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General interest items edited by Janice Flahiff

[Repost] NIH funds research consortia to study more than 200 rare diseases

From the 8 October 2014 EurkAlert

$29 million awarded to expand NCATS’ collaborative Rare Diseases Clinical Research Network

Physician scientists at 22 consortia will collaborate with representatives of 98 patient advocacy groups to advance clinical research and investigate new treatments for patients with rare diseases. The collaborations are made possible through awards by the National Institutes of Health — totaling about $29 million in fiscal year 2014 funding — to expand the Rare Diseases Clinical Research Network (RDCRN), which is led by NIH’s National Center for Advancing Translational Sciences (NCATS).

There are several thousand rare diseases, of which only a few hundred have any treatments available. Combined, rare diseases affect an estimated 25 million Americans. Some obstacles to developing rare disease treatments include difficulties in diagnosis, widely dispersed patients and scientific experts, a perception of high risk, and a lack of data from natural history studies, which follow a group of people with a specific medical condition over time.

“NCATS seeks to tackle these challenges in an integrated way by working to identify common elements among rare diseases,” said NCATS Director Christopher P. Austin, M.D. “The RDCRN consortia provide a robust data source that enables scientists to better understand and share these commonalities, ultimately allowing us to accelerate the development of new approaches for diagnosing and treating rare diseases.”

Many patients with rare diseases often struggle to obtain an accurate diagnosis and find the right treatments. In numerous cases, RDCRN consortia have become centers of excellence for diagnosing and monitoring diseases that few clinicians see on a regular basis.

These latest awards establish six new RDCRN consortia:

Consortium Name Lead Institution/ Principal Investigator Disease Areas of Study
Brittle Bone Disorders Consortium of the Rare Diseases Clinical Research Network Baylor College of Medicine, Houston/ Brendan Lee, M.D., Ph.D. Bone diseases (e.g., osteogenesis imperfecta)
Clinical Research in Amyotrophic Lateral Sclerosis (ALS) and Related Disorders for Therapeutic Development University of Miami Miller School of Medicine/Michael Benatar, M.B.Ch.B., M.S., D.Phil. Neurological diseases (e.g., ALS, frontotemporal dementia, hereditary spastic paraplegia, primary lateral sclerosis, progressive muscular atrophy)
Consortium of Eosinophilic Gastrointestinal Disease Researchers Children’s Hospital Medical Center, Cincinnati/Marc E. Rothenberg, M.D., Ph.D. Food allergy disorders (e.g., eosinophilic esophagitis, eosinophilic gastritis, eosinophilic colitis)
Developmental Synaptopathies Associated with TSC, PTEN and SHANK3 Mutations Children’s Hospital Corporation, Boston/ Mustafa Sahin, M.D., Ph.D. Neurological diseases (e.g., autism spectrum disorders, intellectual disabilities)
Frontotemporal Lobar Degeneration Clinical Research Consortium University of California, San Francisco/Adam L. Boxer, M.D., Ph.D. Neurological diseases (e.g., corticobasal syndrome, frontotemporal lobar degeneration, frontotemporal dementia, primary progressive aphasia, progressive supranuclear palsy syndrome)
Rare Lung Diseases Consortium: Molecular Pathway-Driven Diagnostics and Therapeutics for Rare Lung Diseases Cincinnati Children’s Hospital Medical Center/ Bruce Trapnell, M.D. Lung diseases (hereditary interstitial lung disease, lymphangioleiomyomatosis, pulmonary alveolar proteinosis, Hermansky-Pudlak syndrome)
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To learn more about the six new and 16 continuing consortia as well as the DMCC, visit http://www.ncats.nih.gov/rdcrn-awards2014.html.

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To find out about specific clinical trials, and how to apply…
Go to clinicaltrials.gov

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October 13, 2014 - Posted by | Uncategorized | , , , ,

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