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Director's Message

Feb. 25, 2015: Rare Diseases Research Illuminates a Path to Precision Medicine

Christopher P. Austin, M.D.

On January 30, I attended a White House event where President Obama announced plans for an ambitious new Precision Medicine Initiative. This exciting effort aims to build on recent successes in developing treatments for certain cancers and other conditions, including rare diseases, based on genetic information. The study of rare disorders has frequently led to new approaches to diagnosis, prevention and treatment that are applicable to more common diseases, and I expect that the Precision Medicine Initiative will be no different.

Balancing excitement about these developments are the daunting challenges that remain for the estimated 25 million Americans and their families living with rare diseases. Although there are several thousand known rare diseases, only about 500 have an approved treatment. These disorders often are severe and difficult to diagnose, creating a substantial unmet medical need and consuming a disproportionate share of health care spending. It can be difficult for biopharmaceutical companies to justify the costs of developing treatments for poorly understood disorders affecting small, geographically dispersed populations, so most rare diseases remain understudied.

NCATS is pursuing innovative approaches to address these obstacles in its Therapeutics for Rare and Neglected Diseases (TRND) and Bridging Interventional Development Gaps (BrIDGs) programs. Drug development experts at TRND and BrIDGs collaborate with outside researchers to advance the development of new therapeutics through scientific and technological innovations that improve drug development efficiency. These efforts “de-risk” therapeutic candidates and thus make them more attractive for adoption by biopharmaceutical companies.

TRND and BrIDGs have achieved remarkable successes in individual diseases, including sickle cell disease and Niemann-Pick disease type C1. But NCATS’ mission to improve the efficiency of the translational process depends on rigorous measurement of aggregate outcomes and comparison with benchmarks. To assess whether TRND and BrIDGs are indeed increasing overall translational efficiency, NCATS teamed up with researchers at the Massachusetts Institute of Technology (MIT), and their analysis was published online in Science Translational Medicine today. The results are impressive, and they validate the NCATS innovation model in unprecedented ways.

The MIT-NCATS team studied productivity data from nearly 30 TRND and BrIDGs rare diseases projects, then compared their success rates, costs and time to completion with published industry averages. The results show that TRND and BrIDGs projects have significantly lower costs and higher success rates, although somewhat longer pre-clinical timelines, than current industry averages. This is extraordinarily exciting because it demonstrates that focusing on scientific and operational innovation can make the translational process much more efficient, giving hope to the millions of rare disease patients waiting for translation to reach them.

This advance is particularly timely in light of the eighth annual Rare Disease Day at NIH on February 27, co-sponsored by NCATS and the NIH Clinical Center. This day-long event is an opportunity for researchers, patients and patient advocates, health care providers, industry representatives, and others to hear about and celebrate progress made in rare diseases research. Planned activities include talks, posters and exhibits, and Clinical Center tours.

As we move closer to the precision medicine vision of individualized data matching patients to therapies, rare diseases research will continue to lead the way, developing innovative evidence-based models for more efficient translation.

Christopher P. Austin, M.D.
National Center for Advancing Translational Sciences

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