Rare Diseases and Orphan Products Accelerating Research and Development (2010) / Chapter Skim
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Appendix E: Rare Diseases Clinical Research Network
Appendix E: Rare Diseases Clinical Research Network
Pages 365-370
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From page 365... ...
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)
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From page 366... ...
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
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From page 367... ...
Membranous nephropathy (MN)
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From page 368... ...
RARE DISEASES AND ORPHAN PRODUCTS 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)
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From page 369... ...
(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)
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