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Rare Diseases and Orphan Products: Accelerating Research and Development (2010)

Chapter:Appendix E: Rare Diseases Clinical Research Network

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Suggested Citation:"Appendix E: Rare Diseases Clinical Research Network." Institute of Medicine. 2010. Rare Diseases and Orphan Products: Accelerating Research and Development. Washington, DC: The National Academies Press. doi: 10.17226/12953.
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E
Rare 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 http://rarediseasesnetwork.epi.usf.edu/.


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)

Suggested Citation:"Appendix E: Rare Diseases Clinical Research Network." Institute of Medicine. 2010. Rare Diseases and Orphan Products: Accelerating Research and Development. Washington, DC: The National Academies Press. doi: 10.17226/12953.
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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

Blepharospasm

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

Aspartylglucosaminuria

Wolman disease

Cystinosis

Danon disease

Fabry disease

Suggested Citation:"Appendix E: Rare Diseases Clinical Research Network." Institute of Medicine. 2010. Rare Diseases and Orphan Products: Accelerating Research and Development. Washington, DC: The National Academies Press. doi: 10.17226/12953.
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Farber disease

Fucosidosis

Gaucher disease

GM1-gangliosidosis types I/II/III

GM2-gangliosidosis

alpha-Mannosidosis types I / II

Beta-Mannosidosis

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

Pycnodysostosis

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)

Suggested Citation:"Appendix E: Rare Diseases Clinical Research Network." Institute of Medicine. 2010. Rare Diseases and Orphan Products: Accelerating Research and Development. Washington, DC: The National Academies Press. doi: 10.17226/12953.
×

North American Mitochondrial Diseases Consortium

AID: aminoglycoside-induced deafness

Alpers syndrome

CoQ deficiency

CPEO: chronic progressive external ophthalmoplegia

DAD: diabetes and deafness

Encephalopathy

Encephalomyopathy

FBSN: familial bilateral striatal necrosis

Hepatocerebral disease

KSS: Kearns-Sayre syndrome

Leigh syndrome

Leukoencephalopathy

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)

Suggested Citation:"Appendix E: Rare Diseases Clinical Research Network." Institute of Medicine. 2010. Rare Diseases and Orphan Products: Accelerating Research and Development. Washington, DC: The National Academies Press. doi: 10.17226/12953.
×

Wiskott-Aldrich syndrome (WAS)

Chronic granulomatous disease (CGD)


Rare Kidney Stone Consortium

Primary hyperoxaluria

Cystinuria

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

Sitosterolemia

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)

Suggested Citation:"Appendix E: Rare Diseases Clinical Research Network." Institute of Medicine. 2010. Rare Diseases and Orphan Products: Accelerating Research and Development. Washington, DC: The National Academies Press. doi: 10.17226/12953.
×

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Suggested Citation:"Appendix E: Rare Diseases Clinical Research Network." Institute of Medicine. 2010. Rare Diseases and Orphan Products: Accelerating Research and Development. Washington, DC: The National Academies Press. doi: 10.17226/12953.
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Suggested Citation:"Appendix E: Rare Diseases Clinical Research Network." Institute of Medicine. 2010. Rare Diseases and Orphan Products: Accelerating Research and Development. Washington, DC: The National Academies Press. doi: 10.17226/12953.
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Suggested Citation:"Appendix E: Rare Diseases Clinical Research Network." Institute of Medicine. 2010. Rare Diseases and Orphan Products: Accelerating Research and Development. Washington, DC: The National Academies Press. doi: 10.17226/12953.
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Suggested Citation:"Appendix E: Rare Diseases Clinical Research Network." Institute of Medicine. 2010. Rare Diseases and Orphan Products: Accelerating Research and Development. Washington, DC: The National Academies Press. doi: 10.17226/12953.
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Suggested Citation:"Appendix E: Rare Diseases Clinical Research Network." Institute of Medicine. 2010. Rare Diseases and Orphan Products: Accelerating Research and Development. Washington, DC: The National Academies Press. doi: 10.17226/12953.
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Suggested Citation:"Appendix E: Rare Diseases Clinical Research Network." Institute of Medicine. 2010. Rare Diseases and Orphan Products: Accelerating Research and Development. Washington, DC: The National Academies Press. doi: 10.17226/12953.
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Rare diseases collectively affect millions of Americans of all ages, but developing drugs and medical devices to prevent, diagnose, and treat these conditions is challenging. The Institute of Medicine (IOM) recommends implementing an integrated national strategy to promote rare diseases research and product development.

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