No images? Click here Featured News and EventsACCESS THE LIVING RARE FORUM ON-DEMAND! Our sincerest thanks to those who joined us online during the Living Rare, Living Stronger NORD Patient and Family Forum, featuring the Rare Impact Awards on June 25-28. NORD welcomed individuals from around the world for a unique weekend of connecting through inspirational stories, educational workshops, and celebrating the Rare Impact Award winners. Missed the live event? Register now to access hours of quality patient and expert-led plenaries, information, and wellness sessions. We hope to see you in 2022! NORD RARE DISEASES & ORPHAN PRODUCTS BREAKTHROUGH SUMMIT The NORD Rare Diseases and Orphan Products Breakthrough Summit, happening on October 18-19, 2021, is one of the most impactful multi-stakeholder gatherings of the rare disease community. This year's event will again be virtual so that we can safely connect on the critical topics we are facing. We are currently seeking poster abstract submissions in the following focus areas:
STRATEGIC PLANNING WEBINAR FOR BEGINNERS NOW AVAILABLE Are you interested in forming a foundation or taking your organization to the next level? This webinar, presented as part of NORD’s RareLaunch program, helps leaders and staff of rare disease nonprofit organizations understand the principles behind effective planning. NORD member organization ACPMP Foundation shares their experience with developing and implementing an organizational roadmap. EVENTS AND RESOURCES NORD Assistance Programs NORD offers programs to help rare disease patients and caregivers access the support they need. These programs provide medication, financial assistance, respite and more for those who qualify. NORDpod: The Voice of Rare Disease NORDpod is tackling the the most important conversations currently happening in the rare disease space. Listen to new episodes every other Wednesday wherever you find your podcasts. Continuing Medical Education Sessions NORD and PlatformQ Health are pleased to bring you accredited, accessible, digital courses on rare disease education. Available sessions are appropriate for both patients and providers. Advocacy and Policy NewsTAKE ACTION NOW! Ask Lawmakers to Support the Medical Nutrition Equity Act Many insurance companies do not provide coverage for medically necessary nutrition, even though some rare disease patients depend on it to treat their condition. If passed into law, the Medical Nutrition Equity Act would require public and private insurance to cover medical nutrition. Reach out to your members of congress now and ask them to co-sponsor this important legislation. Ask Your Members to Contact their Senators to Support the National Institutes of Health (NIH) The federal budget process is underway! Many treatments for rare diseases have been developed from the work done by the NIH, and it is critically important to ensure this support continues in order to help current and future generations. Ask your senators to support robust NIH funding today. POLICY VICTORIES NORD Issues Statement on Supreme Court Challenge to the ACA In June, the US Supreme Court issued a decision effectively upholding the Affordable Care Act (ACA) by a 7-to-2 vote. This ruling is a triumph for all patients with a rare disorder and their loved ones, and will ensure that patients retain the vital protections and access to care enabled by the ACA. Read NORD's statement celebrating this announcement. Louisiana Becomes the 18th State to Enact RDAC Legislation House Bill 460, to establish an RDAC, passed both chambers of the Louisiana State Legislature unanimously and was signed into law by Governor John Bel Edwards on Monday, June 14. NORD, along with 28 other patient organizations, submitted a letter of support to show the broad community support for an RDAC. Congratulations to our Louisiana advocates! Florida Becomes the 19th State to Enact RDAC Legislation Senate Bill 272/House Bill 1373, legislation to establish an RDAC in Florida, was signed into law by Governor DeSantis on Monday, June 21. Florida’s volunteer State Ambassadors and Volunteer Community Engagement Liaison submitted written testimony that shared their connections to the rare disease community before the bill was heard in nine different committee hearings, and before the full Senate and House votes took place. Congratulations to our Florida advocates! House Passes Newborn Screening Saves Lives Reauthorization Act of 2021 On Wednesday, June 23, the US House of Representatives passed the Newborn Screening Saves Lives Reauthorization Act (HR 482), which will support and strengthen the federal newborn screening program. Across the US, newborn screening saves or improves the lives of more than 12,000 infants every year. South Carolina Becomes the 20th State to Enact RDAC Legislation Last month, Governor Henry McMaster signed into law provisions creating South Carolina’s RDAC. This RDAC will be housed within the Medical University of South Carolina (MUSC) and was part of the annual budget, which will require renewal next year to ensure the RDAC continues. This is a great step forward and NORD looks forward to working with South Carolina legislators next year to make these budget provisions permanent. Thanks to all our advocates for helping to get an RDAC established in South Carolina! TOOLS FOR ADVOCACY Check out the most recent Project RDAC webinar and toolkit On Thursday, June 10, NORD hosted a webinar with representatives from the Minnesota, Nevada, and Tennessee RDACs to discuss the how to implement these important programs! Want to learn more? View the recording and toolkit here. FDA News Recent Drug Approvals
Patient ResourcesFOURTEEN RARE DISEASE REPORTS UPDATED Over the last month, NORD's Educational Initiatives team updated 14 rare disease reports in the Rare Disease Database® and added a new report on prurigo nodularis. UPCOMING LINKEDIN LIVE EVENT: THE DIAGNOSTIC ODYSSEY, A RARE DISEASE BOOTCAMP When you have a child, you want the best for that child in every way. For parents of children born with a genetic disorder, a correct diagnosis is the first step to receiving proper care. Unfortunately, there are many logistical and financial complications that make the diagnostic odyssey challenging for rare disease parents. Rare moms Amber Freed, Brittany Stineman, and Illumina Genetic Counselor Holly Snyder will give you everything you need to know in this one-hour live session. Patient RecruitmentUNDIAGNOSED RARE DISEASE REGISTRY With the Undiagnosed Rare Disease Registry, NORD’s goal is to provide a bird’s eye view of the undiagnosed landscape so we can better support patients and aid in the development of improved diagnostic methods and treatments. By participating in the registry, you are helping to drive research forward. Make a difference by signing up for the Undiagnosed Rare Disease Registry. THE GLOBAL PAROXYSMAL NOCTURNAL HEMOGLOBINURIA (PNH) PATIENT REGISTRY The Global PNH Patient Registry is a powerful opportunity for individuals with PNH and their family members to contribute directly to research that will enhance our understanding of PNH, thus facilitating the development of new diagnostic and treatment options. Participation is especially vital given the rarity of PNH. Every patient experience is a unique and invaluable part of the natural history of PNH. NORD NATURAL HISTORY OF METACHROMATIC LEUKODYSTROPHY (HOME) STUDY Hosted by NORD’s IAMRARE™ platform, the HOME Study enables patients and caregivers to contribute directly to research from the comfort and safety of their home, without the demands and challenges of traveling to a study site. The study will provide dynamic data collection and a new framework for building regulatory-grade rare disease natural history studies. AUTOIMMUNE PULMONARY ALVEOLAR PROTEINOSIS (APAP) Savara, Inc. is sponsoring an interventional, randomized, double-blind, two-arm, parallel groups, placebo-controlled, multi-center, phase 3 trial of once daily treatment with inhaled molgramostim or placebo for 48 weeks in adult patients with aPAP. More. BATTEN DISEASE Neurogene, Inc. is sponsoring a study to investigate the clinical characteristics and natural clinical progression of symptoms in patients with the CLN5 and CLN7 forms of Batten disease. This natural history study is being conducted to better understand disease course and to determine clinically relevant outcome measures for use in future clinical trials. More. CHRONIC THROMBOEMBOLIC PULMONARY HYPERTENSION (CTEPH) Actelion Pharmaceuticals is sponsoring a study to assess the efficacy and safety of selexipag in patients with inoperable or persistent/recurrent CTEPH. More. Actelion Pharmaceuticals is sponsoring a study to evaluate the effect of macitentan 75 mg versus placebo on exercise capacity at week 28 in patients with CTEPH. More. CONGENITAL ADRENAL HYPERPLASIA Adrenas Therapeutics, Inc. is sponsoring a study to evaluate the safety, tolerability, and efficacy of AAV5 based BBP-631 in adult patients with classic congenital adrenal hyperplasia. More. EOSINOPHILIC ESOPHAGITIS (EOE) AstraZeneca Pharmaceuticals is sponsoring a phase 3 study is to investigate the use of benralizumab as a treatment for patients with EoE. More. EOSINOPHILIC GRANULOMATOSIS WITH POLYANGIITIS (EGPA) AstraZeneca Pharmaceuticals is sponsoring a randomized, double blind, active-controlled, parallel group, multicenter 52-week phase 3 study to compare the efficacy and safety of benralizumab 30 mg versus mepolizumab 300 mg administered by subcutaneous injection in patients with relapsing or refractory EGPA on corticosteroid therapy with or without stable immunosuppressive therapy. More. FRONTOTEMPORAL DEMENTIA WITH PROGRANULIN MUTATIONS (FTD-GRN) Prevail Therapeutics is sponsoring a phase 1/2, multi-center, open-label ascending dose, first-in-human study that will evaluate the safety and effect of intra-cisternal PR006 administration on progranulin protein (PGRN) levels in patients with FTD-GRN. More. GAUCHER DISEASE TYPE 2 Prevail Therapeutics is sponsoring an open-label, phase 1/2, multicenter study to evaluate the safety and efficacy of single-dose PR001 in infants diagnosed with type 2 Gaucher disease. More. HYPEREOSINOPHILIC SYNDROME (HES) AstraZeneca Pharmaceuticals is sponsoring a multicenter, randomized, double-blind, parallel-group, placebo-controlled, 24-week phase 3 study to compare the efficacy and safety of benralizumab versus placebo administered by subcutaneous injection every four weeks in patients with HES. More. PARKINSON DISEASE WITH GBA1 GENE MUTATION Prevail Therapeutics is sponsoring a phase 1/2a, multicenter, open-label, ascending dose, first in-human study that will evaluate the safety of intracisternal PR001 administration in patients with moderate to severe Parkinson disease with at least 1 pathogenic GBA1 gene mutation. More. PULMONARY ARTERIAL HYPERTENSION (PAH) Actelion Pharmaceuticals is sponsoring a study to evaluate whether the addition of selexipag to standard of care treatment delays disease progression in children with PAH in comparison to placebo. More. Actelion Pharmaceuticals is sponsoring a study to investigate whether selexipag could be helpful in treating patients with sarcoidosis-associated pulmonary hypertension. More. SURVEY ON PRENATAL CELL AND GENE THERAPIES FOR HEMOPHILIA A Wake Forest School of Medicine is conducting an online research survey to determine opinions regarding the use and risks of prenatal therapies (treating the fetus prior to birth) for genetic disorders such as hemophilia A. Patients, family members and others interested in this topic are invited to complete the survey, which takes about 15 minutes. Detailed information can be found on the survey page. For questions, contact Graça Almeida-Porada, MD, PhD, Principal Investigator, at galmeida@wakehealth.edu and use “Prenatal Survey” on subject line. RDCA-DAP News
Member News AMERICAN PARTNERSHIPS FOR EOSINOPHILIC DISORDERS (APFED) APFED is accepting research poster submissions for its EOS Connection 2021 Patient Education Conference for Eosinophil-Associated Diseases, July 14-16. There is no cost associated with submission or conference attendance. More. AMERICAN PORPHYRIA FOUNDATION The American Porphyria Foundation is hosting “Heme Biosynthesis and the Porphyrias 2021: Consensus Diagnoses, Variant Disorders, New & Emerging Therapies,” to be held on October 15-17, at the Hyatt Regency Schaumburg near the Chicago O’Hare Airport. The symposium offers up to 25 CME credits. More. CUREDUCHENNE The CureDuchenne 2021 FUTURES National Conference is a two-day event focused on bringing education, resources, and connection to the Duchenne community in a family-friendly environment. This year’s conference agenda and special events will focus on Quality of Life, with multiple social events, robust presentations and panel discussions, a symposium, a resource fair, an e-gaming lounge, and child care. More. INTERNATIONAL PEMPHIGUS AND PEMPHIGOID FOUNDATION (IPPF) Join the IPPF on Sunday, July 11 from 2-4pm ET for the Virtual Florida Support Group. Living with pemphigus or pemphigoid is hard enough, but when you feel alone it seems even harder. There's something special about connecting with people who really know what you're going through. This is a virtual meeting. Register online. More. INTERNATIONAL RETT SYNDROME FOUNDATION The International Rett Syndrome Foundation recently named 15 Rett Syndrome Centers of Excellence to enhance and expand care for the Rett syndrome community. More. JACK MCGOVERN COATS’ DISEASE FOUNDATION The Jack McGovern Coats' Disease Foundation announced 2021 Research Grants for Coats' Disease and Education Grants for Junior Retina Fellows to attend in-person and virtual retina conferences to learn about or present research on Coats' disease. More. LIFE RAFT GROUP In this latest issue of LRG Science, the Life Raft Group Medical Advisory Board was asked key questions about important issues for GIST patients. More. MOWAT-WILSON SYNDROME FOUNDATION The Mowat-Wilson Syndrome Foundation is ready to hire its first Executive Director. Interested parties can contact Deborah Curry at debyc@mowat-wilson.org. MYHRE SYNDROME FOUNDATION The first ever international Myhre Syndrome Foundation Virtual Conference is taking place on July 10-11. For families, doctors and researchers, the two-day conference will cover many topics from cardiology and ENT through to genetics and physical therapy. The experts will detail latest treatment plans, research findings, and clinical updates. More. NATIONAL LMS FOUNDATION The National Leiomyosarcoma Foundation is looking for a volunteer ($15/hr) to produce the final version of weekly newsletters from the foundation in Mailchimp platform, as well as occasional website updates. Email: annieachee@aol.com or call 303 808-3437 for more information. NATIONAL TAY-SACHS & ALLIED DISEASES ASSOCIATION (NTSAD) NTSAD is hiring their first Director of Clinical and Research Initiatives to engage with key stakeholders and focus on the discovery and development of treatments, diagnostics and technologies for Tay-Sachs, Canavan, GM1 gangliosidosis, and Sandhoff diseases. More. PRISMS, INC. The first ever PRISMS Virtual Summit will be taking place on September 9-11, 2021. Registration for the Virtual Summit will open on Monday, July 19. The first 100 attendees to register will receive a PRISMS swag bag! More. SICKLE CELL DISEASE ASSOCIATION OF AMERICA Sickle Cell Disease Association of America partnered with the Sickle Cell Community Consortium to advocate for legislation benefiting people with sickle cell disease and their families. The partnership includes collaboration on the association’s annual advocacy day initiatives, meetings and trainings, and in developing federal legislative priorities. More. SIEGEL RARE NEUROIMMUNE ASSOCIATION SRNA hosted an Ask the Expert podcast, in collaboration with Centers for Disease Control and Prevention, on “The Role of CDC and Public Health in AFM Surveillance, Part I.” Speakers included Dr. Janell Routh of CDC, Dr. Ben Greenberg of UT Southwestern Medical Center, and Emily Spence Davizon of the Colorado Department of Public Health and Environment. More. SLC6A1 CONNECT New SLC6A1 (GAT1) research has been published on the common molecular mechanisms of SLC6A1 variant-mediated neurodevelopmental disorders in astrocytes and neurons. More. SPINAL CSF LEAK FOUNDATION Registration is now open for Spinal CSF Leak Foundation's Fourth Annual Cedars-Sinai Intracranial Hypotension Symposium, which will have both virtual and live in Los Angeles, CA, on Saturday, October 2, 2021! More. THE ASSOCIATION FOR FRONTOTEMPORAL DEGENERATION (AFTD) AFTD envisions a world with compassionate care, effective support, and a future free of FTD. They are hiring, and you can view the positions available today. Make a difference with AFTD! More. THE MAST CELL DISEASE SOCIETY The Mast Cell Disease Society is hiring! Looking to make a difference in the rare community? They are seeking a Research Fellow to join their team. More. |