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February 17, 2022: Rare Diseases Have a Home at NCATS

Rare Disease Day at NIH is right around the corner. Have you registered? It promises to be the best conference you attend all year. Although NCATS focuses on rare diseases every day, this day-long virtual event on Feb. 28 has it all — personal stories, the latest research, interactive panel discussions, and more.

If rare diseases are rare, why are they a big deal? It’s because rare diseases are not rare! In the United States, more than 7,000 rare diseases affect about 30 million people with annual medical costs around $400 billion. This cost rises to more than $1 trillion when you include non-medical costs, such as missed days at work, and even that figure does not capture the suffering and loss caused by rare diseases. These truly staggering numbers make rare diseases a pressing public health issue, and they’re why rare diseases are central to the NCATS vision of delivering more treatments for all people more quickly.

I highlight two key areas where we need to move the needle.

Shortening the Diagnostic Odyssey

Getting an accurate diagnosis — early, easily, and expeditiously — is a critical step in providing the best possible care for all people with rare diseases. But, for rare diseases, this journey takes an average of 7 years. It can include unnecessary tests, procedures, and health care visits, leading to misdiagnoses; delayed or missed treatments; and untold emotional, economic, and health burden. NCATS aims to shorten the duration of the diagnostic odyssey by more than half.

Most frontline health care providers don’t have prior experience with an individual rare disease, and the scarcity of specialists and genetic counselors further contributes to delayed appointments and lack of access to care, especially for medically underserved communities. Three NCATS-supported teams are tackling this challenge by developing diagnostic tools that can be easily used early in patient care. The tools will leverage machine learning, genomic analysis, and clinical evaluation. I encourage you to read more about this effort.

For those recently diagnosed or looking for answers, NCATS offers a number of go-to resources. The Genetic and Rare Diseases Information Center, for instance, has information on more than 6,000 rare diseases. It is visited by 16 million people each year, and its information specialists answer thousands of individual questions about treatments, clinical trials, and organizations that can help.

More Than One Disease at a Time

Because rare diseases are not rare, their treatments shouldn’t be either, but research on each separately is difficult, expensive, and slow. An NCATS-led analysis found that orphan-designated drugs for rare diseases spent, on average, 552 more days in clinical development than a typical drug. At a one-disease-at-a-time pace, it will take thousands of years to tackle all rare diseases. That’s not good enough.

To increase the number of new treatments quickly, we need therapeutic approaches that work for multiple diseases. NCATS’ preclinical efforts include finding and developing already-approved drugs that could treat additional diseases. For example, one of our collaborative Therapeutics for Rare and Neglected Diseases projects has led to a Phase 1 clinical trial testing of a drug approved abroad for Parkinson’s disease as a treatment for two highly related rare blood disorders: beta-thalassemia and sickle cell disease. Likewise, through the PaVe-GT program, we’re testing whether it’s feasible to use the same gene therapy delivery system and manufacturing methods in multiple rare disease gene therapy trials.

Some of our other efforts are built upon the fact that 80–85% of rare diseases are genetic. We now know that different rare diseases can share a common genetic mechanism of dysfunction, and we can use that knowledge to develop genetic and molecular interventions that can correct the shared underlying mechanism for a group of diseases. Research supported in part by the Somatic Cell Genome Editing program developed a gene editing method that could, in principle, correct up to 89% of known genetic variants associated with human diseases! Gene therapy is another promising treatment approach for many rare diseases, and the new Bespoke Gene Therapy Consortium is working to optimize and streamline their development.

Because many rare diseases share common characteristics or etiologies, clinical trials can be designed with enrollment criteria structured around what is common. Cancer researchers used this so-called basket trial design to test a single therapy on multiple diseases, which led to U.S. Food and Drug Administration (FDA) approval. We are adapting this approach with some of the rare diseases studied by the NCATS-coordinated Rare Diseases Clinical Research Network.

Whether the challenge is speeding the diagnosis of rare diseases, identifying promising therapeutics, or enabling innovative clinical research, NCATS has a home for that. We will build on our strong history of collaboration and forge new partnerships with patient groups, rare disease researchers, and biotech companies. We will also continue our collaborations with the FDA on streamlining regulatory aspects.

We have an opportunity to change the rare disease landscape forever. Together, we can bring more treatments for rare diseases more quickly.

I hope to see you at Rare Disease Day at NIH!

Your partner in science and health,

Joni L. Rutter, Ph.D.
Acting Director
National Center for Advancing Translational Sciences

Last updated on October 12, 2023