More $ for CMT research Announces Expansion Of Rare Diseases Clinical Network

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Announces Expansion Of Rare Diseases Clinical Research Network

http://www.medadnews.com/News/Index.cfm?articleid=656279

BETHESDA, Md., Oct. 5, 2009--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. , 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 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: Angelman, Rett, and

Prader-Willi Syndromes Consortium - University of Alabama at Birmingham - Alan

K. Percy, M.D. NIH COLLABORATORS: ORDR, NICHD DISEASES TO BE STUDIED: Angelman

syndrome, Rett syndrome, Prader-Willi syndrome

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Autonomic Rare

Diseases Clinical Research Consortium - Vanderbilt University - on,

M.D. NIH COLLABORATORS: ORDR, NINDS DISEASES TO BE STUDIED: Multiple system

atrophy (MSA), baroreflex failure, autoimmune autonomic neuropathy, pure

autonomic failure (PAF), hypovolemic postural tachycardia syndrome (hPOTS),

dopamine beta hydroxylase deficiency (DBHD)

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Brain Vascular

Malformation Consortium - University of California, San Francisco - L.

Young, M.D. NIH COLLABORATORS: ORDR, NINDS DISEASES TO BE STUDIED: Vascular

malformations: cerebral cavernous malformation progression, Sturge-Weber

syndrome, hereditary hemorrhagic telangiectasia

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Clinical

Investigation of Neurologic Channelopathies (CINCH) - University of Rochester -

C. Griggs, M.D. NIH COLLABORATORS: ORDR, NINDS DISEASES TO BE STUDIED:

Nervous system channelopathies: Andersen-Tawil syndrome, episodic ataxias,

non-dystrophic myotonic disorders

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Dystonia Coalition -

Emory University - Hyder A. Jinnah, M.D. NIH COLLABORATORS: ORDR, NINDS DISEASES

TO BE STUDIED: Focal dystonias, cervical dystonia, blepharospasm, spasmodic

dysphonia, craniofacial dystonia, limb dystonia

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Genetic Disorders of

Mucociliary Clearance -University of North Carolina at Chapel Hill - R.

Knowles, M.D. NIH COLLABORATORS: ORDR, NHLBI DISEASES TO BE STUDIED: Primary

ciliary dyskinesia (PCD), cystic fibrosis (CF), pseudohypoaldosteronism (PHA)

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Hereditary Causes of

Nephrolithiasis and Kidney Failure - Mayo Clinic College of Medicine, Rochester

- Dawn S. Milliner, M.D. NIH COLLABORATORS: ORDR, NIDDK DISEASES TO BE STUDIED:

Rare hereditary stone diseases: primary hyperoxaluria, cystinuria,

dihydroxyadeninuria, Dent's disease

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Immune Mediated

Disorders After Allogeneic Hematopoietic Stem Cell Transfer - Fred Hutchinson

Cancer Research Center - J. Lee, M.D., M.P.H. NIH COLLABORATORS: ORDR,

NIAID DISEASES TO BE STUDIED: Cutaneous sclerosis, bronchiolitis obliterans,

late acute graft versus host disease (GVHD)

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Inherited

Neuropathies Consortium - Wayne State University - E. Shy, M.D. NIH

COLLABORATORS: ORDR, NINDS DISEASES TO BE STUDIED: 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

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Lysosomal Disease

Network -University of Minnesota Twin Cities - Chester B. Whitley, M.D. NIH

COLLABORATORS: ORDR, NINDS, NIDDK DISEASES TO BE STUDIED: 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- muscular dystrophy

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Molecular and

Epidemiologic Characterization of Salivary Gland Carcinomas - University of

Texas M.D. Cancer Center - Adel K. El-Naggar, M.D., Ph.D. NIH

COLLABORATORS: ORDR, NIDCR DISEASES TO BE STUDIED: Salivary gland carcinomas:

mucoepidermoid carcinoma (MEC), adenoid cystic carcinoma (ACC), adenocarcinoma

(ACC)

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Nephrotic Syndrome

Rare Disease Clinical Research Network - University of Michigan, Ann Arbor -

Matthias Kretzler, M.D. NIH COLLABORATORS: ORDR, NIDDK DISEASES TO BE STUDIED:

Focal and segmental glomerulosclerosis (FSGS), minimal change disease (MCD) and

membranous nephropathy (MN)

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: North American

Mitochondrial Diseases Consortium - Columbia University Medical Center -

Salvatore DiMauro, M.D. NIH COLLABORATORS: ORDR, NINDS DISEASES TO BE STUDIED:

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

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Porphyria Rare

Disease Clinical Research Consortium - Mount Sinai School of Medicine of New

York University - J. Desnick, Ph.D., M.D. NIH COLLABORATORS: ORDR, NIDDK

DISEASES TO BE STUDIED: 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)

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Primary Immune

Deficiency Treatment Consortium - University of California, San Francisco -

Morton Cowan, M.D. NIH COLLABORATORS: ORDR, NIAID DISEASES TO BE STUDIED:

Primary immune deficiencies: severe combined immunodeficiency (SCID),

Wiskott-Aldrich syndrome (WAS) and chronic granulomatous disease (CGD)

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Spinocerebellar

Ataxia - Clinical Research Consortium - University of Florida, Gainesville -

Tetsuo Ashizawa, M.D. NIH COLLABORATORS: ORDR, NINDS DISEASES TO BE STUDIED:

Spinocerebellar ataxia: SCA 1, 2, 3, and 6

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Sterol and Isoprenoid

Diseases Consortium - Oregon Health and Science University -

Steiner, M.D. NIH COLLABORATORS: ORDR, NICHD DISEASES TO BE STUDIED:

Niemann-Pick disease type C, -Lemli-Opitz syndrome, Sjögren-Larsson

syndrome, mevalonate kinase deficiency, hyper-IgD syndrome, cerebrotendinous

xanthomatosis (CTX), sitosterolemia

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Urea Cycle Disorders

Consortium - Children's National Medical Center Research Institute - Mark L.

Batshaw, M.D. NIH COLLABORATORS: ORDR, NICHD DISEASES TO BE STUDIED: 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)

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Vasculitis Clinical

Research Consortium - Boston University Medical Campus - A. Merkel, M.D.,

Ph.D. NIH COLLABORATORS: ORDR, NIAMS DISEASES TO BE STUDIED: Vasculitides:

Wegener's granulomatosis (WG), microscopic polyangitis (MPA), Churg-Strauss

syndrome (CSS), polyarteritis nodosa (PAN), Takayasu's arteritis (TAK), giant

cell (temporal) arteritis (GCA)

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Data Management and

Coordinating Center (DMCC) - University of South Florida - C. Krischer,

M.D. NIH COLLABORATORS: 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>.