Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.
All Diseases
- Acute intermittent porphyria
- Adrenoleukodystrophy and adrenomyeloneuropathy
- Aicardi-Goutières syndrome
- Alexander disease
- ALG12-congenital disorder of glycosylation
- ALG13-congenital disorder of glycosylation
- ALG3-congenital disorder of glycosylation
- ALG6-congenital disorder of glycosylation
- ALG8-congenital disorder of glycosylation
- Alpers syndrome
- Alport syndrome
- ALS and related disorders
- Aminoglycoside-induced deafness
- Amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis-frontotemporal dementia
- Aortitis
- Arginase deficiency
- Argininosuccinate lyase deficiency
- Argininosuccinate synthetase deficiency
- ATP6AP1-congenital disorder of glycosylation
- ATP6AP2-congenital disorder of glycosylation
- Barth syndrome
- Behcet's disease
- Biopterin synthesis or recycling defects
- Blepharospasm/Meige
- Brain vascular malformation
- Brittle bone disorders (BBD) / osteogenesis imperfecta (OI)
- Carbamyl phosphate synthetase deficiency
- Cerebral cavernous malformations
- Cervical dystonia
- Charcot Marie tooth disease CMT1A
- Charcot Marie tooth disease CMT1B
- Charcot Marie tooth disease CMT2A
- Charcot Marie tooth disease CMT4
- Charcot Marie tooth disease CMTX
- Chronic granulomatous disease
- Chronic progressive external ophthalmoplegia
- Citrullinemia II
- CNS vasculitis
- Complex I deficiency
- Complex II deficiency
- Complex III deficiency
- Complex IV deficiency
- Complex V deficiency
- Congenital disorders of glycosylation
- Congenital erythropoietic porphyria
- Congenital infections
- CoQ deficiency
- Cryoglobulinemic vasculitis
- Cutaneous vasculitis
- Cystic fibrosis
- Cytomegalovirus
- Developmental synaptopathies
- DHDDS-Congenital Disorder of Glycosylation
- Diabetes and deafness
- Dihydropteridine reductase deficiency
- DNAJC12 deficiency
- DPAGT1-congenital disorder of glycosylation
- Drug-induced vasculitis
- Dystonia
- EDEM3-congenital disorder of glycosylation
- Encephalomyopathy
- Encephalopathy
- Enterovirus
- Eosinophilic colitis
- Eosinophilic enteritis
- Eosinophilic esophagitis
- Eosinophilic gastritis
- Eosinophilic gastrointestinal disorders
- Eosinophilic granulomatosis with polyangiitis (EPGA)
- Erythropoietic protoporphyria
- Fabry disease
- Familial bilateral striatal necrosis
- Focal and segmental glomerulosclerosis
- Frontotemporal dementia (FTD)
- FUT8-congenital disorder of glycosylation
- GALNT2-congenital disorder of glycosylation
- Generalized dystonia
- Genetic mucociliary disorders
- Giant cell (temporal) arteritis
- GMPPA-Congenital Disorder of Glycosylation
- Granulomatosis with polyangiitis
- GTP cyclohydrolase 1 deficiency (recessive form)
- Hepatocerebral disease
- Hepatoerythropoietic porphyria
- Hereditary coproporphyria
- Hereditary hemorrhagic telangiectasia
- Hereditary spastic paraplegia
- Herpes simplex virus
- Hunter syndrome
- Hurler-Scheie syndrome
- Hurler syndrome
- Hyperphenylalaninemia
- Idiopathic aortitis
- Idiopathic bronchiectasis
- IgA vasculitis
- Inherited neuropathies
- Kearns-Sayre syndrome
- Krabbe disease
- Laryngeal dystonia
- Leber hereditary optic neuropathy
- Leber hereditary optic neuropathy-plus
- Leigh syndrome
- Leukodystrophies
- Leukoencephalopathy
- Limb dystonia
- Lysosomal disorders
- MAN1B1-congenital disorder of glycosylation
- MAN2B2-congenital disorder of glycosylation
- Maroteaux-Lamy syndrome
- Maternally inherited Leigh syndrome
- Membranous nephropathy
- Metachromatic leukodystrophy
- Microscopic polyangiitis
- Minimal change disease
- Mitochondrial disease
- Mitochondrial DNA depletion syndrome
- Mitochondrial encephalomyopathy lactic acidosis with stroke-like episodes
- Mitochondrial neurogastrointestinal encephalomyopathy
- MOGS-congenital disorder of glycosylation
- Morquio syndrome
- MPI-congenital disorder of glycosylation
- Mucopolysaccharidoses
- Multifocal dystonia
- Multiple deletions of mitochondrial DNA
- Multiple respiratory chain enzyme deficiencies
- Multi-system proteinopathy
- Myasthenia gravis
- Myoclonus epilepsy ragged-red fibers
- N-acetylglutamate synthase deficiency
- Nephrotic syndrome
- Neuropathy, ataxia and retinitis pigmentosa syndrome
- NGLY1 deficiency
- Nontuberculous mycobacterium pulmonary disease
- Ocular myasthenia
- OGT-congenital disorder of glycosylation
- Ornithine transcarbamylase deficiency
- Ornithine translocase deficiency
- Other known Charcot Marie tooth (CMT) peripheral neuropathy
- Other unknown Charcot Marie tooth (CMT) peripheral neuropathy
- Pearson syndrome
- Pelizaeus-Merzbacher disease
- Peripheral neuropathy
- PGAP3-congenital disorder of glycosylation
- PGM1-congenital disorder of glycosylation
- Phelan-McDermid syndrome
- Phenylalanine hydroxylase deficiency
- Phenylketonuria
- PIGA-congenital disorder of glycosylation
- PIGN-congenital disorder of glycosylation
- PIGT-congenital disorder of glycosylation
- PMM2-congenital disorder of glycosylation
- Polyarteritis nodosa
- Pompe disease
- Porphyria cutanea tarda
- Porphyrias
- Primary ciliary dyskinesia
- Primary immune deficiency disorders
- Primary immune regulatory disorders
- Primary lateral sclerosis
- Progressive muscular atrophy
- Pseudohypoaldosteronism
- PTEN hamartoma tumor syndrome
- Pterin-4a-carbinolamine dehydratase deficiency
- Pyruvate dehydrogenase complex deficiencies
- Sanfilippo syndrome A
- Sanfilippo syndrome B
- Sanfilippo syndrome C
- Sanfilippo syndrome D
- Scheie syndrome
- Segmental dystonia
- Sensory ataxia neuropathy dysarthria and ophthalmoplegia
- Severe combined immunodeficiency
- SLC35A2-congenital disorder of glycosylation
- SLC35C1-congenital disorder of glycosylation
- SLC39A8-congenital disorder of glycosylation
- Sly syndrome
- SRD5A3-congenital disorder of glycosylation
- SSR4-congenital disorder of glycosylation
- STT3A-congenital disorder of glycosylation
- Sturge-Weber syndrome
- Takayasu's arteritis
- Tuberous sclerosis complex
- Urea cycle disorders
- Urticarial vasculitis
- Variegate porphyria
- Vasculitis disorders
- VMA21-congenital disorder of glycosylation