NINDS Contributions to Rare Disease Research and Treatment

NINDS Contributions to Rare Disease Research and Treatment

When you think of a neurological disorder, it’s likely that a few of the more prevalent ones come to mind – Parkinson’s Disease, epilepsy, or stroke, for instance. These devastating diseases each affect millions of people, and we focus a large effort toward understanding and treating them. Equally critical are research programs that we dedicate to finding treatments for numerous rare diseases, which are defined as conditions affecting <200,000 Americans. An estimated ~7,000 known rare diseases lead to significant morbidity and mortality in 25 million Americans. Approximately one third of these are thought to include neurological components and symptoms, motivating NINDS efforts in rare disease research. Studying and developing treatments for these diseases also yields broader benefits. In some cases, understanding the mechanisms behind a rare disease can lead to insights that are applicable to more common diseases. In many ways, rare disease research fuels advances in precision medicine approaches and innovative targeted treatments. Progress to address hurdles to applying such methods in one rare disease can often translate to other conditions.

NINDS funds many scientists and clinicians who study rare neurological conditions, including two with ongoing Phase II clinical trials: Fragile X Syndrome (via The Network for Excellence in Neuroscience Clinical Trials, or NeuroNEXT) and tuberous sclerosis complex (via Preventing Epilepsy Using Vigabatrin In Infants With Tuberous Sclerosis Complex, or PREVeNT). Some brain disorders comprise individually rare syndromes. For example, NINDS also supports research on rare, genetic forms of epilepsy and developmental disorders involving autism or intellectual disability. Since February is Rare Disease Awareness Month, I want to highlight a few of the important research efforts and partnerships in which that NINDS takes part.

I have written previously about NINDS’s leading role in the Undiagnosed Disease Network (UDN), a research program supported by the NIH Common Fund. By bringing together clinical and research experts from across the country, the UDN applies a multidisciplinary model to evaluate the most challenging medical cases and to identify the biological characteristics of newly discovered diseases. First formed in 2014, the UDN consists of a network of seven clinical sites, two sequencing cores, and a coordinating center. Since then, they have added a central biorepository, a metabolomics core, and a model organisms screening center. This effort to help patients who remain without a diagnosis (often despite extended medical attention) has paid off: a recent paper in the New England Journal of Medicine found that broader resources enabling collaboration across sites allowed the UDN to establish a diagnosis in 35% of admitted patients with a complete evaluation. Underscoring the importance of the NINDS support of rare disease research, 40% of the applicants reported neurologic symptoms. The UDN expands upon and provides broader reach for the early successes of the Undiagnosed Disease Program (UDP), a clinical research initiative launched at NIH in 2008. The UDP continues today with four participating Institutes and Centers (ICs), including NINDS, which has seen over 9,000 inquiries since 2008.

NINDS is also a major supporter of the Rare Diseases Clinical Research Network (RDCRN), a trans-NIH partnership led by the National Center for Advancing Translational Sciences (NCATS) to advance medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment and data sharing. The RDCRN consists of 22 RDCRN rare diseases research groups (consortia) and a Data Management and Coordinating Center --NINDS is proud to support 8 of the 22 consortia. Through the network, researchers and their teams work together with nearly 100 patient organizations (patient advocacy groups) to study more than 190 rare diseases at clinical centers across the nation and worldwide.

On an international scale, NINDS participates in the International Rare Diseases Research Consortium (IRDiRC), which unites national and international governmental and non-profit funding bodies, companies (including pharmaceutical and biotech enterprises), umbrella patient advocacy organizations, and scientific researchers to promote international collaboration and advance rare diseases research worldwide. Coverage of the Consortium is global, involving stakeholders from five continents. In particular, NINDS has representation on the Therapies Scientific Committee (TSC), a multi-disciplinary, multi-stakeholder group of experts in medical research and drug development specialized in rare diseases, comprising representatives of academia, non-profit organizations, industry, regulators, patient experts, clinicians and research funders across the globe.

Rare Disease Day takes place at NIH (and worldwide) on February 28, 2019.  Each year, the NCATS and the NIH Clinical Center sponsor Rare Disease Day at NIH as part of this global observance. This year’s global theme is “bridging health and social care.” I invite you to take part in Rare Disease Day, at NIH or elsewhere.

Finally, many nonprofit organizations work tirelessly to raise awareness of rare and undiagnosed diseases. Every year, NINDS invites members of nonprofit organizations focused on neurological disorders to the Institute's Nonprofit Forum – Progress through Partnership. This year, the Forum will feature discussions on cell therapy, data collection and storage, gene therapy and gene editing, motivating next-generation researchers, and success stories, as well as opportunities to meet NINDS Program and Division Directors. I look forward to the event, which will bring together key stakeholders, as we work collaboratively to combat rare diseases.

Please also see a recent blog post from NIH Director Dr. Francis Collins on muscular dystrophy, a rare disease in the NINDS portfolio.

Rare Disease Day 2019 poster
Tuesday, February 26, 2019