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NIH Scientists Pursue New Therapies to Improve Rare Disease Drug Development

Published: Friday, September 13, 2013
Last Updated: Friday, September 13, 2013
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Projects selected for potential to treat specific rare diseases.

Four new pre-clinical drug development projects at the National Institutes of Health will target a form of blindness and diseases characterized by cardiac problems.

The projects were selected for their potential to treat specific rare diseases and to help scientists uncover new information that can be shared with other researchers.

The studies will be funded through the Therapeutics for Rare and Neglected Diseases (TRND) program at the NIH's National Center for Advancing Translational Sciences (NCATS).

This group of projects also marks the TRND program's first use of stem cells as well as its first collaboration with a large pharmaceutical company, Eli Lilly, to co-develop a treatment for a rare disease.

"TRND is grounded in partnerships with academic, government, pharmaceutical and patient advocacy groups. Working in collaboration, scientists conduct pre-clinical development of new drugs and then advance them to first-in-human clinical trials," said NCATS Director Christopher P. Austin, M.D. "Like all NCATS programs, TRND seeks to develop new technologies and more efficient paradigms for translation, in the context of important unmet medical needs."

Two projects employ therapeutic approaches to developing a treatment for retinitis pigmentosa, a severe form of hereditary blindness.

A third project focuses on a potential treatment for hypoparathyroidism, a hormone-deficiency syndrome that can lead to cardiac problems and convulsions.

The remaining project aims to develop a possible therapeutic that targets a cardiac disorder associated with LEOPARD syndrome, an extremely rare genetic disease that affects many areas of the body.

About 80 percent of patients with LEOPARD syndrome have a cardiac disorder called hypertrophic cardiomyopathy, which is a thickening of the heart muscle that forces the heart to work harder to pump blood, which can lead to early death.

A rare disease is one that affects fewer than 200,000 Americans. NIH estimates that, in total, there are more than 6,000 rare diseases. However, effective pharmacologic treatments exist for only about 200 of these illnesses.

Private companies often do not pursue new therapies for rare diseases due to the low anticipated return on investment. Through TRND, NCATS advances potential treatments for rare and neglected tropical diseases to first-in-human trials, an approach known as "de-risking."

This strategy can make possible new drugs more commercially viable and attractive to outside partners, who can invest in their further development and additional clinical trials. The new projects are:

Long-acting Parathyroid Hormone Analog for the Treatment of Hypoparathyroidism
Henry U. Bryant, Ph.D., distinguished research fellow Lilly Research Laboratories, Eli Lilly and Company, Indianapolis

Use of Rapamycin for the Treatment of Hypertrophic Cardiomyopathy in Patients With Leopard Syndrome
Maria I. Kontaridis, Ph.D., assistant professor of medicine Beth Israel Deaconess Medical Center, Boston

Use of Retinal Progenitor Cells for the Treatment of Retinitis Pigmentosa
Henry J. Klassen, M.D., Ph.D., director, Stem Cell and Retinal Regeneration Program University of California, Irvine School of Medicine

Small Molecule Pharmacological Chaperone for the Treatment of Retinitis Pigmentosa
William F. Brubaker, Ph.D., chief executive officer Bikam Pharmaceuticals, Inc., Cambridge, Mass.

The project descriptions are available at (

TRND partners do not receive grants. The collaborative project teams receive in-kind support and gain access to TRND researchers with rare disease drug development capabilities, expertise, and clinical and regulatory resources.

Each project has established data-driven milestones to track progress. TRND staff may choose to discontinue projects that do not achieve milestones in the established timeframe. This allows other more promising candidates to enter the program.

"We are particularly excited about this set of collaborative projects for its potential to produce treatments for underserved patient populations," said John C. McKew, Ph.D., acting director of NCATS Division of Pre-Clinical Innovation and director of the TRND program.

A number of early projects fostered by TRND have reached the stage where partners, such as pharmaceutical, biotechnology or disease groups, are being sought to move the treatments out of TRND and in the next phases of clinical development.

Through the program in the last two years, TRND researchers and collaborators have advanced four projects to human clinical trials, evaluating treatments for sickle cell disease, chronic lymphocytic leukemia, hereditary inclusion body myopathy and Niemann-Pick Type C.

TRND projects are applied for via a solicitation process, and NCATS currently is accepting applications until September 30, 2013.

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