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Institute of Medicine (US) Committee on Accelerating Rare Diseases Research and Orphan Product Development; Field MJ, Boat TF, editors. Rare Diseases and Orphan Products: Accelerating Research and Development. Washington (DC): National Academies Press (US); 2010.

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Rare Diseases and Orphan Products: Accelerating Research and Development.

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ERare Diseases Clinical Research Network

The Rare Diseases Clinical Research Network, which is funded by the National Institutes of Health, includes 19 research consortia, each studying several related conditions as listed below. Each consortium involves patient groups as active participants. Information, including links to each consortium, can be found online at

  • Angelman, Rett, and Prader-Willi Syndromes Consortium
    Angelman syndrome
    Rett syndrome
    Prader-Willi syndrome
  • Autonomic Rare Diseases Clinical Research Consortium
    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
    Familial cavernous malformations (CCM) Common Hispanic mutation
    Sturge-Weber syndrome (SWS)
    Leptomeningeal angiomatosis
    Hereditary hemorrhagic telangiectasia (HHT)
    Brain arteriovenous malformation (BAVM)
  • Chronic Graft Versus Host Disease Consortium (cGVHD)
    Cutaneous sclerosis
    Bronchiolitis obliterans
    Late acute graft versus host disease
    Chronic graft versus host disease
  • CINCH: Clinical Investigation of Neurologic Channelopathies
    Andersen-Tawil syndrome
    Episodic ataxias
    Nondystrophic myotonic disorders
  • Clinical Research Consortium for Spinocerebellar Ataxias
    Spinocerebellar ataxia:
    SCA 1
    SCA 2
    SCA 3
    SCA 6
  • Dystonia Coalition
    Cervical dystonia
    Spasmodic dysphonia
    Craniofacial dystonia
    Limb dystonia
  • Genetic Disorders of Mucociliary Clearance
    Primary ciliary dyskinesia (PCD)
    Cystic fibrosis
    Pseudohypoaldosteronism (PHA)
  • Inherited Neuropathies Consortium
    Charcot-Marie-Tooth disease (CMT) including CMT1, the dominantly inherited demyelinating neuropathies
    CMT2, the dominantly inherited axonal neuropathies
    CMT4, the recessively inherited neuropathies
  • Lysosomal Disease Network
    Wolman disease
    Danon disease
    Fabry disease
    Farber disease
    Gaucher disease
    GM1-gangliosidosis types I/II/III
    GM2-gangliosidosis alpha-Mannosidosis types I / II
    Metachromatic leukodystrophy
    Sialidosis types I / II
    Mucolipidosis type IV
    Scheie syndrome
    Hunter syndrome
    Sanfilippo syndrome A
    Sanfilippo syndrome B
    Sanfilippo syndrome C
    Sanfilippo syndrome D
    Galactosialidosis types I / II
    Krabbe disease
    Sandhoff disease
    Vogt-Spielmeyer disease
    Hurler syndrome
    Niemann-Pick disease
    I-cell disease
    Pseudo-Hurler polydystrophy
    Morquio syndrome
    Maroteaux-Lamy syndrome
    Sly syndrome
    Mucopolysaccharidosis type IX
    Multiple sulfatase deficiency
    Tay-Sachs disease
    Pompe disease
    Batten disease, late infantile
    Northern epilepsy
    Schindler disease
    Sialuria, Salla disease
  • NEPTUNE: Nephrotic Syndrome Rare Disease Clinical Research Network
    Focal and segmental glomerulosclerosis (FSGS)
    Minimal change disease (MCD)
    Membranous nephropathy (MN)
  • North American Mitochondrial Diseases Consortium
    AID: aminoglycoside-induced deafness
    Alpers syndrome
    CoQ deficiency
    CPEO: chronic progressive external ophthalmoplegia
    DAD: diabetes and deafness
    FBSN: familial bilateral striatal necrosis
    Hepatocerebral disease
    KSS: Kearns-Sayre syndrome
    Leigh syndrome
    LHON: Leber's hereditary optic neuropathy
    MELAS: mitochondrial encephalopathy lactic acidosis with stroke-like episodes
    MERRF: Myoclonus epilepsy ragged-red fibers
    MILS: maternally inherited Leigh syndrome
    MNGIE: Mitochondrial neurogastrointestinal encephalomyopathy
    Mitochondrial DNA depletion syndrome
    Multiple deletions of mitochondrial DNA
    NARP: Neuropathy, ataxia and retinitis pigmentosa syndrome
    Pearson syndrome
    SANDO: Sensory ataxia neuropathy dysarthria ophthalmoplegia
    Complex I deficiency
    Complex II (SDH) deficiency
    Complex III deficiency
    Complex IV deficiency
    Complex V deficiency
    Multiple respiratory chain enzyme deficiencies
  • Porphyria Consortium
    Acute intermittent porphyria
    Hereditary coproporphyria
    Variegate porphyria
    Aminolevulinate dehydratase deficiency porphyria
    Porphyria cutanea tarda
    Hepatoerythropoietic porphyria
    Congenital porphyria
    Erythropoietic protoporphyria and X-linked protoporphyria
  • Primary Immune Deficiency Treatment Consortium
    Severe combined immunodeficiency (SCID)
    Wiskott-Aldrich syndrome (WAS)
    Chronic granulomatous disease (CGD)
  • Rare Kidney Stone Consortium
    Primary hyperoxaluria
    APRT deficiency (Dihydroxyadeninuria)
    Dent's disease
  • Salivary Gland Carcinomas Consortium
    Mucoepidermoid carcinoma (MEC)
    Adenoid cystic carcinoma (ACC)
    Adenocarcinoma (salivary duct carcinoma) (ACC)
  • STAIR: Sterol and Isoprenoid Diseases Consortium
    Cerebrotendinous xanthomatosis
    Mevalonic aciduria
    Hyperimmunoglobulinemia D with periodic fever syndrome
    Niemann-Pick disease type C
    Sjögren-Larsson syndrome
    Smith-Lemli-Opitz syndrome
  • Urea Cycle Disorders Consortium
    N-Acetylglutamate synthase (NAGS) deficiency
    Carbamylphosphate synthetase (CPS) deficiency
    Ornithine transcarbamylase (OTC) deficiency
    Argininosuccinate synthetase deficiency (citrullinemia I)
    Citrin deficiency (citrullinemia II)
    Argininosuccinate lyase deficiency (argininosuccinic aciduria)
    Arginase deficiency (hyperargininemia)
    Ornithine translocase deficiency (HHH) syndrome
  • Vasculitis Clinical Research Consortium
    Wegener's granulomatosis (WG)
    Microscopic polyangiitis (MPA)
    Churg-Strauss syndrome (CSS)
    Polyarteritis nodosa (PAN)
    Takayasu's arteritis (TAK)
    Giant cell (temporal) arteritis (GCA)
Copyright © 2010, National Academy of Sciences.
Bookshelf ID: NBK56188


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