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Featured News and Events

NORD Summit official graphic
RDCA-DAP workshop information
REGISTRATION IS OPEN FOR NORD SUMMIT
Join your peers on October 17-18 in Washington, DC for the 2022 Rare Diseases and Orphan Products Breakthrough Summit
!

NORD is thrilled to welcome you back in person to discuss important topics in the rare community, including accelerated approval, data sharing, and global access to medicines, diagnosis, and health services. We look forward to this year's robust agenda, networking opportunities, and poster presentations!

Early bird discounts ends Friday, September 2.

REGISTER FOR THE 2022 RDCA-DAP ANNUAL WORKSHOP
Registration is open for the 2022 RDCA-DAP Annual Workshop taking place on September 13-14!

Attendees of the 1.5-day workshop will leave with an understanding of:

  • RDCA-DAP's current and future impact on drug development

  • How RDCA-DAP is unique in supporting multiple data and analysis-types across rare diseases

  • The critical importance of building a rare disease community that works together to share optimal data and generate actionable solutions

    Advocacy News

    STATEMENT ON PASSAGE OF THE INFLATION REDUCTION ACT
    On Tuesday, August 16, President Joe Biden signed the Inflation Reduction Act (IRA) into law . This legislation includes multiple provisions impacting patients with rare disorders and their ability to access affordable and comprehensive health care. The IRA extends the American Rescue Plan’s authorization of enhanced premium tax credits for three years, creates an out-of-pocket cap on prescription drugs for Medicare Part D beneficiaries, and allows Medicare to negotiate the prices of certain prescription drugs.

    ASK YOUR MEMBERS OF CONGRESS TO SUPPORT THE ACCELERATING KIDS' ACCESS TO CARE ACT
    Right now, Congress has the opportunity to help millions of children with rare diseases access time-sensitive treatment by reducing unnecessary barriers to care across state lines.

    Too often, children with rare conditions must travel significant distances or out of state to receive necessary medical care. Unfortunately, barriers to out-of-state treatment can be even more difficult for children whose health care coverage is through Medicaid or the Children’s Health Insurance Program (CHIP). These programs are a significant source of coverage for children living with rare diseases and other complex medical conditions, but they can present notoriously burdensome hurdles when trying to obtain out-of-state care. Fortunately, there is something we can do about it.

    The Accelerating Kids’ Access to Care Act is bipartisan legislation that would create an improved, streamlined process for instances when children with Medicaid and CHIP coverage need to access out-of-state medical care.

    Educational Resources

    NORD's Educational Initiatives team updated the report on porphyrias in the Rare Disease Database®.

    FDA News

    RECENT DRUG APPROVALS
    Enhertu (fam-trastuzumab-deruxtecan-nxki) has been approved to treat patients with unresectable or metastatic HER2-low breast cancer. Enhertu is manufactured by Daiichi Sankyo. Read the press release.

    Research Opportunities
    AAMDS logo
    THE GLOBAL PAROXYSMAL NOCTURNAL HEMOGLOBINURIA (PNH) PATIENT REGISTRY
    What’s unique about the Global PNH Patient Registry? It’s patient-powered! Anyone diagnosed with paroxysmal nocturnal hemoglobinuria (PNH) can join the Registry and share their experiences. Your story is unique to you and sharing it will help drive PNH research forward!
    NORD HOME Study graphic
    NORD'S NATURAL HISTORY OF METACHROMATIC LEUKODYSTROPHY STUDY
    Metachromatic Leukodystrophy research needs YOU! Get involved in progressing innovation by enrolling in NORD’s HOME Study and challenging others to do the same.
    CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY (CSID)
    QOL Medical, LLC is sponsoring an open-label, phase 4, multi-center study to evaluate the use of a 7-day therapeutic trial dose of sarcrosidase (Sucraid) in alleviating CSID symptoms in pediatric patients with low, moderate and normal sucrase levels. More.

    SYSTEMIC SCLEROSIS
    Genentech, Inc. is sponsoring a double-blind, randomized, placebo-controlled, multicenter study to evaluate the safety, efficacy, tolerability and pharmacokinetics of multiple-ascending doses of RO7303509 in patients with systemic sclerosis. More.  

    Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP) News

          WEBINAR RECORDINGS AVAILABLE
          On Wednesday, July 27, NORD hosted the webinar “Drug Development for Rare Diseases: A Community Conversation.” The recording is now freely available to view.

          The fourth RDCA-DAP webinar in the 2022 Professional Webinar Series was held on Wednesday, August 17, 2022. You can view “Addressing the Gaps in Clinical Trial Readiness for Facioscapulohumeral Muscular Dystrophy (FSHD)” on-demand now.
          FIND RDCA-DAP AT CONFERENCES
          Members of the RDCA-DAP team will be at upcoming conferences in September, including the Rare Disease Cures Accelerator-Data and Analytics Platform Annual Workshop, the 2022 Annual Meeting of the American College of Clinical Pharmacology and the 2022 International Conference on Biomedical Ontologies.

          Member News

          BARTH SYNDROME FOUNDATION
          The Barth Syndrome Foundation and the National Neutropenia Network and will be hosting a neutropenia educational series over the next three months. Join the September-November events to learn about neutropenia from experts who will focus on the specific concerns patients and parents have expressed about living with or raising a child who suffers from this lifelong condition. Learn more.

          BCM FAMILIES FOUNDATION (BCMFF)
          BCMFF is pleased to invite all patients and family members affected by Blue Cone Monochromacy (BCM) to the BCM Families Meeting which will take place on Thursday, October 1 in Charlotte, NC at the Omni Charlotte Hotel. The one day in-person meeting will include discussion on gene therapy for BCM, diagnosis, possible solutions to everyday BCM challenges, and more! Learn more.

          The BCM registry is an online patient registry dedicated to blue cone monochromacy (BCM) and was established by BCMFF. The BCM registry is a milestone along the path toward advancing clinical trials of innovative therapies. If you or a family member have received a genetic diagnosis of blue cone monochromacy, you are invited to join the BCM patient registry. Learn more.

          CHILD AND YOUTH CARE ZIMBABWE
          Child and Youth Care Zimbabwe is excited to share with you an article by RARE Revolution Magazine featuring Child and Youth Care director, Trudy (Kawome) Nyakambangwe. The article discusses the challenges that the rare disease community faces in Zimbabwe, and how at Child and Youth Care drives change through advocacy, awareness-raising, practical support, and research. Learn more.

          COALITION TO CURE CALPAIN 3
          Join the Coalition to Cure Calpain 3 and other limb-girdle muscular dystrophy (LGMD) coalition members on Friday, September 23 for an externally-led patient-focused drug development Meeting (EL-PFDD). This EL-PFDD will focus on six subtypes of LGMD and will provide FDA members, clinicians, medical product developers, and academic researchers an opportunity to hear perspectives from individuals with LGMD on the health effects, daily impacts, treatment goals, and decision factors considered when seeking out treatment. Learn more.

          ECD GLOBAL ALLIANCE
          The ECD Global Alliance is soliciting Letters of Intent for funding research projects focused on Erdheim-Chester disease patient-centered research. Two one-time grants of up to $200,000 per project will be awarded to two qualified investigators. Qualified researchers should submit proposals no later than Monday, October 10. Learn more.

          FOUNDATION FOR SARCOIDOSIS RESEARCH (FSR)
          Over the past year, FSR has made incredible progress in sarcoidosis research and patient support initiatives! FSR has now invested over $6 million in sarcoidosis specific research, reached more people than ever impacted by sarcoidosis, and led efforts to engage with the FDA and NIH in support of more research and better treatments for sarcoidosis. Read more about the great progress made over the past year in the newly released Spotlighting Sarcoidosis to #MakeItVisible 2022 Update! Learn more.

          FRIEDRIECH’S ATAXIA RESEARCH ALLIANCE (FARA)
          The fourth annual United Against Ataxia Hill Day to help raise awareness of ataxia and learn what necessary legislative action should be taken, will take place on Wednesday, September 21. Learn more.

          HCU NETWORK AMERICA
          Join HCU Network America for the webinar on Classical Homocystinuria (HCU): A Journey to Improve Outcomes Through Newborn Screening Methodology on Thursday, September 8. The webinar will discuss the current newborn screening landscape for classical HCU, the impacts of delayed diagnosis on patients, recommended actions to improve newborn diagnosis rates, and how we can work together to support improved outcomes. Learn more.

          HYPOPARATHYROIDISM ASSOCIATION
          Visit HypoPARAthyroidism Association’s Voter’s Voice page where they’ve listed members of the Rare Disease Caucus. Reach out to these US Representatives and Senators to advocate for new treatment options for hypoparathyroidism and raise your voice! Learn more.

          Explore HypoPARAthyroidism Association’s advocacy and education page featuring videos and educational pamphlets! Get to know the facts about hypoparathyroidism and the patients it impacts. Learn more.

          INTERNATIONAL PEMPHIGUS AND PEMPHIGOID FOUNDATION (IPPF)
          Connect virtually on Wednesday, September 14 at the IPPF tri-state New York area virtual support group meeting with other pemphigus and pemphigoid patients and caregivers! 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. You are not alone! Learn more.

          JAMAL'S HELPING HANDS
          Don't miss this exciting event: "Building A Bridge of Trust For Communities Of Color With Rare Disease By Focusing On Awareness, Access, and Advocacy" on Thursday, September 15! The featured panel of talented experts provide guidance, education, and assistance to underserved and underrepresented rare disease patient communities regarding diagnostic testing, advocacy, and the importance of participating in clinical trials and research. Learn more.

          MAST CELL DISEASE SOCIETY
          The Mast Cell Disease Society’s Patient & Provider Symposium on October 15-16 will bring together an international group of patients, well-renowned physicians, and investigators to discuss the opportunities, challenges, and progress made in research and serving patients affected by mast cell disease. Interactive panel discussions and wellness and support sessions for patients and caregivers will also take place. Learn more.

          NATIONAL LEIOMYOSARCOMA FOUNDATION (NLMSF)
          NLMSF has three featured initiatives:
          • The ABC's of a New Sarcoma Diagnosis
          • Caregiving Counts: A guide for the new and changing role of cancer patient (and family) caregiving
          • Clinical Trial Patient Perspective Forum: An event for patients to share their experience with clinical trials and what recommendations they have in terms of trial design and communication

          NLSMF is a member of the Sarcoma Coalition consisting of 30 organizations of sarcoma subtypes that work together to positively impact patient care and treatment.
          Learn more.

          SIEGEL RARE NEUROIMMUNE ASSOCIATION (SRNA)
          Krissy Dilger of SRNA hosted an Ask the Expert podcast on “Immunology of Rare Neuroimmune Disorders: Part 2” with experts Drs. Alex Simpson and Paula Barreras. The experts provided information on how the immune system interacts with the neurological system to cause rare neuroimmune disorders. Learn more.

          SRNA is hosting a three-day hybrid Rare Neuroimmune Disorders Symposium (RNDS) on October 7-9 for those with acute disseminated encephalomyelitis (ADEM), acute flaccid myelitis (AFM), and other rare neuroimmune disorders. RNDS brings individuals diagnosed with rare neuroimmune disorders, clinicians, and researchers together. An online pre-RNDS will be hosted on Friday, September 9, to dive deeper into rare neuroimmune disorder topics and start meeting other symposium attendees. Learn more.

          TATTON BROWN RAHMAN SYNDROME (TBRS) COMMUNITY
          The 2022 TBRS Collaborative Research Network Conference on Tuesday, September 20 is a virtual event that will feature presentations by scientists and clinicians who are experts on TBRS, DNMT3A (the gene that causes TBRS), epigenetics, overgrowth, neurodevelopmental disorders, and related topics. The goals of the meeting are to foster discussion among the group of scholars and develop research priorities for understanding and treating TBRS. Learn more.

          UPLIFTING ATHLETES
          Uplifting Athletes is excited to announce that the 2023 Young Investigator Grants Request for Applications (RFA) is now open through Friday, October 14! Young Investigator Grants fund collaborative basic research in order to positively impact treatments and potential cures for the entire rare disease community. Learn more.
          Other News

          MPS II ADDED TO RUSP
          The Department of Health and Human Services accepted the recommendation by the Advisory Committee on Heritable Disorders in Newborns and Children to add mucopolysaccharidosis type II (MPS II) to the Recommended Uniform Screening Panel (RUSP). More.

           
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          NORD, a 501(c)(3) organization, is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. NORD, along with its more than 330 patient organization members, is committed to the identification, treatment and cure of rare disorders through programs of education, advocacy, research and patient services. rarediseases.org
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