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RARE DISEASE DAY WAS A SUCCESS!
With your participation and support, Rare Disease Day and NORD's #ShowYourStripes campaign was a success!
- Nearly 2,000 people joined our live community event and shared their connection to rare disease.
- Buildings, monuments and landmarks across the US and around the world were lit up in Rare Disease Day colors.
- Thousands of conversations occurred online with individuals sharing their rare experiences, rare disease facts, and support for our community.
A full recap of Rare Disease Day will be coming out later this week!
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DID YOU HEAR? NORD HAS AN UPDATED LEARNING PLATFORM FOR NONPROFITS
Have you heard NORD recently launched updated courses and educational resources through our RareLaunch program? We continue to create and share new resources and videos through this accessible, self-guided platform. If you are new to research or have new staff at your organization, these courses are a great way to learn the basics around
nonprofit governance and rare disease research!
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REGISTER FOR AN EXTERNALLY-LED PATIENT FOCUSED DRUG DEVELOPMENT MEETING ON POST-TRANSPLANT LYMPHOPROLIFERATIVE DISORDER (PTLD)
NORD is excited to once again host an externally-led Patient-Focused Drug Development (EL-PFDD) meeting to provide an opportunity for patients, their families and caregivers to share critical information about the impact of their disease on their daily lives and their experiences with currently available treatments directly to FDA and other
important drug developer decisionmakers.
The upcoming PFDD is focused on Post-Transplant Lymphoproliferative Disorder (PTLD) and will take place on Wednesday, May 4 at 12:30pm ET. Patients’ experiences provide valuable insight for FDA and other key stakeholders, including researchers, medical product developers, and health care providers.
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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.
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Continuing Medical Education Sessions
NORD and PlatformQ Health are pleased to bring you accredited, accessible, digital rare disease courses.
Available sessions are appropriate for both patients and providers.
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NORD Running for Rare
NORD’s signature charity running program allows runners to join together with community partners to raise awareness for rare diseases.
Interested in becoming a runner? Apply for a spot today.
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Advocacy and Policy News
TAKE ACTION
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NORD Endorses Legislation to Extend Critical Telehealth Access
On Friday, February 11, NORD endorsed recently introduced legislation, S. 3593, “The Telehealth Extension and Evaluation Act.”
This legislation will:
- Extend current telehealth flexibilities, which have ensured safe and consistent access to health care for many rare disease patients throughout the pandemic.
- Charge the government with collecting important data about telehealth to inform future, permanent improvements.
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Reach out to your senators and representatives to ask that S. 3593 be
included in the omnibus funding bill currently being developed.
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Resources for the Community
THREE RARE DISEASE REPORTS UPDATED
Over the last month, NORD's Educational Initiatives team updated three rare disease reports in the Rare Disease
Database® and posted new reports on Liddle syndrome and myoclonic atonic epilepsy.
US FOOD AND DRUG ADMINISTRATION (FDA) PUBLIC WEBINAR
The FDA’s Center for Biologics Evaluation and Research (CBER) Office of Tissues and Advanced Therapies (OTAT) is hosting a public webinar on Wednesday, March 9. The webinar, The Critical Role of Patients in Advancing Gene Therapy Treatments for Rare Diseases, will bring together patients, caregivers, advocates, and other important stakeholders to celebrate and
recognize the contributions that patients with rare diseases have made to advancements in regenerative medicine. More.
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| THE GLOBAL PAROXYSMAL NOCTURNAL HEMOGLOBINURIA (PNH) PATIENT REGISTRY
Make a mark on the future of PNH research by enrolling in the Global PNH Patient Registry! Participation can be done at your own pace and is open to anyone with a PNH diagnosis.
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ADULT-ONSET LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS AND PIGMENTED GLIA (ALSP) Vigil Neuroscience, Inc. is sponsoring a natural history study in ALSP. Data will be collected to contribute to the development of future novel therapies that focus on the neuropathophysiological features that underlie ALSP and that are essential to reverse, delay, or stop progression of this debilitating disorder. More.
BATTEN DISEASE
Neurogene, Inc. is sponsoring a phase 1/2 interventional, prospective, non-randomized, first in human (FIH), open-label study of a single dose administration of gene therapy in children who are three to eight years old with neuronal ceroid lipofuscinosis (Batten) subtype
5 (CLN5) disease. Efficacy assessments in this study will evaluate motor, language, visual and cognitive function and each participant will be followed for safety and efficacy for five years after treatment. More.
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (FOP)
Incyte Corporation is sponsoring an interventional, randomized, double-blind, placebo-controlled, phase 2 trial to evaluate the safety,
efficacy, tolerability and pharmacokinetics of INCB000928 in patients with FOP. More.
SICKLE CELL DISEASE (SCD)
Seton Hall University is conducting a study to help understand how a mobile health technology app can assist adolescents and young adults with SCD with their transition to adult care and help them manage the disease as adults. Individuals with SCD age 18-30 are invited to participate in a short anonymous survey. More.
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RDCA-DAP News- The Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP) team is working with Mito Action for the receipt of digital app data, a first as we continue to accept different data types into RDCA-DAP.
- The first RDCA-DAP webinar for the 2022 Professional Series will be held on Wednesday, March 16 at 12pm ET: AI-powered Real-world Simulations for Faster and Value-based Rare Disease Drug Development. Register.
- We are happy to announce that Megan Cala Pane, PhD has joined the RDCA-DAP team as a Quantitative Scientific Director. Megan was previously supporting RDCA-DAP as a postdoctoral fellow on the Quantitative Medicine team working primarily in the Friedreich's ataxia space. She's excited to have the opportunity join the RDCA-DAP team in a more formal capacity to drive quantitative solutions in rare disease.
- Members of the RDCA-DAP team will be at upcoming conferences in March, including the 2022 MDA Clinical & Scientific Conference and DIA Europe 2022.
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Member News
AMYLOIDOSIS RESEARCH CONSORTIUM (ARC)
ARC is seeking a Director of Development for grants and major gifts to lead a three person development team, and drive a strategy that builds
relationships, which generate funding from diversified sources. More.
FACES: THE NATIONAL CRANIOFACIAL ASSOCIATION
FACES Camp registration is open for the July 2022 session! FACES Camp is a traditional week-long overnight summer camp for boys and girls with
craniofacial differences aged 6-17. The program features "Bring a Buddy to Camp" where siblings or best friends can experience camp together while meeting kids with similar medical issues. Located on 170 woodland acres on Lookout Mountain, GA, the program offers outdoor adventure, noncompetitive sports, campfires, crafts, and skit and talent night. Tuition and travel scholarships are available. More.
FAMILIESCN2A FOUNDATION
FamilieSCN2A Foundation hopes to accelerate the development of therapeutic treatments and disease-modifying advancements for those living with
changes in the SCN2A gene through their investigator-initiated grant program. The SCN2A Action Potential Grant for researchers grant cycle is currently open. More.
GUTHY-JACKSON CHARITABLE FOUNDATION
Join the Guthy-Jackson Charitable Foundation for the Virtual International NMO Patient Day on Sunday, March 13. More.
INTERNATIONAL FOUNDATION FOR GASTROINTESTINAL DISORDERS (IFFGD)
In collaboration with Northwestern University Feinberg School of Medicine, IFFGD will be hosting an in-person Norton Education Series (NES):
Irritable Bowel Syndrome Edition on Saturday, April 23 at Renaissance Chicago Glenview Suites Hotel. More.
INTERNATIONAL PEMPHIGUS AND PEMPHIGOID FOUNDATION (IPPF)
Connect virtually with other patients and caregivers across the country in IPPF’s virtual support group meetings. 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.
- Rocky Mountain Colorado Area Support Group Meeting on Sunday, March 6. More.
- South Florida Support Group Meeting on Sunday, March 13. More.
INTERNATIONAL RETT SYNDROME FOUNDATION (IRSF)
IRSF is seeking a motivated Research Program Manager to support and enhance the basic and translational science program of IRSF and advance
treatments and cures for Rett syndrome. More.
PARENTS AND RESEARCHERS INTERESTED IN SMITH-MAGENIS SYNDROME (PRISMS)
The PRISMS 11th International Conference will be taking place on Thursday, August 4 through Saturday, August 6 in Dallas, Texas. The
International Conference is PRISMS’ premier event, providing information about Smith-Magenis syndrome to patients, families, and professionals. More.
NATIONAL ADRENAL DISEASES FOUNDATION (NADF)
Those who are newly diagnosed with adrenal insufficiency will find valuable information with important links to help begin their journey on the
"Newly Diagnosed - Adrenal Insufficiency" resource page. You can explore first steps for the adrenal insufficient patient, NADF introduction and membership, MyAI study, and doctor visits after diagnosis. More.
SICKLE CELL DISEASE ASSOCIATION OF AMERICA (SCDAA)
SCDAA will offer a virtual sickle cell disease community health worker training starting on Monday, March 14. The training consists of virtual
lectures, 40 hours of field experience, online in-class assignments, homework, and a final exam and will cover the core competencies of community health workers with an additional concentration in sickle cell disease. More.
SIEGEL RARE NEUROIMMUNE ASSOCIATION (SRNA)
GG deFiebre, PhD of SRNA was joined by Drs. Geoffrey Eubank and Michael Levy for an Ask the Expert podcast on “Avoiding a Misdiagnosis:
Understanding the Differences between MOGAD, MS, and NMOSD.” The experts discussed MOG antibody disease, multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), and current research being conducted. More.
GG deFiebre, PhD of SRNA was joined by Drs. Jonathan Galli, Michael Sweeney, and Justin Abbatemarco for an Ask the Expert: Research Edition
podcast on the “Study of Transverse Myelitis (TM) in Veterans Health Administration Records.” The experts explain their research and what it means for those with TM, the future of diagnosing and treating TM, and ways in which physicians and medical experts can be educated on TM. 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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