|NIH Announces Expansion of
Rare Diseases Clinical Research Network
Nineteen New and Returning Consortia to be Awarded
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
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
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.
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.
Institution, and Principal Investigator
||Diseases to be
|Angelman, Rett, and
Prader-Willi Syndromes Consortium - University
of Alabama at Birmingham - Alan K. Percy, M.D.
|Angelman syndrome, Rett
syndrome, Prader-Willi syndrome
|Autonomic Rare Diseases
Clinical Research Consortium - Vanderbilt
University - David Robertson, M.D.
|Multiple system atrophy (MSA),
baroreflex failure, autoimmune autonomic
neuropathy, pure autonomic failure (PAF),
hypovolemic postural tachycardia syndrome
(hPOTS), dopamine beta hydroxylase deficiency
|Brain Vascular Malformation
Consortium - University of California, San
William L. Young, M.D.
cerebral cavernous malformation progression,
Sturge-Weber syndrome, hereditary hemorrhagic
|Clinical Investigation of
Neurologic Channelopathies (CINCH) - University
of Rochester - Robert C. Griggs, M.D.
||Nervous system channelopathies:
Andersen-Tawil syndrome, episodic ataxias,
non-dystrophic myotonic disorders
|Dystonia Coalition - Emory
University - Hyder A. Jinnah, M.D.
||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,
|Primary ciliary dyskinesia
(PCD), cystic fibrosis (CF),
|Hereditary Causes of
Nephrolithiasis and Kidney Failure - Mayo Clinic
College of Medicine, Rochester - Dawn S.
|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.
bronchiolitis obliterans, late acute graft
versus host disease (GVHD)
Consortium - Wayne State University - Michael E.
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.
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
|Molecular and Epidemiologic
Characterization of Salivary Gland Carcinomas -
University of Texas M.D. Anderson Cancer Center
- Adel K. El-Naggar, M.D., Ph.D.
|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.
|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.
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;
leukodystrophy/tubulopathy; fatal infatile
|Porphyria Rare Disease Clinical
Research Consortium - Mount Sinai School of
Medicine of New York University - Robert J.
Desnick, Ph.D., M.D.
|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.
|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.
|Spinocerebellar ataxia: SCA 1,
2, 3, and 6
|Sterol and Isoprenoid Diseases
Consortium - Oregon Health and Science
University - Robert David Steiner, M.D.
|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
Mark L. Batshaw, M.D.
|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.
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.
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
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