenna) currently Force on the Future Funding of the state’s represents Ohio’s 75th Title V program, where she fought for Ohio’s most House District, which in- vulnerable children. She has served as Chair of cludes much of central and the Parent Advisory Council and is a past southern Portage County. recipient of the Advocate of the Year award from SA grassroots advocate at heart, Represen- the National Hemophilia Foundation for her tative Clites began her activism when her son continued work to increase awareness at the was diagnosed with a rare genetic bleeding local, state and national levels. disorder, then leukemia, at a young age. She In addition, she has been an active volunteer has since dedicated herself to giving back to in her community, working with Akron Children’s the community that has given her so much, Hospital, Portage County Big Brothers and Sisters fighting to increase access to quality, affordable and serving as a long-time softball coach in her health care and improve community services. community. Representative Clites has worked as NORD is honored to present Representative Associate Director of the Northern Ohio Randi Clites with a 2020 Rare Impact Award. Hemophilia Foundation, Advocacy Coordinator for the Ohio Bleed- ing Disorders Council and has represented Ohio through the Association of Maternal and Child Health Family Scholar Program.

23 2020 RARE IMPACT AWARD / HONOREE Peter Frampton

rampton Comes Alive! is Peter from various genres and generations. Each night Frampton’s breakout album, featured a different lineup, from Robert Cray to which established him as the late, great B.B. King. a superstar. It’s among the That experience informed his latest album, best-selling live albums of All Blues, which debuted at the top of the Bill- all time, selling more than board blues chart. The blues is about connection F17 million albums worldwide, producing hit and commiseration, but also celebration; in singles that have never gone out of rotation on declaring their pain, blues artists are also radio, and has become a coming-of-age totem proclaiming that they are alive. That’s especially for generations of fans who grew up in the personal to Frampton, who was diagnosed with ‘70s and ‘80s. inclusion body myositis (IBM), a rare inflamma- Following a hiatus in the 1990s, Peter tory disease that weakens and atrophies the Frampton has remained active and muscles in the arms, hands and legs. “I’ll always ambitious in his playing. On 2006’s be able to sing, but I don’t know how much lon- Fingerprints, he teamed up with ger I’ll be able to play guitar. Fortunately, I have an all-star backing band— a bunch of friends who can play guitar and help including members of the me out. Some of them are pretty good, too!” Rolling Stones, Pearl Jam Frampton’s sense of humor remains intact, and Frampton’s own guitar as does his determination to combat inclusion hero, Hank Marvin and the body myositis and other rare diseases. “My main Shadows—for an inventive thing outside music is the fundraising I’m doing set of originals and covers for myositis research at Johns Hopkins. I hope that won a Grammy to become the face of IBM and to advocate for it Award for Best Instrumental and all autoimmune diseases. My work is shout- Pop Album. ing loudly and raising money for our research,” In many ways he remains he says. “I’m honored to receive the Rare Impact a fan at heart, awed by the talents Award. It lifts my spirit to know that my voice and techniques of his peers. That’s what can help raise awareness for funding research motivated him in 2013 to launch the Guitar needed for rare diseases.” Circus, a touring revue featuring instrumentalists NORD is honored to present Peter Frampton with a 2020 Rare Impact Award.

24 TOGETHER WE ARE STRONG. 2020 INDUSTRY INNOVATION AWARD / HONOREE Alnylam Pharmaceuticals for Givlaari™

n November 20, 2019 approval, treatment options have only the FDA granted provided partial relief from the intense approval to Givlaari unremitting pain that characterizes these attacks. (givosiran) for the The drug approved today can treat this disease by helping to reduce the number of attacks that treatment of adult disrupt the lives of patients.” patients with acute The approval of Givlaari was based on the hepatic porphyria, a genetic disorder resulting in O results of a clinical trial of 94 patients with acute the buildup of toxic porphyrin molecules that are hepatic porphyria. Patients received a placebo formed during the production of heme (which or Givlaari. Givlaari’s performance was measured helps bind oxygen in the blood). by the rate of porphyria attacks that required “This buildup can cause acute attacks, hospitalizations, urgent health care visits or known as porphyria attacks, which can lead intravenous infusion of hemin at home. Patients to severe pain and paralysis, respiratory failure, who received Givlaari experienced 70% fewer seizures and mental status changes. These porphyria attacks compared to patients receiving attacks occur suddenly and a placebo. can produce permanent NORD is proud to present Alnylam neurological damage and Pharmaceuticals with a 2020 Industry Innovation death,” said Richard Pazdur, Award for bringing this important new treatment MD, Director of the FDA’s to patients. Oncology Center of Excellence and acting Director of the Office of Oncologic Diseases in the FDA’s Center for Drug Evaluation and Research. “Prior to today’s

*FDA press release announcing the approval of the treatment.

2425 2019 INDUSTRY INNOVATION AWARD / HONOREE AveXis, a Novartis Company for Zolgensma®

n May 24, 2019, the FDA spinal cord control muscle movement throughout approved Zolgensma the body. If there is not enough functional SMN (onasemnogene abep- protein, then the motor neurons die, leading to arvovec-xioi), as the first debilitating and often fatal muscle weakness. SMA gene therapy to treat chil- caused by mutations in the SMN1 gene is generally dren less than two years classified into several subtypes, based on the age Oof age with spinal muscular atrophy (SMA), the of onset and severity; infantile-onset SMA is the leading genetic cause of infant mortality. Zolgens- most severe and most common subtype. Children ma is a one-time treatment designed to address with this condition have problems holding their the genetic root cause of the disease by replacing head up, swallowing and breathing. These the function of the missing or nonworking SMN1 symptoms may be present at birth or may present gene. Administered during a single, intravenous by the age of 6 months. infusion, Zolgensma delivers a new, working copy Zolgensma is indicated for the treatment of of the SMN1 gene into a patient’s cells, halting children less than two years of age with SMA. The disease progression. product is an adeno-associated virus vector-based At the time of approval, acting FDA gene therapy that targets the cause of SMA. The Commissioner Ned Sharpless, MD, said vector delivers a fully functional copy of human “The potential for gene therapy products SMN gene into the target motor neuron cells. A to change the lives of those patients who one-time intravenous administration of Zolgensma may have faced a terminal condition, or results in expression of the SMN protein in a child’s worse, death, provides hope for the future.” motor neurons, which improves muscle movement SMA is a rare genetic disease caused and function, and survival of a child with SMA. by a mutation in the survival motor neu- Dosing is determined based on the weight of ron 1 (SMN1) gene. The gene encodes the the patient. survival motor neuron (SMN) protein – a AveXis, a Novartis company, is dedicated to protein found throughout the body, which developing and commercializing gene therapies is critical for the maintenance and function for patients and families devastated by rare and of specialized nerve cells, called motor life-threatening neurological diseases. neurons. Motor neurons in the brain and NORD is proud to present AveXis, a Novartis company, with a 2020 Industry Innovation Award for bringing this important new treatment to patients.

26 TOGETHER WE ARE STRONG. 2020 INDUSTRY INNOVATION AWARD / HONOREE Daiichi-Sankyo for Turalio™

n August 02, 2019, the Evaluation and Research. “Surgery is the FDA granted approval primary treatment option, but some patients to Turalio (pexidartinib) are not eligible for surgery, and tumors can recur, capsules for the even after the procedure. Today’s approval is the first FDA-approved therapy to treat this treatment of adult rare disease.” patients with TGCT is a rare tumor that affects the Osymptomatic tenosynovial giant cell tumor synovium (thin layer of tissue that covers the (TGCT) associated with severe morbidity or surfaces of the joint spaces) and tendon sheaths functional limitations and not responsive to (layer of membrane that covers tendons, which improvement with surgery. are fibrous tissue that connect muscle to bone). “TGCT can cause debilitating symptoms The tumor is rarely malignant but causes the for patients such as pain, stiffness and limitation synovium and tendon sheaths to thicken and of movement. The tumor can significantly affect overgrow, causing damage to surrounding tissue. a patient’s quality of life and cause severe NORD is proud to present Daiichi Sankyo disability,” said Richard Pazdur, MD, with a 2020 Industry Innovation Award for Director of the FDA’s Oncology Center bringing this important new treatment of Excellence and acting Director of the to patients. Office of Hematology and Oncology Products in the FDA’s Center for Drug

27 2020 INDUSTRY INNOVATION AWARD / HONOREE Genentech for Rozlytrek™

n August 15, 2019, the positive NTRK gene fusion status was determined FDA granted accelerated in local laboratories or a central laboratory using approval to entrectinib nucleic acid-based tests prior to enrollment. (ROZLYTREK, Genentech Among 54 adult patients, the overall Inc.) for adults and response rate as determined by independent pediatric patients 12 review was 57% (95% CI: 43, 71). Response Oyears of age and older with solid tumors that duration was 6 months or longer for 68% of have a neurotrophic tyrosine receptor kinase patients and 12 months or longer for 45% (NTRK) gene fusion without a known acquired of patients. The most common cancers were resistance mutation, are metastatic or where sarcoma, NSCLC, mammary analogue secretory surgical resection is likely to result in severe carcinoma, breast, thyroid, and colorectal. morbidity, and have progressed following treat- Efficacy in ROS1-positive metastatic NSCLC ment or have no satisfactory standard therapy. was investigated in 51 adult patients who FDA also approved entrectinib for adults received entrectinib at various doses and with metastatic non-small cell lung cancer schedules in the same three trials; 90% received (NSCLC) whose tumors entrectinib 600 mg orally once daily. The are ROS1-positive. overall response rate was 78% (95% CI: 65, 89) Efficacy in NTRK-positive and response duration was 12 months or longer tumors was investigated for 55% of patients. in 54 adult patients who NORD is proud to present Genentech with received entrectinib at a 2020 Industry Innovation Award for bringing various doses and schedules in one of three this important new treatment to patients. multicenter, single-arm, clinical trials: ALKA, STARTRK-1 (NCT02097810) and STARTRK-2 (NCT02568267); 94% received entrectinib 600 mg orally once daily. Identification of

28 TOGETHER WE ARE STRONG. 2020 INDUSTRY INNOVATION AWARD / HONOREE Global Blood Therapeutics for Oxbryta™

n November 25, 2019, Oxbryta was evaluated in more than 700 the FDA granted accel- trial participants as part of a robust clinical pro- erated approval to vox- gram. Data from the Phase 3 HOPE Study, which elotor (Oxbryta, Global were published in The New England Journal of Blood Therapeutics) Medicine in June 2019, showed that patients on for adults and pediatric Oxbryta achieved a rapid, robust and sustained Opatients 12 years of age and older with sickle improvement in hemoglobin and reduced red cell disease (SCD). blood cell destruction (hemolysis), and that Ox- SCD is a rare genetic blood disorder caused bryta has an acceptable safety profile. Based on by abnormal hemoglobin, the protein in red these data, the FDA granted accelerated approval blood cells that delivers oxygen throughout the of Oxbryta three months before the Priority Re- body. SCD affects approximately 100,000 peo- view action date and less than 5 years after initial ple in the United States and millions worldwide. studies in humans. It disproportionately affects those of The approval of Oxbryta represents an African descent, along with people of important shift in the SCD treatment paradigm. Hispanic, South Asian, Southern Euro- It moves the field away from managing symp- pean, and Middle Eastern ancestry. toms of SCD to addressing the root cause of the Oxbryta is the first and only disease and potentially preventing the long-term FDA-approved therapy that directly morbidity and mortality associated with it. inhibits hemoglobin polymerization, NORD is proud to present Global Blood the root cause of the sickling and Therapeutics with an Industry Innovation Award destruction of red blood cells that occurs in all during the 2020 Rare Impact Awards for bringing people with SCD. Oxbryta works by binding to this important new treatment to patients. hemoglobin, thereby increasing the red blood cell’s affinity for oxygen. This keeps the red blood cell in an oxygenated state and prevents it from sickling.

29 2020 INDUSTRY INNOVATION AWARD / HONOREE Vertex Pharmaceuticals for Trikafta®

n October 21, 2019 the making a novel treatment available to most FDA approved TRIKAFTA® cystic fibrosis patients, including adolescents, (elexacaftor/tezacaftor/ who previously had no options and giving ivacaftor and ivacaftor), others in the cystic fibrosis community access to the first triple combina- an additional effective therapy. In the past few tion therapy available years, we have seen remarkable breakthroughs Oto treat patients with the most common cystic in therapies to treat cystic fibrosis and improve fibrosis mutation. TRIKAFTA is approved for patients’ quality of life, yet many subgroups of patients 12 years and older with cystic fibrosis in cystic fibrosis patients did not have approved the United States who have at least one F508del treatment options. That’s why we used all avail- mutation in the cystic fibrosis transmembrane able programs, including Priority Review, Fast conductance regulator (CFTR) gene, which is Track, Breakthrough Therapy, and orphan drug estimated to represent up to 90% of the cystic designation, to help advance today’s approval Recreate LOGO fibrosis population. in the most efficient manner possible, while also On the day of the approval, acting FDA adhering to our high standards.” commissioner Ned Sharpless, MD Cystic fibrosis, a rare, progressive, life- said, “At the FDA, we’re consistently shortening disease, results in the formation looking for ways to help speed the of thick mucus that builds up in the lungs, development of new therapies for digestive tract and other parts of the body. It complex diseases, while maintain- leads to severe respiratory and digestive prob- ing our high standards of review. lems as well as other complications such Today’s landmark approval is a as infections and diabetes. testament to these efforts, NORD is proud to present Vertex Pharmaceuticals Incorporated with an Industry Innovation Award for bringing this important new treatment to patients.

30 TOGETHER WE ARE STRONG. BOARD OF DIRECTORS

The NORD Board of Directors includes representatives of NORD Member Organizations as well as individuals who have demonstrated leadership in serving the rare disease patient community.

CHAIRMAN Marshall Summar, MD Children’s National Medical Center

SECRETARY Steven A. Grossman HPS Group, LLC

DIRECTORS Rick Barr, MD Neil Horikoshi Arkansas Children’s Hospital Aplastic Anemia & MDS International Foundation Ronald J. Bartek Shafali Spurling Jeste, MD Friedreich’s Ataxia Research Alliance UCLA Susan A. Berry, MD Jim Palma University of Minnesota TargetCancer Foundation Susan Hedstrom Phillip L. Pearl, MD Foundation for Prader-Willi Research Boston Children’s Hospital Kay Holcombe Mike Porath Milken Institute The Mighty Board, Critical Path Institute Peter L. Saltonstall National Organization for Rare Disorders

31 CORPORATE COUNCIL MEMBERS

PRE-CLINICAL RESEARCH Global Blood Therapeutics, Inc. Amgen Rigel Pharmaceuticals Cabaletta Bio Hansa Medical Amicus Therapeutics, Inc. Sanofi Genzyme Dante Labs Helixmith Astellas Sarepta Therapeutics EdiGENE Insmed Incorporated AstraZeneca Sobi Exicure Ionis Pharmaceuticals AveXis, Inc. Spark Therapeutics Orna Therapeutics, Inc. LEO Pharma Biogen Strongbridge Biopharma Shape Therapeutics Lysogene BioMarin Pharmaceuticals, Inc. Takeda Oncology MeiraGTx Boehringer-Ingelheim UCB Pharma CLINICAL DEVELOPMENT Moderna Therapeutics Pharmaceuticals Vertex Pharmaceuticals Acceleron Pharma Momenta Pharmaceuticals Catalyst Pharmaceuticals Incorporated Aeglea BioTherapeutics Neurocrine Biosciences Chiesi Rare Diseases Akcea Therapeutics Orchard Therapeutics Ltd. CSL Behring BUSINESS MEMBER Apellis Pharmaceuticals Orphazyme Daiichi Sankyo AnovoRx Applied Therapeutics Ovid Therapeutics Deciphera APCO WorldWide argenx Passage Bio Dompé Biotechnology Industry Asklepion Pharmaceuticals, LLC REGENXBIO Foundation Medicine Organization (BIO) Atara Biotherapeutics Rocket Pharmaceuticals Ltd. Genentech, Inc. Children’s National Health System Audentes Therapeutics Sangamo Therapeutics GlaxoSmithKline PLC Eversana AVROBIO Savara Greenwich Biosciences, Inc. HPS Group LLC BioCryst Soligenix, Inc. Harmony Biosciences, LLC ICON bluebirdbio X4 Pharmaceuticals Horizon Therapeutics Massachusetts Biotechnology Blueprint Medicines Zealand Pharma Incyte Corporation Council (MassBio) BridgeBio Zogenix, Inc. Ipsen Medidata ChemoCentryx Mallinckrodt Pharmaceuticals Myriad Women’s Health Crisprtx APPROVED PRODUCT Novartis Parexel Cytokinetics, Inc. AbbVie Pharmaceuticals Otsuka America Pharmaceutical, Inc. PhRMA Dicerna Acadia Pharmaceuticals Pfizer, Inc. Syneos Health Editas Medicine Actelion Pharmaceuticals PTC Therapeutics Eiger BioPharmaceuticals Agios Pharmaceuticals Recordati Rare Diseases Eloxx Pharmaceuticals Alexion Pharmaceuticals, Inc. Regeneron Enzyvant Alnylam Pharmaceuticals Retrophin, Inc.

MEMBER ORGANIZATIONS

A Cure For Ellie ADNP-Kids Research Foundation All Things Kabuki American Multiple Endocrine A Cure in Sight Adrenal Insufficiency United Alpha-1 Foundation Neoplasia Support A Twist of Fate-ATS Adult Polyglucosan Body Disease Alport Syndrome Foundation American Partnership for Acid Maltase Deficiency Research Foundation ALS Association Eosinophilic Disorders Association Advocacy & Awareness for Alternating Hemiplegia of American Porphyria Foundation Acromegaly Community, Inc. Immune Childhood Foundation Amniotic Fluid Embolism ADCY5.org Disorders Association American Behcet’s Disease Foundation Alagille Syndrome Alliance Association Amyloidosis Foundation American Brain Tumor Association Amyloidosis Research Consortium, Inc.

32 TOGETHER WE ARE STRONG. MEMBER ORGANIZATIONS

Amyloidosis Support Groups, Inc. Chloe’s Fight Rare Disease Desmoid Tumor Research HCU Network America Aplastic Anemia & MDS Foundation Foundation Hemophilia Federation of America International Foundation, Inc. Cholangiocarcinoma Foundation DHPS Foundation Hepatitis Delta Connect - Hepatitis Appendix Cancer Pseudomyxoma Chromosome 18 Registry Dravet Syndrome Foundation B Foundation Peritonei Research Foundation & Research Society Dup15q Alliance Hereditary Neuropathy Foundation Association for Creatine Chromosome Disorder ECD Global Alliance Hermansky-Pudlak Syndrome Deficiencies Outreach, Inc. Erythromelalgia Association Network, Inc. Association for Frontotemporal Cicatricial Alopecia Research EURORDIS Hope for Hypothalamic Degeneration Foundation Familial Dysautonomia Foundation Hamartomas Association for Glycogen Storage Cloves Syndrome Community FamilieSCN2A Foundation HSAN1E Society Disease Cluster Headache Family Caregiver Alliance Hydrocephalus Association Association of Gastrointestinal Support Group, Inc. Fanconi Anemia Research Fund Hyper IgM Foundation, Inc. Motility Disorders, Inc. Clusterbusters, Inc. Fat Disorders Resource Society, Inc. Immune Deficiency Foundation Autoimmune Encephalitis Alliance CMT Research Foundation Fibrolamellar Cancer Foundation Incontinentia Pigmenti Autoimmune Hepatitis Association CMTC-OVM Netherlands Fibromuscular Dysplasia Society International Foundation Autoimmune Polyglandular CMTC-OVM -US of America Indian organization for Syndrome Type 1 Foundation COL4A1 Foundation Fibrous Dysplasia Foundation Rare Diseases Autoinflammatory Alliance Congenital Central Foundation Fighting Blindness International FOP Association, Inc. Association for X and Y Variations Hypoventilation Syndrome Foundation for Angelman International Foundation (AXYS) Family Network Syndrome Therapeutics for CDKL5 Research Barth Syndrome Foundation Congenital Hyperinsulinism Foundation for Ichthyosis International FOXG1 Foundation Batten Disease Support & Research International and Related Skin Types International FPIES Association Association Consortium of Multiple Sclerosis Foundation for Prader-Willi International Neuroendocrine Benign Essential Blepharospasm Centers Research Cancer Alliance Research Foundation, Inc. COPA Syndrome Foundation Foundation For Sarcoidosis International Pemphigus Bili Project Foundation Cornelia de Lange Syndrome Research & Pemphigoid Foundation Bohring-Opitz Syndrome Foundation, Inc. Foundation for USP-7 Related International Rett Syndrome Foundation, Inc. CRMO Foundation Diseases Foundation BORN A HERO, Pfeiffer’s Health CSNK2A1 Foundation FOXG1 Research Foundation (Cure Rett) and Social Issues Awareness Cure CMD FPIES Foundation International Sacral Agenesis/ Bridge the Gap-SYNGAP Education CURE HHT Foundation Friedreich’s Ataxia Research Caudal Regression Association & Research Foundation Cure SMA Alliance International WAGR Syndrome Calliope Joy Foundation CureCADASIL/CADASIL Galactosemia Foundation Association Canadian Organization for Rare Association, Inc. GBS|CIDP Foundation International International Waldenstrom’s Disorders Curing Retinal Blindness Genetic Alliance Macroglobulinemia Foundation Cardio-Facio-Cutaneous Foundation Genetic Alliance Australia ISMRD International Cushing’s Support & Research Global Foundation for Peroxisomal Jack McGovern Coats Disease Castleman Disease Collaborative Foundation, Inc. Disorders Foundation Network Cutaneous Lymphoma Foundation Glut1 Deficiency Foundation Joshua Frase Foundation for Cauda Equina Foundation Congenital Myopathy Research Cystic Fibrosis Foundation Gorlin Syndrome Alliance CHAMP1 Research Foundation KAT6A Foundation Cystinosis Research Network, Inc. Gut Check Foundation Charcot-Marie-Tooth Association Kennedy’s Disease Association, Inc. Danny’s Dose Alliance Guthy Jackson Charitable Children’s Craniofacial Association Defeat MSA Foundation Children’s PKU Network Children’s Tumor Foundation, Inc.

33 MEMBER ORGANIZATIONS

KIF1A.ORG National Adrenal Diseases Parent Project Muscular Dystrophy Scleroderma Foundation Klippel Trenaunay Support Group Foundation Parent to Parent New Zealand, Inc. Scleroderma Research Foundation KrabbeConnect National Ataxia Foundation Parents of Infants and Children SETBP1 Society LAL Solace, Inc. National Brain Tumor Society with Kernicterus Shwachman-Diamond Syndrome Legg Calve Perthes Foundation National Eosinophilia Myalgia PHACE Syndrome Community Foundation Life Raft Group Syndrome Network Phelan-McDermid Syndrome Sick Cells Li-Fraumeni Syndrome Association National Foundation for Foundation Snyder-Robinson Foundation, Inc. Lipoprotein a Foundation Ectodermal Dysplasias Pheo Para Alliance Sofia Sees Hope Lowe Syndrome Association, Inc. National Health Council Pituitary Network Association Soft Bones, Inc. Lung Transplant Foundation National Hemophilia Foundation PKD Foundation Spastic Paraplegia Foundation Lymphangiomatosis & Gorham’s National MPS Society Platelet Disorder Support Spina Bifida Association Disease Alliance, Inc. National Niemann-Pick Disease Association Spinal CSF Leak Foundation Marfan Foundation Foundation Prader-Willi Syndrome Association SSADH Association Martin Mueller IV Achalasia National Organization for Albinism (USA) Stevens Johnson Syndrome Awareness Foundation, Inc. & Hypopigmentation Primary Ciliary Dyskinesia Foundation Mastocytosis Society, Inc. National PKU Alliance Foundation Sudden Unexplained Death M-CM Network National PKU News PRISMS (Parents & Researchers in Childhood Foundation Mebo Research, Inc. National Spasmodic Dysphonia Interested in Smith-Magenis Taiwan Foundation for Melorheostosis Association Association Syndrome) Rare Disorders Mila’s Miracle Foundation National Tay-Sachs & Allied PSC Partners Seeking a Cure Talia Duff Foundation, Inc. MitoAction Diseases Association PTEN Hamartoma Tumor Tango2 Research Foundation Syndrome Foundation MLD Foundation National Urea Cycle Disorders TargetCancer Foundation Foundation Pulmonary Fibrosis Foundation Moebius Syndrome Foundation Tarlov Cyst Disease Foundation NBIA Disorders Association Pulmonary Hypertension Morgan Leary Vaughan Fund, Inc. Team Telomere NephCure Kidney International Association Mowat-Wilson Syndrome Tess Research Foundation PURA Syndrome Foundation Foundation Neuroendocrine Tumor Research The Avalon Foundation Foundation Rare & Undiagnosed Network MPN Research Foundation The Ehlers-Danlos Society Neurofibromatosis Network Rare Cancer Research Foundation MSUD Family Support The Jansen’s Foundation Neurofibromatosis Northeast Rare Kids Network, Inc. Mucolipidosis Type IV Thisbe and Noah Scott Foundation Foundation, Inc. NGLY1.org RASopathies Network USA TNA - The Facial Pain Association Multiple System Atrophy NICER Foundation Recurrent Respiratory Transverse Myelitis Association Papillomatosis Foundation Coalition, Inc. NTM Info & Research, Inc. Tuberous Sclerosis Alliance Reflex Sympathetic Dystrophy Myasthenia Gravis Foundation of Ocular Melanoma Foundation Turner Syndrome Society Syndrome Association America, Inc. Oley Foundation of the United States Rett Syndrome Research Trust Myelodysplastic Syndromes OMSLife Foundation United Leukodystrophy Foundation, Inc. Organic Acidemia Association Rothmund-Thomson Syndrome Foundation Foundation Myocarditis Foundation Organization for Rare Diseases United Mitochondrial Disease Myositis Association India RYR1 Foundation Foundation Myotonic Dystrophy Foundation Osteogenesis Imperfecta Sanfilippo Children’s Foundation United MSD Foundation Foundation Sarcoma Foundation of America Vasculitis Foundation SBS Cure Project Vestibular Disorders Association VHL Alliance Wilhelm Foundation

34 TOGETHER WE ARE STRONG. MEDICAL & SCIENTIFIC ADVISORS Marshall L. Summar, MD James E. Heubi, MD Chair, NORD Board of Directors and Strategic Advisory Committee Director, Clinical Translational Research Center Division Chief, Genetics and Metabolism, and Co-Director, Center for Clinical and Translational Science and Training Margaret O’Malley Chair of Molecular Genetics, Associate Dean, Clinical and Translational Research Children’s National Medical Center Professor, Department of Pediatrics Professor, Pediatrics, George Washington Cincinnati Children’s Hospital Medical Center University School of Medicine and Health Sciences James F. Leckman, MD Frederick Askari, MD, PhD Neison Harris Professor of Child Psychiatry, Associate Professor, Hepatology, Psychiatry, Psychology and Pediatrics Division of Gastroenterology and Yale Child Study Center Director, Wilson Disease Program Yale School of Medicine University of Michigan Health System Brendan Lee, MD, PhD Matthias Baumgartner, Prof. Dr. Med Robert and Janice McNair Endowed Chair in Molecular and Associate Professor for Metabolic Diseases, Human Genetics and University of Zurich and Professor and Chairman, Head, Division of Metabolics, Department of Molecular and Human Genetics Children’s Hospital Zurich Baylor College of Medicine Preston W. Campbell, III, MD James E. Lock, MD President and CEO, Cardiologist-in-Chief, Cystic Fibrosis Foundation and Boston Children’s Hospital Associate Professor of Pediatrics, Alexander S. Nadas Professor of Pediatrics, Johns Hopkins Cystic Fibrosis Center Harvard Medical School Harry (Hal) Dietz, MD Mary Jean Sawey, PhD Victor A. McKusick Professor of Genetics and Medicine, VP, Medical Director Investigator, Howard Hughes Medical Institute, Scientific Services, Johns Hopkins University School of Medicine and TRIO, an FCB Health Network Company McKusick-Nathans Institute of Genetic Medicine Susan Winter, MD Gregory M. Enns, MB, ChB Clinical Professor, Pediatrics, UCSF Associate Professor of Pediatrics (Genetics), Clinical Geneticist, Genetic Medicine and Metabolism, Lucile Packard Children’s Hospital Valley Children’s Hospital Associate Professor, Med Center Line, Pediatrics, Medical Genetics Doris T. Zallen, PhD Member, Child Health Research Institute, Professor Emerita of Science and Technology Stanford University School of Medicine Studies and Humanities, Virginia Tech University Marlene Haffner, MD, MPH President and CEO Haffner Associates, LLC

35 A SPECIAL THANK YOU TO OUR SPONSORS

NORD® is grateful to all of our supporters for making our programs and services for patients and their families possible. In particular, we would like to thank our sponsors for tonight’s Rare Impact Awards® celebration:

GOLD Astellas US LLC

SILVER

Alnylam Pharmaceuticals ✦ Amgen ✦ Apellis ✦ Biogen ✦ BioMarin Pharmaceuticals, Inc. Daiichi Sankyo ✦ Genentech, Inc. ✦ Greenwich Biosciences, Inc. Horizon Therapeutics ✦ Incyte Corporation ✦ Mallinckrodt Pharmaceuticals Retrophin, Inc. ✦ Sanofi Genzyme ✦ Takeda

BRONZE

Amicus Therapeutics, Inc. ✦ AveXis, Inc. ✦ Chiesi USA ✦ Global Blood Therapeutics, Inc. Illumina ✦ Ionis Pharma ✦ Insmed Incorporated ✦ Otsuka America Pfizer, Inc. ✦ Recordati Rare Diseases ✦ Regeneron ✦ Sobi ✦ Spark Therapeutics Ultragenyx Pharmaceutical Inc. ✦ Vertex Pharmaceuticals

SUPPORTERS

Actelion Pharmaceuticals ✦ Agios Pharmaceuticals ✦ AVROBIO ✦ bluebirdbio The Cute Syndrome Foundation ✦ Cytokinetics, Inc. ✦ The FPIES Foundation Neurocrine Continental ✦ Principia Biopharma ✦ REGENXBIO

36 TOGETHER WE ARE STRONG. GOLD 5/14/2019 9:59:57 AM @AstellasUS Astellas is committed to turning to is committed Astellas bring and value solutions that medical into science innovative hope to patients worldwide. Every day, we work together to address unmet address to together work we Every day, worldwide. patients hope to heart disease and bladder, overactive living with cancer, medical needs and help people and needs, meeting patients’ to dedicated remain We among other conditions. transplants, our support waver. them will never for a reality. on making tomorrow focused changing we’re Astellas, At 8x8_ColorAstellas.indd 1 We’re proud to support NORD and the 2020 SILVER Rare Impact Awards.

We are developing an innovative new class of medicines called RNAi therapeutics, which we believe have the potential to transform the lives of people living with rare and genetic diseases.

Learn more at alnylam.com

Apellis is proud to support the 2020 NORD Rare Impact Awards and would like to congratulate tonight’s honorees. In a community where everyone deserves our admiration, it takes true commitment to be honored by your peers. Apellis.com SILVER

Biogen is proud to sponsor the 2020 Rare Impact Awards® At Biogen, we are pioneering new science that takes us deep into the body’s nervous system, and stretches wide across digital networks and patient communities, to better understand, and preserve, the underlying qualities of our essential human nature. biogen.com SILVER SILVER rare diseases. Visit www.daiichisankyo.com tolearnmoreaboutourworkin all makeameaningfuldifference forrarediseasecommunities. Award. Through continued conversationsandcollaborations,wecan (National Organization forRareDisorders)2020IndustryInnovation We’re proudtoberecognized asoneofsixhonoreesforNORD’s patients, caregivers andallthose impacted. to bringmuch-neededtreatments andsupportto the extraordinary stridesbeing madeinrare disease Daiichi SankyocelebratestheworkofNORDand RARE IMPACTRARE AWARDS CELEBRATION 2020 HONOREES NORD CONGRATULATES BIOMARIN

CLN2 rare diseases,andtheircaregivers. ©2020 Inc.AllRightsReserved. BioMarinPharmaceutical education, research, and services education, research,andservices therapies moreaccessibleto therapies topatientswiththese We shareyourcommitmentto | that helppatientswhohave Together, wearebringing MPS I patients whoneedthem rare geneticdisorders Thank youformaking www.bmrn.com | MPS IVA | MPS VI . . the | PKU PP-US-ON-1122 08/20 SILVER

LEARN MORE AT: GENE.COM SILVER SILVER

Horizon is proud to support the National Organization for Rare Disorders (NORD) 2020 Rare Impact Awards.

Horizon is focused on researching, developing and commercializing medicines that address critical needs for people impacted by rare and rheumatic diseases. Our pipeline is purposeful: we apply scientific expertise and courage to bring clinically meaningful therapies to patients. At Horizon, we believe science and compassion must work together to transform lives.

horizontherapeutics.com SILVER WHERE OTHERS SEE COMPLEXITY,

WE SEE HOPE FOR PATIENTS SILVER AND FAMILIES

At Mallinckrodt, our focus is to improve the lives of patients worldwide. Making a difference is what drives us every day as we work to develop innovative therapies and cutting-edge technologies for patients with severe and critical conditions. We see challenges as opportunities to change lives. It is our passion. It is Mallinckrodt. Learn more at Mallinckrodt.com.

Congratulations to all the 2020 Rare Impact Award Honorees.

We are honored to support NORD’s 2020 Rare Impact Awards!

At Retrophin, we come to work every day to do something extraordinary that can make a difference in the lives of people living with rare disease.

Retrophin.com | @RetrophinRare SILVER

FOCUSED ON DEVELOPING SPECIALTY TREATMENTS for debilitating diseases that are often difficult to diagnose and treat, providing hope to patients and their families. Proud to Sponsor the 2020 Rare Impact Awards

www.sanofigenzyme.com SAUS.GZ.18.03.1378(1) 02/2020 SILVER BRONZE

AVEXIS IS PROUD TO BE A SPONSOR OF THE NORD RARE IMPACT AWARDS!

REIMAGINING TREATMENT BRONZE OF GENETIC DISEASES AveXis, a Novartis company, is honored to receive one of the 2020 Industry Innovation Awards. We are committed to continuing to make an impact by developing and commercializing gene therapies for patients and families devastated by rare and life-threatening neurological genetic diseases. For more information, visit www.avexis.com.

©2020 AveXis, Inc. US-UNB-20-0085 07/2020 EACH LIFE IS RARE. AND WE ARE COMMITTED BRONZE TO THE RAREST ONES. Chiesi is a patient-centered company; patients with rare diseases have unique needs, so we have a business unit that’s specifically committed to these key areas: Lysosomal storage disorders Rare hematologic disorders Rare ophthalmologic disorders

CHIESI IS THE LARGEST GLOBAL PHARMACEUTICAL BRONZE HOPE. AND THECOMPANY HARD WORK TO BE We strive for ethical TO FULFILL IT. AWARDED B CORP accountability and acting as 1 a force for good, which is why CERTIFICATION. we believe that: At GBT, we believe that the work of developing Certified B Corporations Principles should be based new treatments for underservedare patient for-profit companies on creating a positive impact communities extends beyond thethat lab. use It the power on nature and society requires compassion, support and advocacyof business to build a more inclusive Resources should be to understand how diseases like sickleand sustainable cell handled in a sustainable way impact patients. Transformingeconomy. lives They and meet the highest making hope a reality is averified commitment standards of social and A purpose should be defined environmental performance, beyond purely profit, for a we are dedicated to every day. 1 transparency, and accountability. broader, collective benefit Learn more about our commitment to patients with sickle cell disease at GBT.com.

LEARN MORE ABOUT WHAT www.chiesi.com WE ARE DOING IN RARE

DISEASES www.chiesi.com

1. Chiesi 2018 Annual Report. Available at : https://www.chiesi. com/flipbook.php?url=https://www.chiesi.com/img/annual_ report/documenti/29_annual-report-2018-_-english.pdf. Last accessed: December 19, 2019. Cod. RD_19_006. December 2019.

119CHUGXXXX_WSP_BagInsert_Chiesi_v3_5_PRF.indd 2 09/01/20 18:12 BRONZE

o improve hman health y nlocking the power of the genome.

celebrating yes And our commitment to delivering breakthrough medicines to patients POWERED BY PURPOSE BRONZE Our commitment to transforming the lives of people with rare diseases drives what we do.

At Otsuka, our purpose is to defy limitation, so that others can too.

We have an unwavering belief in going above and beyond— under any circumstances—for patients, families, providers, and each other. This deep-rooted dedication drives us to uncover answers to complex, underserved medical needs, so that patients can push past the limitations of their disease and achieve more than they thought was possible.

Otsuka America Pharmaceutical, Inc. Otsuka Pharmaceutical Development & Commercialization, Inc. July 2020 01US20EUC0180 BRONZE

Like you… BRONZE

We are Focused on the Few

At Recordati Rare Diseases, we focus on the few - those affected by rare diseases. They are our top priority and at the core of everything we do. Our mission is to reduce the impact of extremely rare and devastating diseases by providing urgently needed therapies.

Recordati Rare Diseases is a proud supporter of NORD www.recordatirarediseases.com/us @RecordatiRareUS and congratulates the 2020 Rare Impact Award Winners. NP-RRD-US-0179 REGENERON IS A PROUD

BRONZE SUPPORTER OF NORD AND CONGRATULATES THE 2020 RARE IMPACT AWARD WINNERS.

R E G E N E R O N . C O M | @ R E G E N E R O N BRONZE At Spark Therapeutics, we are committed to challenging the inevitability of genetic disease by discovering, developing BRONZE and delivering treatments in ways unimaginable – until now.

LEARN MORE: Visit www.sparktx.com, or contact [email protected] for more information.

Transforming Good Science into BRONZE Great Medicine for Rare Genetic Diseases

Ultragenyx congratulates NORD for their commitment to the rare disease community through programs of education, advocacy, and research.

ultragenyx.com

THE SCIENCE of POSSIBILITY Vertex creates new possibilities in medicine to cure diseases and improve people’s lives.

We work with leading researchers, doctors, public health experts and other collaborators who share our vision for transforming the lives of people with serious diseases, their families and society.

Interested in Forming a Foundation? It is estimated that more than 50% of rare diseases Topics addressed as part of this program include: don’t have organized representation or support, which • Establishing a 501c(3) tax-exempt organization leaves patients searching for resources and connections. • Leadership/Executive Director training NORD’s RareLaunch® Forming a Foundation program • Resources for recruiting a Board of Directors and provides education, training and support for patients Scientific and/or Medical Advisory Committee(s) to start nonprofits; for those already involved in • Promotion of the newly established organization to nonprofits, the program also builds capacity and continue to find and connect with members of the community through a targeted communications implements good governance practices to ensure approach their development is sustainable. • Development of social media platforms and strategies for continued engagement

Visit rarediseases.org/nord-rarelaunch to learn more about NORD’s RareLaunch® program

©2020 NORD. All rights reserved. NORD, its logo, and RareLaunch® are registered trademarks of the National Organization for Rare Disorders. NORD is a registered 501(c)(3) charity. NORD does not recommend or endorse any particular medical treatment but encourages patients to seek the advice of their clinicians. Donations to NORD for this and other programs may be made by contacting NORD at rarediseases.org. NRD-2003 The National Organization for Rare Disorders (NORD) is leading the fight to improve the lives of patients with rare diseases. We do this by supporting patients and organizations, accelerating research, providing education, disseminating information, raising public awareness and driving public policy.

ALONE TOGETHER WE ARE WE ARE RARE. STRONG.®

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