Corporate Banner
Satellite Banner
Stem Cells, Cellular Therapy & Biobanking
Scientific Community
Become a Member | Sign in
Home>News>This Article

NIH Scientists Pursue New Therapies to Improve Rare Disease Drug Development

Published: Friday, September 13, 2013
Last Updated: Friday, September 13, 2013
Bookmark and Share
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.

Further Information
Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 2,800+ scientific posters on ePosters
  • More than 4,000+ scientific videos on LabTube
  • 35 community eNewsletters

Sign In

Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

Molecule Proves Key to Brain Repair After Stroke
Scientists found that a molecule known as growth and differentiation factor 10 (GDF10) plays a key role in repair mechanisms following stroke.
Tuesday, November 10, 2015
A Patient’s Budding Cortex — In A Dish?
Networking neurons thrive in 3-D human “organoid”
Friday, May 29, 2015
Drugs that Activate Brain Stem Cells May Reverse Multiple Sclerosis
NIH-funded study identifies over-the-counter compounds that may replace damaged cells.
Tuesday, April 21, 2015
Stem Cell Transplants May Halt Progression of Multiple Sclerosis
NIH-funded study yields encouraging early results.
Tuesday, December 30, 2014
Scientists Sniff Out Unexpected Role for Stem Cells in the Brain
NIH scientists find that restocking new cells in the brain’s center for smell maintains crucial circuitry.
Saturday, October 11, 2014
Suspect Gene Corrupts Neural Connections
“Diseases of synapses” demo’d in a dish - NIH-funded study.
Tuesday, August 19, 2014
Early Treatment Benefits Infants with Severe Combined Immunodeficiency
NIH-funded study identifies factors contributing to successful stem cell transplants.
Friday, August 01, 2014
Stem Cells Form Light-Sensitive 3-D Retinal Tissue
Researchers induced human stem cells to create a 3-D retina structure that responds to light. The finding may aid the study of eye diseases and could eventually lead to new therapies.
Tuesday, June 24, 2014
Stem Cell Therapy Rebuilds Heart Muscle in Primates
Human embryonic stem cells used to regenerate damaged primate hearts.
Tuesday, May 13, 2014
Too Much Protein May Kill Brain Cells As Parkinson’s Progresses
NIH-funded study on key Parkinson’s gene finds a possible new target for monitoring the disease.
Friday, April 11, 2014
NeuroBioBank Gives Researchers One-Stop Access to Post-Mortem Brains
The NIH is shifting from a limited funding role to coordinating a Web-based resource for sharing post-mortem brain tissue, a move which is expected to expedite research on brain disorders.
Tuesday, December 03, 2013
Gene-Silencing Study Finds New Targets for Parkinson’s Disease
NIH study sheds light on treatment of related disorders.
Monday, November 25, 2013
Epigenetic Clock Marks Age of Human Tissues and Cells
The age of many human tissues and cells is reflected in chemical changes to DNA. The finding provides insights for cancer, aging, and stem cell research.
Tuesday, November 05, 2013
Stem Cells Discovered in Deadly Parasitic Flatworms
The study was described in Nature on February 28, 2013.
Friday, March 15, 2013
New Type of Pluripotent Cell Discovered In Adult Breast Tissue
Human body carries personalized “patch kit," Say UCSF scientists.
Tuesday, March 05, 2013
Scientific News
Ancient Viral Molecules Essential for Human Development
Genetic material from ancient viral infections is critical to human development, according to researchers at the Stanford University School of Medicine.
CRI Identifies Emergency Blood-formation Response
Researchers report that when tissue damage occurs, an emergency blood-formation system activates.
New Way to Force Stem Cells to Become Bone Cells
Potential therapies based on this discovery could help people heal bone injuries or set hardware, such as replacement knees and hips.
Dead Bacteria to Kill Colorectal Cancer
Scientists from Nanyang Technological University (NTU Singapore) have successfully used dead bacteria to kill colorectal cancer cells.
Promise of Newborn Stem Cells to Revolutionize Clinical Practice
In this article Shweta Sharma, PhD, discusses the potential of an Umbilical Cord Blood bank as an untapped source of samples for research and clinical trials.
The Life Story of Stem Cells
A model analyses the development of stem cell numbers in the human body.
Novel Stem Cell Line Avoids Risk of Introducing Transplanted Tumors
Progenitor cells might eventually be used to repair or rebuild damaged or destroyed organs.
Advancing Genome Editing of Blood Stem Cells
Genome editing techniques for blood stem cells just got better, thanks to a team of researchers at USC and Sangamo BioSciences.
Molecule Proves Key to Brain Repair After Stroke
Scientists found that a molecule known as growth and differentiation factor 10 (GDF10) plays a key role in repair mechanisms following stroke.
Towards Patient-Specific Drug Screening
A new breakthrough by the 3D stem cell printing team at Heriot-Watt could pave the way to individually tailored drug testing regimes, both reducing the need for animal testing and ensuring that patients receive drugs which are most effective for their individual needs.
Skyscraper Banner

Skyscraper Banner
Go to LabTube
Go to eposters
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
2,800+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,000+ scientific videos