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1St Quarter 2020 1st Quarter, 2020 PORPHYRIA AWARENESS WEEK 2020 APRIL 18-25 #ASKMEABOUTPORPHYRIA Porphyria Awareness week is an op- pated in health fairs, educational seminars, portunity for you to create awareness fundraising and various media events. As in your community! We strive to dedicate we prepare for Porphyria Awareness Week, this week to promote Porphyria, reduce the we want to encourage you to enhance and stigma associated with porphyria through raise porphyria awareness within your local education and provide support for those communities. affected. The American Porphyria Foundation will The American Porphyria Foundation is here continue to partner with other internation- to support you with ideas, brochures, ma- al porphyria advocacy organizations to in- terials, social media fi les (including Logo crease awareness around porphyria. Files, DVDs, Porphyria Fact Sheets, Press Release – and any other support that you What are your plans this year for Porphyr- may need to raise awareness about Por- ia Awareness Week? We want to know - phyria in your community, to the general Send your plans to Iany Schneider, APF public or to physicians. In recent years, many of you have partici- Offi ce Manager, via email at [email protected]. WHAT CAN YOU DO? Wear purple for Porphyria! Some have had a class or an offi ce Assist at medical conventions or health fairs wear purple for the day in support of porphyria. to educate laypersons and physicians on porphyria. Ask your hospital or doctor if there is a local meeting Educate friends and family. Send an email, a so- where you can hand out materials or tell your expe- cial media post, or send a letter about your experience rience. Befriend your physicians, and they will share with porphyria. This is a great time to talk to a class or their newfound knowledge of the disease. host a lunch and learn. Volunteer your talents or skills to help achieve the education- Tell your story to local media. Help others by spreading your al programs of the APF. Interested in hosting a patient education experience. Television, newspapers, community magazines are meeting? Contact the APF today! looking for people who have undertaken the challenge with a rare illness. Purchase APF Merchandise. See the APF web- site for shirts and other APF products. Help others by sharing knowledge about por- phyria with your community, including your family Learn how to be an advocate in your daily life and members, friends and the physicians in your local share your knowledge everywhere. hospitals. Suggest that they host a seminar or a local meeting where you can hand out materials. START PLANNING NOW FOR Share your story on social media. It is an easy PORPHYRIA AWARENESS WEEK and effective way of getting porphyria in the public eye. APRIL 18-25, 2020 4915 St. Elmo Avenue, Suite 200, Bethesda, MD 20814 | 866.APF.3635 | www.porphyriafoundation.org | 1 HEME BIOSYNTHESIS AND THE PORPHYRIAS 2020: Consensus Diagnosis, Variant Disorders, New & Emerging Therapies also welcome to register for the scientifi c program. Registration on www.porphyriassymposium.org WE ENCOURAGE YOU TO INVITE YOUR The American Porphyria Foundation and international experts who will describe the PHYSICIAN TO THIS IMPORTANT CON- the Porphyrias Consortium (PC) of the clinical manifestations of each porphyria FERENCE! NIH-supported Rare Diseases Clinical Re- and the latest advances in their diagno- search Network (RDCRN) will host a 2.5 sis, management and treatment, including day educational symposium titled, “Heme newly approved and emerging therapies. PATIENT SESSION A concurrent pa- Biosynthesis and the Porphyrias 2020: Patients with each of the major porphyrias tient day will be held on Sunday, June Consensus Diagnoses, Variant Disorders, will be interviewed for patient perspectives. 28th, 10am-3pm. This will be a special New & Emerging Therapies” June 26-28, event with multiple expert physicians 2020 at the Hyatt Regency Schaumburg, This symposium is designed for physicians, presenting the latest information on the near Chicago, IL. especially hematologists, gastroenterol- porphyrias and emerging treatments. ogists, dermatologists, neurologists, ge- An “Ask the Experts” session will en- This educational symposium will focus on neticists, and emergency medicine practi- able you to bring your questions to an recent research fi ndings in heme biosyn- tioners, as well as researchers, predoctoral entire panel of porphyria experts! Visit thesis and advances in the diagnosis, man- and postdoctoral fellows and junior faculty www.porphyriassymposium.com to agement, and treatment of the porphyrias. who are interested in heme biosynthesis learn more. Registration is FREE! The program will include American and and the porphyrias. Patient advocates are SPECIAL MEDICAL MEETING: HOMOZYGOUS DEFICIENT ACUTE INTERMITTENT PORPHYRIA (HDAIP) The APF and the Porphyrias Con- This meeting was sponsored by friends and family supporting sortium hosted an unprecedented Kam Kadinger, age 3. Kam’s family is grateful to the dedicated half-day medical meeting January physicians who gathered to discuss HDAIP. “We don’t know what 18th. The purpose of the meeting the future holds for Kam,” shared his mom, Amanda Jordan, “but was to convene world-renowned we do know that we made a difference today by bringing together porphyria experts for a case study the greatest minds in Porphyria.” on an ultra-rare progressive form of Acute Intermittent Porphyria: HDAIP – Homozygous Dominant It was truly an incredible experience. We are grateful to the expert Acute Intermittent Porphyria. Physicians from the US gathered in physicians for their dedication and expertise. Bethesda, MD, with international experts joining by Skype. (Pictured: (l-r, top)Desiree Lyon; RJ Desnick, MD, PhD; Amanda Jordan; K. An- derson, MD; H. Bonkovsky, MD; M. Kazamel, MD; Kristen Wheeden; (l-r, bottom) They discussed current literature, review currented cases and S. Keel, MD; A. Lion, DO; A. Dickey, MD; M. Yasuda, MD; J. Phillips, PhD; (not considered potential therapeutic and quality of life possibilities. pictured) B. McGuire, MD; N. Dixon, MD) There are two known cases currently in the US, and only several more across the globe. PROPHYLACTIC HEME TREATMENT Prophylactic heme treatment is a measure ty, lost productivity, and health care burden. ty of life and better understanding of dis- taken to prevent porphyria attacks from We report two patients with such frequent ease. Prophylactic heme therapy, through occurring. Panhematin®, the fi rst FDA-ap- attacks of AIP, who have been managed a multi-disciplinary approach, decreases proved treatment for the acute porphyria, with prophylactic heme therapy on a week- the incidence of acute attacks, decreases is often administered as a prophylactic ly basis. We observed a 100% decrease health care costs and leads to better pa- treatment. This abstract, published by H. in acute attacks and inpatient admissions tient satisfaction and quality of life.” Bonkovsky, MD (Wake Forest Baptist Med- in one subject, and a 75% decrease in the ical Center, Winston-Salem, NC) helps to other. We also observed a signifi cant de- explain this use of Panhematin®: crease in the number of emergency room RESEARCH visits. The decrease in number of acute “Acute intermittent porphyria (AIP), an au- attacks requiring hospital admission was OPPORTUNITY! tosomal dominant inborn error of metabo- associated with signifi cantly decreased lism, is the most common and severe form If you are currently receiving prophy- health care costs and improved quality of lactic heme treatment, you may be of the acute porphyrias. Attacks of severe life. Reduction of both emergency visits abdominal pain, often with hypertension eligible to participate in the ongo- and hospital admissions decreased the uti- ing Panhematin® Prevention Study, and tachycardia, are cardinal features of lization of health care services. Outpatient AIP, often requiring hospital admissions. please contact Edrin Williams, Di- weekly infusions were also associated with rector of Patient Services, for more Frequent recurrent attacks, defi ned as > 3 better re-imbursements and reduced over- attacks in one year, during which at least information email: edrinw@porphyr- all costs of health care. Both our subjects iafoundation.org or 301.347.7166. one attack requires intravenous heme ther- endorsed better symptom control, quali- apy, are associated with signifi cant morbidi- 2 | 4915 St. Elmo Avenue, Suite 200, Bethesda, MD 20814 | 866.APF.3635 | www.porphyriafoundation.org PHARMA CORNER GIVLAARI UPDATE SCENESSE UPDATE Givlaari (Givosiran) is in- Clinuvel is focused on bringing Scenesse to the US. After the dicated for the treatment much-celebrated FDA approval on October 8, 2019, they went of adults with acute he- right to work. Preparations include executing FDA mandated patic porphyria and is currently available. post-approval requirements, developing the distribution process, Contact your physician to discuss this as a and negotiating arrangements with insurance companies. The potential treatment option. APF delivered a comprehensive report, including over 350 par- ticipants, with patient location and insurance information. We will offer an update on the Process: availability of this treatment as soon as we have one. 1. Make an appointment or talk to your physician about treatment with Givlaari. 2. Initiate the START FORM, available at MT-7117/MITSUBISHI TANABE PHASE 3 CLINICAL TRIAL www.givlaari.com. It can be completed during an offi ce visit or via email. There is a The positive results of the Phase 2 clinical trial last year paved section for each the patient and physician. the way for a Phase 3 trial. Stay tuned for detailed information 3. Contact Alnylam Assist for assistance from the American Porphyria Foundation regarding this exciting with understanding your benefi ts, fi nancial upcoming trial. assistance options, information on treat- ment and to facilitate product orders. The American Porphyria Foundation is avail- THE PHASES OF A CLINICAL TRIAL able to help if you have questions about this PHASE 1 Researchers test an experimental drug or treatment in a small group of people process.
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