NIH Announces Expansion of Rare Diseases
Clinical Research Network
Nineteen New and Returning Consortia to be Awarded $117 Million
The National Institutes of Health announced today a second phase
of the Rare Diseases Clinical Research Network (RDCRN) including
funds for 19 research consortia. The Rare Diseases Clinical Research
Consortia and a Data Management Coordinating Center (DMCC) will
be awarded a total of just over $117 million over the next five
years. The research conducted with the new funding will explore
the natural history, epidemiology, diagnosis, and treatment of
more than 95 rare diseases.
"The progress made by researchers through the network over
the past six years is important and impressive," said NIH
Director Francis S. Collins, M.D., Ph.D. "We have shown that
this approach can be a catalyst for progress in meeting the challenge
of rare diseases, and we are eager to launch this next phase of
the program."
A rare disease is defined as a disease or condition affecting
fewer than 200,000 persons in the United States. Approximately
6,500 such disorders have been identified, affecting an estimated
25 million Americans.
Initially created in 2003, the RDCRN is unique in its approach
to addressing rare diseases as a group. Previously, the NIH's institutes
and centers funded research on individual rare diseases in their
respective disease-type or organ domains. The RDCRN is the first
program that aims to create a specialized infrastructure to support
rare diseases research.
Since its creation, the RDCRN has enrolled over 5,000 patients
in 37 clinical studies in rare diseases. Patient recruitment for
clinical studies is a fundamental challenge in rare diseases research
because there are typically so few affected patients in any one
area. The RDCRN was designed to address this problem by fostering
collaboration among scientists and shared access to geographically
distributed research resources. Network consortia have also established
training programs for clinical investigators who are interested
in rare diseases research.
"Collaboration is a critical element of rare diseases research
and the partnerships represented in this program have tremendous
potential to make great strides in understanding these diseases," said
Stephen C. Groft, Pharm.D., director of NIH's Office of Rare Diseases
Research (ORDR). "The network emphasizes collaboration not
just among investigators from multiple research sites but between
investigators and patient advocates as well."
The direct involvement of patient advocacy groups in network operations,
activities, and strategy is a major feature of the RDCRN. Each
consortium in the network includes relevant patient advocacy groups
in the consortium membership and activities. These patient advocacy
group representatives serve as research partners within their own
consortia. Collectively, the Coalition of Patient Advocacy Groups
(CPAG) represents the perspective and interests of all patient
advocacy organizations associated with the RDCRN. The CPAG participants
meet frequently throughout the year via teleconference and face-to-face
meetings. They participate in network-level discussions and meetings.
The CPAG chairperson is a voting member of the RDCRN Steering Committee.
Funds and scientific oversight for the RDCRN will be provided
by ORDR and seven NIH Institutes, which will also contribute considerable
administrative support to the network: the National Institute of
Neurological Disorders and Stroke (NINDS), the Eunice Kennedy
Shriver National Institute of Child Health and Human Development
(NICHD), the National Institute of Allergy and Infectious Diseases
(NIAID), the National Institute of Arthritis and Musculoskeletal
and Skin Diseases (NIAMS), the National Institute of Dental and
Craniofacial Research (NIDCR), the National Institute of Diabetes
and Digestive and Kidney Diseases (NIDDK), and the National Heart,
Lung and Blood Institute (NHLBI). Several consortia will also receive
financial support from their associated patient advocacy groups.
In the RDCRN's first phase, the network's Data and Technology
Coordinating Center (DTCC) developed a management system for the
collection, storage, and analysis of RDCRC data, and additional
systems to address needs of individual studies, such as a laboratory
data collection system, a specimen tracking system, and a pharmacy
management system (to support blinded distribution of study agents
and placebos). The DTCC also created RDCRN's central public Web
site, developed as a portal for the rare diseases community, including
patients and their families and health care professionals, to provide
information on rare disease research, consortium activities, RDCRN-approved
protocols, disease information, and practice guidelines. Located
at http://rarediseasesnetwork.epi.usf.edu/,
the Web site had over 3.4 million visits in 2008. The RDCRN DTCC
also developed a unique voluntary patient registry that provides
ongoing contact with approximately 5,000 individuals from over
60 countries representing 42 diseases, alerting them when new studies
are opened in the network or when ongoing studies expand to new
sites.
In this second phase of the RDCRN, the University of South Florida
will continue these data management efforts, under a new name and
with a slightly different charge, as the Data Management Coordinating
Center (DMCC). The DMCC will develop uniform investigative clinical
research protocols for data collection in collaboration with the
RDCRN Steering Committee, monitor protocol adherence, data collection
and data submission, and work with the each consortium's Data and
Safety Monitoring Boards to establish protocols for adverse events
notification and reporting.
"This innovative program provides unique insights into the
development of rare diseases as well as therapeutic opportunities," according
to Story C. Landis, Ph.D. director of the NINDS. "The NINDS
is proud to administer the RDCRN data management coordinating center
on behalf of the NIH."
The 19 consortia and DMCC included in this second phase of the
RDCRN are listed below.
Consortium Title, Institution,
and Principal Investigator |
NIH Collaborators |
Diseases to be studied |
Angelman, Rett, and Prader-Willi Syndromes
Consortium - University of Alabama at Birmingham - Alan K.
Percy, M.D. |
ORDR,
NICHD |
Angelman syndrome, Rett syndrome, Prader-Willi
syndrome |
Autonomic Rare Diseases Clinical Research
Consortium - Vanderbilt University - David Robertson, M.D. |
ORDR,
NINDS |
Multiple system atrophy (MSA), baroreflex
failure, autoimmune autonomic neuropathy, pure autonomic
failure (PAF), hypovolemic postural tachycardia syndrome
(hPOTS), dopamine beta hydroxylase deficiency (DBHD) |
Brain Vascular Malformation Consortium -
University of California, San Francisco -
William L. Young, M.D. |
ORDR, NINDS |
Vascular malformations: cerebral cavernous
malformation progression, Sturge-Weber syndrome, hereditary
hemorrhagic telangiectasia |
Clinical Investigation of Neurologic Channelopathies
(CINCH) - University of Rochester - Robert C. Griggs, M.D. |
ORDR, NINDS |
Nervous system channelopathies: Andersen-Tawil
syndrome, episodic ataxias, non-dystrophic myotonic disorders |
Dystonia Coalition - Emory University - Hyder
A. Jinnah, M.D. |
ORDR, NINDS |
Focal dystonias, cervical dystonia, blepharospasm,
spasmodic dysphonia, craniofacial dystonia, limb dystonia |
Genetic Disorders of Mucociliary Clearance
-University of North Carolina at Chapel Hill - Michael R.
Knowles, M.D. |
ORDR,
NHLBI |
Primary ciliary dyskinesia (PCD), cystic
fibrosis (CF), pseudohypoaldosteronism (PHA) |
Hereditary Causes of Nephrolithiasis and
Kidney Failure - Mayo Clinic College of Medicine, Rochester
- Dawn S. Milliner, M.D. |
ORDR,
NIDDK |
Rare hereditary stone diseases: primary hyperoxaluria,
cystinuria, dihydroxyadeninuria, Dent's disease |
Immune Mediated Disorders After Allogeneic
Hematopoietic Stem Cell Transfer - Fred Hutchinson Cancer
Research Center - Stephanie J. Lee, M.D., M.P.H. |
ORDR,
NIAID |
Cutaneous sclerosis, bronchiolitis obliterans,
late acute graft versus host disease (GVHD) |
Inherited Neuropathies Consortium - Wayne
State University - Michael E. Shy, M.D. |
ORDR,
NINDS |
Inherited peripheral neuropathies: Charcot-Marie-Tooth
diseases (CMT) including 1) CMT1, the dominantly inherited
demyelinating neuropathies, 2) CMT2, the dominantly inherited
axonal neuropathies, 3) CMT4, the recessively inherited neuropathies |
Lysosomal Disease Network -University of
Minnesota Twin Cities - Chester B. Whitley, M.D. |
ORDR,
NINDS,
NIDDK |
Lysosomal diseases: mucopolysaccharidosis
(MPS), MPS bone disease, Pompe disease, Niemann-Pick disease
type C, glycoproteinoses, Wolman disease, late infantile
ceroid lipofuscinosis, (LINCL), mucolipidosis type IV, hexosaminidase
deficiency, Fabry disease nephropathy, Batten-Turner muscular
dystrophy |
Molecular and Epidemiologic Characterization
of Salivary Gland Carcinomas - University of Texas M.D. Anderson
Cancer Center - Adel K. El-Naggar, M.D., Ph.D. |
ORDR,
NIDCR |
Salivary gland carcinomas: mucoepidermoid
carcinoma (MEC), adenoid cystic carcinoma (ACC), adenocarcinoma
(ACC) |
Nephrotic Syndrome Rare Disease Clinical
Research Network - University of Michigan, Ann Arbor - Matthias
Kretzler, M.D. |
ORDR,
NIDDK |
Focal and segmental glomerulosclerosis (FSGS),
minimal change disease (MCD) and membranous nephropathy (MN) |
North American Mitochondrial Diseases Consortium
- Columbia University Medical Center - Salvatore DiMauro,
M.D. |
ORDR,
NINDS |
Mitochondrial encephalopathy lactic acidosis
with stroke-like episodes (MELAS); mitochondrial neurogastrointestinal
encephalomyopathy (MNGIE); Leber’s hereditary optic
neuropathy (LHON), LHON and dystonia, Leigh syndrome;
encephalomyopathy; ALS-like syndrome of encephalomyopathy;
neuropathy, ataxia and retinitis pigmentosa syndrome (NARP);
maternally inherited Leigh syndrome (MILS); familial bilateral
striatal necrosis (FBSN); leukodystrophy; CoQ deficiency;
encephalopathy; cardioencephalomyopathy; leukodystrophy/tubulopathy;
fatal infatile encephalomyopathy |
Porphyria Rare Disease Clinical Research
Consortium - Mount Sinai School of Medicine of New York University
- Robert J. Desnick, Ph.D., M.D. |
ORDR,
NIDDK |
Porphyrias: Acute Intermittent Porphyria
(AIP), variegate porphyria (VP), hereditary coproporphyria
(HCP), aminolevulinate dehydratase deficiency porphyria (ADP),
porphyria cutanea tarda (PCT), erythropoietic protoporphyria
(EPP), congenital porphyria (CP) |
Primary Immune Deficiency Treatment Consortium
- University of California, San Francisco - Morton Cowan,
M.D. |
ORDR,
NIAID |
Primary immune deficiencies: severe combined
immunodeficiency (SCID), Wiskott-Aldrich syndrome (WAS) and
chronic granulomatous disease (CGD) |
Spinocerebellar Ataxia - Clinical Research
Consortium - University of Florida, Gainesville - Tetsuo
Ashizawa, M.D. |
ORDR,
NINDS |
Spinocerebellar ataxia: SCA 1, 2, 3, and
6 |
Sterol and Isoprenoid Diseases Consortium
- Oregon Health and Science University - Robert David Steiner,
M.D. |
ORDR,
NICHD |
Niemann-Pick disease type C, Smith-Lemli-Opitz
syndrome, Sjögren-Larsson syndrome, mevalonate kinase
deficiency, hyper-IgD syndrome, cerebrotendinous xanthomatosis
(CTX), sitosterolemia |
Urea Cycle Disorders Consortium - Children’s
National Medical Center Research Institute -
Mark L. Batshaw, M.D. |
ORDR,
NICHD |
Urea cycle disorders:
N-acetylglutamate synthetase (NAGS) deficiency, carbamoyl
phosphate synthase 1 (CPS) deficiency, ornithine transcarbamylase
(OTC) deficiency, argininosuccinate synthetase deficiency
(classic citrullinemia), citrin deficiency (citrullinemia
type 2), argininosuccinate lyase deficiency (argininosuccinic
aciduria), arginase deficiency (hyperargininemia), ornithine
translocase deficiency syndrome (HHH) |
Vasculitis Clinical Research Consortium -
Boston University Medical Campus - Peter A. Merkel, M.D.,
Ph.D. |
ORDR,
NIAMS |
Vasculitides: Wegener's granulomatosis (WG),
microscopic polyangitis (MPA), Churg-Strauss syndrome (CSS),
polyarteritis nodosa (PAN), Takayasu's arteritis (TAK), giant
cell (temporal) arteritis (GCA) |
Data Management and Coordinating Center (DMCC)
- University of South Florida - Jeffrey C. Krischer, M.D. |
ORDR,
NINDS |
|
The NIH Office of Rare Diseases Research (ORDR) stimulates and
coordinates research on rare diseases and supports research to
respond to the needs of patients, healthcare providers and the
research communities involved in efforts to improve the lives of
patients and families facing rare diseases. For more information
about ORDR and its programs, visit http://rarediseases.info.nih.gov/.
The National Institutes of Health (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. It is the primary federal agency for conducting
and supporting basic, clinical and translational medical research,
and it investigates the causes, treatments, and cures for both
common and rare diseases. For more information about NIH and
its programs, visit www.nih.gov. |