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<div about="/news-events/news-releases/nih-funds-research-consortia-study-more-200-rare-diseases" typeof="sioc:Item foaf:Document" class="ds-1col node node--nih-news-release news-release featured-media-floated view-mode-full node--full node--nih-news-release--full clearfix">
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<p class="publishdate"><span class="tag-term">News Release</span></p><p class="publishdate"><span property="dc:date" datatype="xsd:dateTime" content="2014-10-08T11:00:00-04:00" class="date-display-single">Wednesday, October 8, 2014</span></p><h1>NIH funds research consortia to study more than 200 rare diseases</h1><p class="subtitle">
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$29 million awarded to expand NCATS’ collaborative Rare Diseases Clinical Research Network.</p><div class="featured-media"><div class="ds-1col file file-image file-image-jpeg view-mode-featured_media clearfix">
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<picture title="Image showing severe brain tissue loss">
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<!--[if IE 9]><video style="display: none;"><![endif]-->
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<source srcset="https://www.nih.gov/sites/default/files/styles/featured_media_breakpoint-large-extra/public/news-events/news-releases/2014/20141008-brain.jpg?itok=Ws3hrldj&timestamp=1436888317 1x" media="screen and (min-width: 1100px)" />
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<source srcset="https://www.nih.gov/sites/default/files/styles/featured_media_breakpoint-large/public/news-events/news-releases/2014/20141008-brain.jpg?itok=OyvkugAT&timestamp=1436888317 1x" media="screen and (min-width: 960px)" />
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<source srcset="https://www.nih.gov/sites/default/files/styles/featured_media_breakpoint-medium/public/news-events/news-releases/2014/20141008-brain.jpg?itok=8diAyh89&timestamp=1436888317 1x" media="screen and (min-width: 800px)" />
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<source srcset="https://www.nih.gov/sites/default/files/styles/featured_media_breakpoint-medium-small/public/news-events/news-releases/2014/20141008-brain.jpg?itok=kH9aCDwe&timestamp=1436888317 1x" media="screen and (min-width: 600px)" />
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<source srcset="https://www.nih.gov/sites/default/files/styles/featured_media_breakpoint-small/public/news-events/news-releases/2014/20141008-brain.jpg?itok=IGvPwPLT&timestamp=1436888317 1x" media="screen and (min-width: 480px)" />
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<source srcset="https://www.nih.gov/sites/default/files/styles/featured_media__breakpoint-tiny_/public/news-events/news-releases/2014/20141008-brain.jpg?itok=3Zheg5Bz&timestamp=1436888317 1x" media="screen and (min-width: 0)" />
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<!--[if IE 9]></video><![endif]-->
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<img src="https://www.nih.gov/sites/default/files/styles/featured_media_breakpoint-medium/public/news-events/news-releases/2014/20141008-brain.jpg?itok=8diAyh89&timestamp=1436888317" alt="Image showing severe brain tissue loss" title="Image showing severe brain tissue loss" />
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</picture><span class="caption">Adam L. Boxer, M.D., Ph.D., who leads the RDCRN-supported Frontotemporal Lobar Degeneration (FTLD) Clinical Research Consortium, is exploring a group of progressive brain diseases that damage brain networks controlling behavior, cognition and movement. This image illustrates severe brain tissue loss over one year for patients with two types of FTLD: behavioral variant frontotemporal dementia (red-</span></div>
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</div><p>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).</p>
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||
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||
<p>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.</p>
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||
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||
<p>“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.”</p>
|
||
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||
<p>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.</p>
|
||
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||
<p>The RDCRN was established in 2003 by the NIH Office of Rare Diseases. NCATS now oversees the program, which is designed to advance medical research on rare diseases by facilitating collaboration, study enrollment and data sharing. Since the program’s launch, nearly 29,000 participants have been enrolled in network clinical studies. Currently, the network is composed of about 2,600 researchers, including NIH scientific program staff, academic investigators and members of 98 patient advocacy groups. Ninety-one studies are underway.</p>
|
||
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||
<p>The network has enabled many translational research successes, including advances at the <a href="http://www.rarediseasesnetwork.org/ucdc/">Urea Cycle Disorders Consortium</a> at Children’s National Medical Center in Washington, D.C. The consortium contributed to the development and U.S. Food and Drug Administration approval of three drugs to treat urea cycle disorders. Patients with these disorders have a severe deficiency or are missing one or more of the first four enzymes in the urea cycle. These enzymes help regulate the body’s ability to break down ammonia and other undesirable products.</p>
|
||
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||
<p>With the new awards, scientists at the 22 RDCRN consortia will conduct a minimum of two multisite clinical studies, including one longitudinal natural history study for a group of at least three related rare diseases. The RDCRN Data Management and Coordinating Center (DMCC) will continue to support the consortia by providing technologies and tools to collect and analyze standardized clinical research data, as well as supporting study design.</p>
|
||
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||
<p>“The real strength of the collaboration among RDCRN consortia is the power to obtain high-quality data,” said Pamela M. McInnes, D.D.S., acting director of the NCATS Office of Rare Diseases Research and NCATS deputy director. “These data form an important base to better define patient populations, attract industry partners, share information on best practices and advance treatment options for the rare disease patient community.”</p>
|
||
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||
<p>Direct involvement of patient advocacy groups in operations and strategy is a major feature of the network, and each consortium partners with relevant patient advocacy groups. Network consortia also establish training programs for clinical investigators interested in rare diseases research, provide information to the public about the rare diseases that they study, and enable proof of concept in clinical research studies.</p>
|
||
|
||
<h3>These latest awards establish six new RDCRN consortia</h3>
|
||
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||
<table border="0" cellpadding="10" cellspacing="0" class="table-fancy">
|
||
<tbody>
|
||
<tr>
|
||
<th>Consortium Name</th>
|
||
<th>Lead Institution/ Principal Investigator</th>
|
||
<th>Disease Areas of Study</th>
|
||
</tr>
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||
<tr>
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||
<td>Brittle Bone Disorders Consortium of the Rare Diseases Clinical Research Network</td>
|
||
<td>Baylor College of Medicine, Houston/ Brendan Lee, M.D., Ph.D.</td>
|
||
<td>Bone diseases (e.g., osteogenesis imperfecta)</td>
|
||
</tr>
|
||
<tr>
|
||
<td>Clinical Research in Amyotrophic Lateral Sclerosis (ALS) and Related Disorders for Therapeutic Development</td>
|
||
<td>University of Miami Miller School of Medicine/Michael Benatar, M.B.Ch.B., M.S., D.Phil.</td>
|
||
<td>Neurological diseases (e.g., ALS, frontotemporal dementia, hereditary spastic paraplegia, primary lateral sclerosis, progressive muscular atrophy)</td>
|
||
</tr>
|
||
<tr>
|
||
<td>Consortium of Eosinophilic Gastrointestinal Disease Researchers</td>
|
||
<td>Children’s Hospital Medical Center, Cincinnati/Marc E. Rothenberg, M.D., Ph.D.</td>
|
||
<td>Food allergy disorders (e.g., eosinophilic esophagitis, eosinophilic gastritis, eosinophilic colitis)</td>
|
||
</tr>
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||
<tr>
|
||
<td>Developmental Synaptopathies Associated with <em>TSC</em>, <em>PTEN</em> and <em>SHANK3</em> Mutations</td>
|
||
<td>Children’s Hospital Corporation, Boston/ Mustafa Sahin, M.D., Ph.D.</td>
|
||
<td>Neurological diseases (e.g., autism spectrum disorders, intellectual disabilities)</td>
|
||
</tr>
|
||
<tr>
|
||
<td>Frontotemporal Lobar Degeneration Clinical Research Consortium</td>
|
||
<td>University of California, San Francisco/Adam L. Boxer, M.D., Ph.D.</td>
|
||
<td>Neurological diseases (e.g., corticobasal syndrome, frontotemporal lobar degeneration, frontotemporal dementia, primary progressive aphasia, progressive supranuclear palsy syndrome)</td>
|
||
</tr>
|
||
<tr>
|
||
<td>Rare Lung Diseases Consortium: Molecular Pathway-Driven Diagnostics and Therapeutics for Rare Lung Diseases</td>
|
||
<td>Cincinnati Children’s Hospital Medical Center/ Bruce Trapnell, M.D.</td>
|
||
<td>Lung diseases (hereditary interstitial lung disease, lymphangioleiomyomatosis, pulmonary alveolar proteinosis, Hermansky-Pudlak syndrome)</td>
|
||
</tr>
|
||
</tbody>
|
||
</table>
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||
|
||
<p>To learn more about the six new and 16 continuing consortia as well as the DMCC, visit <a href="http://www.ncats.nih.gov/rdcrn-awards2014.html">http://www.ncats.nih.gov/rdcrn-awards2014.html</a>.</p>
|
||
|
||
<p>Funding and scientific oversight for the RDCRN are provided by NCATS and 10 NIH components: the <em>Eunice Kennedy Shriver</em> National Institute of Child Health and Human Development; the National Cancer Institute; the National Heart, Lung and Blood Institute; the National Institute of Allergy and Infectious Diseases; the National Institute of Arthritis and Musculoskeletal and Skin Diseases; the National Institute of Dental and Craniofacial Research; the National Institute of Diabetes and Digestive and Kidney Diseases; the National Institute of Mental Health; the National Institute of Neurological Disorders and Stroke and the Office of the Director. In addition, patient advocacy groups provide funds for many of the projects.</p>
|
||
|
||
<p>To read more about the RDCRN program and view information about the consortia, visit <a href="http://www.ncats.nih.gov/rdcrn.html">http://www.ncats.nih.gov/rdcrn.html</a>.</p>
|
||
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<p>The National Center for Advancing Translational Sciences (NCATS) is a distinctly different entity in the research ecosystem. Rather than targeting a particular disease or fundamental science, NCATS focuses on what is common across diseases and the translational process. The Center emphasizes innovation and deliverables, relying on the power of data and new technologies to develop, demonstrate and disseminate improvements in translational science that bring about tangible improvements in human health. For more information, visit <a href="http://www.ncats.nih.gov/">http://www.ncats.nih.gov</a>.</p>
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<p><strong>About the National Institutes of Health (NIH):</strong>
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NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit <a href="/">www.nih.gov</a>.</p>
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