New research opportunities, Rare Disease Reports, and more!
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Graphic with the photo of a zebra's side and the text "Monthly Newsletter"
 
 
FEATURED NEWS
 
The NORD Breakthrough Summit is NEXT MONTH!
There’s 39 days and counting until NORD's 2023 Rare Diseases and Orphan Products Breakthrough Summit in Washington, DC, October 16-17!

Register today to be among those who will benefit from NORD’s full agenda which includes insightful and provocative discussions with global rare disease advocates, industry leaders, regulatory agencies, researchers, patient advocacy organizations and more. Don’t miss out on featured speakers including FDA experts Peter Marks, MD, PhD, Director, Center for Biologics Evaluation and Research (CBER), Patrizia Cavazzoni, MD, Director, Center for Drug Evaluation & Research (CDER), and Jeff Shuren MD, JD, Director, Center for Devices & Radiological Health.

Hotel accommodations are available at the Marriott Marquis in Washington, DC.
NORD Announces More Than $100,000 in Grant Funding for Rare Disease Research!
We’re excited to announce that NORD is now accepting applications for three new grant funding opportunities for three different rare diseases. The deadline for each grant is October 16, 2023. These grants are made possible with funding support from private donors and Foundations and are as follows:

1) With funding from the Tyler James Abizeid Foundation, NORD is accepting applications for one grant of up to $35,000 US, for scientific and/or clinical research studies related to Arteriovenous Malformation (AVM).
2) With funding by the Maxwell Family, NORD is accepting applications for one grant of up to $40,000 US, for scientific and/or clinical research studies related to Levy-Yeboa Syndrome (LYS).
3) With funding from the MMIHS Foundation, NORD is accepting applications for one grant of $30,000 US for scientific and/or clinical research studies related to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS).


NORD’s Research Grants Program provides seed-money grants to qualified investigators for scientific and clinical research into diseases for which there are few other sources of funding. These grants are competitive and international. Grants will be awarded to qualified researchers to initiate small scientific research studies or clinical trials, the results of which could be used to obtain funding from the NIH, FDA, or other funding agencies, or to attract a corporate sponsor.

NORD's Policy Team Attends State Legislatures Annual Summit
In August, members of NORD's policy team headed to Indianapolis, Indiana for the annual Summit of the National Conference of State Legislatures (NCSL). The team had the opportunity to highlight the most important policy initiatives facing the rare disease community and engaged with attending federal, state and local government agencies, biopharmaceutical companies, trade associations, and special interest groups.
From left to right: Supraja Sowmiyanarayanan (Program Assistant), Lindsey Viscarra (State Policy Manager – West) , Carolyn Sheridan (State Policy Manager – East), Allison Herrity (Policy Analyst) at the National Conference of State Legislatures Annual Summit.
National Taskforce Meeting: September 12, 2023
Join us for our next National Policy and Advocacy Taskforce meeting via Zoom at 4:00pm EST on September 12, 2023! The Taskforce provides an opportunity for individuals interested in rare disease policy to become more involved with grassroots advocacy. September’s meeting will provide updates on NORD’s federal policy work, including implementation of the Inflation Reduction Act and Medicaid unwinding! Register to join here.
Upcoming Medicaid Webinar: September 14, 2023
Millions of rare disease patients are at risk of losing Medicaid coverage solely for administrative reasons without knowing they have lost coverage. According to the KFF, as of August 8, nearly 4 million enrollees have lost coverage since disenrollment began in April 2023. On Thursday, September 14, NORD will host a webinar to share information and resources to help rare disease patients successfully navigate nationwide changes to Medicaid coverage, also known as “Medicaid unwinding.” Sign up here for NORD’s webinar to understand how changes to the Medicaid program could impact you!
Medicare & Medicaid Listening Sessions: October 30 - November 15
On August 29 as a part of the Medicare Drug Price Negotiation Program under the Inflation Reduction Act, Centers for Medicare & Medicaid Services (CMS) announced the 10 products that will be subject to price negotiation beginning January 1, 2026.

As part of the negotiation process, CMS announced a series of patient listening sessions on each of the products selected for negotiation that will be held October 30 – November 15, 2023. This is an important opportunity for patients that utilize these selected therapies to make their voices heard about the benefit of these selected drugs.

The products selected for the first round of negotiation are:
  • Eliquis
  • Jardiance
  • Xarelto
  • Januvia
  • Farxiga
  • Entresto
  • Enbrel
  • Imbruvica
  • Stelara
  • Fiasp; Fiasp FlexTouch; Fiasp PenFill; NovoLog; NovoLog FlexPen; NovoLog PenFill
The schedule for the listening sessions can be found here and you can register to make a public comment at the listening sessions here.
FDA News
Recent Drug Approvals
Palovarotene (Sohonos) has been approved as the first treatment for fibrodysplasia ossificans progressiva (FOP) to reduce extra-skeletal bone formation in adults and children aged 8 years and older for females, and 10 years and older for males. Sohonos is manufactured by Ipsen Biopharmaceuticals, Inc. Read the press release.
Rare Disease Report - Updates
NORD's comprehensive Rare Disease Database® offers vital information on more than 1,300 rare diseases including their symptoms, causes, treatments, clinical trials, and sources of help such as patient advocacy organizations. NORD's Rare Disease Database is a leading source utilized by patients, physicians, researchers, and regulators to understand and treat rare disorders.

Check Out New Reports

NORD's Educational Initiatives team updated 36 reports and added new reports on Okur-Chung Neurodevelopmental Syndrome and WDR26-Related Disorder in the Rare Disease Database®.
The Global Paroxysmal Nocturnal Hemoglobinuria (PNH) Patient Registry
Recently diagnosed with paroxysmal nocturnal hemoglobinuria (PNH)? Enroll in the Global PNH Patient Registry and share your experience. Data collected will enhance our understanding of PNH and grow our knowledge about diagnostic and treatment options. Learn More.
Hypoparathyroidism
Amolyt Pharma is sponsoring a phase 3, multicenter, randomized, placebo-controlled, double-blind study to evaluate the safety and efficacy of eneboparatide, a parathyroid hormone receptor agonist, in treating patients with chronic hypoparathyroidism. More.
RARE DISEASE FACTS
Hypoparathyroidism is a rare condition in which the parathyroid glands fail to produce sufficient amounts of parathyroid hormone or the parathyroid hormone produced lacks biologic activity. The parathyroid glands are part of the endocrine system, the network of glands that secrete hormones into the bloodstream where they travel to various areas of the body.
Lymphoma
Ono Pharmaceutical Co. Ltd is sponsoring a non-randomized, open-label, phase 2 study to evaluate the safety, efficacy, and pharmacokinetics of tirabrutinib in patients with primary central nervous system lymphoma (PCNSL). More.
RARE DISEASE FACTS
Primary central nervous system lymphoma is a type of cancer originating from immune cells known as lymphocytes (lymphoma) that develops in the brain and/or spinal cord (central nervous system; CNS). Around 1,500 patients are diagnosed each year in the United States.
Polycythemia Vera (PV)
Protagonist Therapeutics, Inc. is sponsoring a randomized, double-blind, open-label, phase 3 study to evaluate the safety and efficacy of rusfertide in patients with PV in maintaining hematocrit control and in improving symptoms. More.
RARE DISEASE FACTS
Polycythemia vera (PV) is a rare, chronic disorder involving the overproduction of blood cells in the bone marrow (myeloproliferation). The overproduction of red blood cells is most dramatic, but the production of white blood cells and platelets are also elevated in most cases. Since red blood cells are overproduced in the marrow, this leads to abnormally high numbers of circulating red blood cells (red blood mass) within the blood.
Thyroid Eye Disease (TED)
Sling Therapeutics, Inc. is sponsoring phase 2b, randomized, double-mask, placebo-controlled study to evaluate the safety,  efficacy, and pharmacokinetics of linsitinib in patients with active, moderate to severe TED. More.
RARE DISEASE FACTS
Thyroid eye disease is a rare disease characterized by progressive inflammation and damage to tissues around the eyes, especially extraocular muscle, connective, and fatty tissue. Thyroid eye disease is characterized by an active disease phase in which progressive inflammation, swelling, and tissue changes occur.
Proliferative Lupus Nephritis (LN) and Immunoglobulin A Nephropathy (IgAN)
Alexion Pharmaceuticals, Inc. is sponsoring a phase 2, double-blind, randomized, placebo-controlled study to evaluate the efficacy and safety of Ravulizumab in adult participants with proliferative lupus nephritis (LN) or immunoglobulin A nephropathy (IgAN). More.
Alexion Pharmaceuticals, Inc. is sponsoring a phase 2, randomized, double-blind, placebo-controlled, dose-finding study to evaluate the efficacy and safety of ALXN2050 in adult participants with proliferative lupus nephritis (LN) or immunoglobulin A nephropathy (IgAN). More.
Rare Diseases Cures Accelerator -
Data & Analytics Platform News
See How RDCA-DAP Can Support Your Work
Drug development is extremely challenging for rare diseases because of small patient populations, which contributes to limited understanding of how these diseases can manifest and progress. One way NORD and our partners are overcoming this is through the Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP®).

The RDCA-DAP® brings together the experiences of patients and the clinical data of researchers to improve the medical community's understanding of rare diseases and accelerate clinical drug development.
NORD partners with the Critical Path Institute on the RDCA-DAP® initiative by helping patient groups contribute their IAMRARE® patient registry data and by educating the rare community about the important role of data sharing in rare disease research and treatment development.

You can learn more and access the platform itself below, and address any questions to rdcadap@cpath.org.

On-Demand Webinar - Patients and Caregivers
Are you interested in learning about basic adult learning theories and approaches to create content and presentations that appeal to the largest audience of adult learners? Check out the Teaching Patients and Caregivers: The Role of Education in Research and Data Sharing” webinar on demand now!
IAMRARE Registry is Accepting Applications
NORD announces a request for applications for the implementation of up to two new patient registries on the IAMRARE® platform, with funding made available through RDCA-DAP. Successful applicants will actively work with NORD, beginning in January 2024, to create and launch a patient registry with no implementation costs charged to the sponsoring organization. Full details and a link to the application are available here.
Join Us In Washington, DC and New York City
Cheer Section Members Wanted!

We invite you to join us in cheering on the 2023 NORD Running for Rare teams at the upcoming Marine Corp Marathon on October 29 and the TCS New York City Marathon on November 5! Cheer section members are welcome to come and go as they see fit, with no fundraising requirements necessary. We look forward to cheering on our incredible runners, and invite all rare disease community members and supporters to cheer with us.
Attend the Charcot-Marie-Tooth Association (CMTA) Patient & Research Summit
The 2023 CMT Patient & Research Summit on Saturday, November 4 in Boston, Massachusetts will offer life-improving presentations on living well with Charot-Marie-Tooth Disease (CMT) and will provide a comprehensive update on current STAR research.  Spend the day learning how to manage CMT and hear how you can be involved in advancing CMT research through clinical trials and studies. Learn more here.
RARE DISEASE FACTS
Charot-Marie-Tooth Disease (CMT) is a group of genetic disorders that cause nerve damage, also called hereditary motor and sensory neuropathy. There are over 100 genes known to be responsible for various forms of CMT. Symptoms usually start in the feet and legs, appearing in adolescence or early adulthood.
The National Hemophilia Foundation Has a New Name!
After 75 years, the National Hemophilia Foundation is now officially known as the National Bleeding Disorders Foundation. This new name will allow them to harness their networks and resources to help those facing an even wider array of blood and bleeding disorders. Learn more.
Explore the New Uplifting Athletes Researcher Travel Program and Young Investigator Draft
Uplifting Athletes is proud to announce a new program intended to assist with travel expenses for rare disease researchers and professional students: the Uplifting Athletes Researcher Travel Program. This program provides opportunities for these individuals to connect in-person with the rare disease community, fostering collaboration and ongoing communication.Learn more.

On August 1st, Uplifting Athletes launched their Request for Applications for our 2024 Young Investigator Draft grants. They will be awarding $20,000 grants to researchers who are selected through the nomination process. The application deadline is October 6. Learn more.
Join a Pemphigus and Pemphigoid Virtual Support Group Meeting in Northern CA
Connect virtually with other patients and caregivers in the Northern California area on September 12 at the IPPF Virtual Support Group Meeting. Living with pemphigus or pemphigoid is hard enough, but when you feel alone it seems even harder. You are not alone! Learn more.
The National Adrenal Diseases Foundation (NADF) Shares a Leadership Announcement
Acknowledging that both the Executive Director and Board President roles are pivotal to the success, growth, and future of NADF, they are pleased to share an exciting change in their leadership. Learn more.
Join the Platelet Disorder Support Association (PDSA) for ITP Awareness Month
September is Immune thrombocytopenia (ITP) Awareness Month and PDSA hopes you will join us in honoring the network of patients, caregivers, clinicians, and industry partners working together to improve outcomes for those living with ITP. Join Sport Purple for Platelets with PDSA on Friday, September 29th, as they will wrap up their ITP Awareness Month activities with Sport Purple for Platelets Day! Learn more.
Join the Indo US Organization for Rare Diseases for their In-Person Conference
Join the Indo US Bridging RARE Summit 2023 with the theme of connecting the Indian diaspora with rare disease research and clinical trials globally from October 29-30, 2023. Learn more.
Shwachman-Diamond Syndrome Alliance Announces a Unique Diagnostic Code for Shwachman-Diamond Syndrome
Shwachman-Diamond Syndrome receives new ICD-10 Diagnostic Code, paving the way for improved patient care and new treatment options. Code D61.02 goes into effect October 2023. Learn more.
RARE DISEASE FACTS
Shwachman-Diamond syndrome (SDS) affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system. Symptoms include the inability to digest food due to missing digestive enzymes, low muscle tone, and anemia.
Join the Tatton Brown Rahman Syndrome (TBRS) Community Summit
The Tatton Brown Rahman Syndrome (TBRS) Community will be holding the 2023 TBRS Community Summit for the first time since 2019! This year they are combining their Family Conference and Collaborative Research Network (CRN) Conference into one Summit! The event will be held October 11-15, 2023 at Morgan’s Wonderland Camp in San Antonio, Texas. This is the first-ever fully accessible camp for people of all needs! For more information, to register, and/or to learn about sponsorships, click here.
Join the Narcolepsy Network for their 37th Annual Conference
Join the Narcolepsy Network for an immersive, two-and-a-half-day event at our 37th Annual Conference, which will take place September 29—October 1, 2023, in Denver, Colorado. Learn more.
PSC Partners Annual Patient and Caregiver Conference
The 2023 PSC Partners Annual Patient & Caregiver Conference will be taking place in Henderson, NV from September 8-10. The event will be packed with educational sessions presented by international primary sclerosing cholangitis (PSC) experts, supportive peer gatherings, and more! Learn more and register here.
RARE DISEASE FACTS
Primary sclerosing cholangitis (PSC) is a progressive disorder characterized by inflammation, thickening, and abnormal formation of fibrous tissue (aka fibrosis) within the bile ducts inside and outside the liver. This often results in the obstruction or interruption of bile flow from the liver (aka cholestasis). Our understanding of PSC is rapidly evolving, and some researchers believe it actually represents a group of disorders or a disorder with several distinct subtypes. It is likely that PSC may have different underlying causes in different individuals.
Explore Siegel Rare Neuroimmune Podcasts and an In-Person Symposium
Registration is now open for the 2023 Regional Rare Neuroimmune Disorders Symposium in Dallas, Texas. Hosted by SRNA and UT Southwestern Medical Center, this is a one-day regional educational and advocacy event on Saturday, October 7. This event is for those with acute disseminated encephalomyelitis (ADEM), acute flaccid myelitis (AFM), MOG antibody disease (MOGAD), neuromyelitis optica spectrum disorder (NMOSD), optic neuritis (ON), and transverse myelitis (TM), as well as their families, care partners, and medical professionals. Learn more.

Dr. Cyrena Gawuga returned to speak with Dr. GG deFiebre of SRNA for an “Ask the Expert” episode titled "Disability and Rare Neuroimmune Disorders Part 2: Accessibility and Disability Pride." Dr. Gawuga discussed accessibility, accommodations for employment and education, and inclusion in classrooms. She shared possible solutions for a lack of accommodations in health care settings and described the meaning of Disability Pride Month. Learn more.

In the episode of “ABCs of NMOSD” titled “Sexual Dysfunction and NMOSD,” Krissy Dilger of SRNA was joined by Dr. Philippines Cabahug. Dr. Cabahug defined the types of sexual dysfunction for people who have impairment in the spinal cord. Dr. Cabahug described physical rehabilitation that can improve sexual dysfunction and how to choose a health care provider to assist with evaluation. Learn more.

Krissy Dilger of SRNA and Peter Fontanez from The MOG Project were joined by Dr. Farrah Mateen for the second episode of “ADEM Academy,” an ongoing podcast series about ADEM or acute disseminated encephalomyelitis. This episode is titled “Adult ADEM.” Dr. Mateen discussed how adults typically present with ADEM, the diagnostic process, and how it differs in other stages of life. Learn more.

Attend VHL Alliance’s 30th Anniversary Gala
Please join the VHL Alliance Community to celebrate and support our 30th Anniversary!
They are celebrating making significant progress towards a cure for von Hippel Lindau.
Date: Friday, October 6, 2023, at 7 pm. Location: The Franklin Institute, Philadelphia. Learn more.

 
 

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NORD is a registered 501(c)(3) charity organization. Please note that NORD provides this information for the benefit of the rare disease community. NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Patients must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure or treatment of a condition or disorder.

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