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