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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)
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
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)
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)
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)