Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 21 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
- 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
- Alpha 1 antitrypsin deficiency
- Alport syndrome
- ALS and related disorders
- Aminoglycoside-induced deafness
- Amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis-frontotemporal dementia
- Aortitis
- Apert syndrome
- Arginase deficiency
- Argininosuccinate lyase deficiency
- Argininosuccinate synthetase deficiency
- ATP6AP1-congenital disorder of glycosylation
- ATP6AP2-congenital disorder of glycosylation
- Autoimmune encephalitis
- Autosomal dominant hyper IgE syndrome
- Autosomal dominant leukodystrophy
- Barth syndrome
- Behcet's disease
- Biopterin synthesis or recycling defects
- Blepharospasm/Meige
- Brain vascular malformation
- Brittle bone disorders (BBD) / osteogenesis imperfecta (OI)
- Canavan disease
- Carbamyl phosphate synthetase deficiency
- Cerebral cavernous malformations
- Cerebrotendinous xanthomatosis
- Ceroid lipofuscinosis, neuronal, 4 (kufs type)
- Ceroid lipofuscinosis, neuronal, 6a
- 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
- Cobalamin C disease (and other forms of methylmalonic acidemia and homocystinuria)
- COG5-congenital disorder of glycosylation
- Complement mediated thrombotic microangiopathy
- Complex I deficiency
- Complex II deficiency
- Complex III deficiency
- Complex IV deficiency
- Complex lymphatic anomalies
- Complex V deficiency
- Congenital and perinatal infections
- Congenital disorders of glycosylation
- Congenital erythropoietic porphyria
- Congenital thrombotic thrombocytopenic purpura
- CoQ deficiency
- Crouzon syndrome
- Cryoglobulinemic vasculitis
- CSF1R-related leukodystrophy
- Cutaneous vasculitis
- Cystic fibrosis
- Cytomegalovirus
- DDOST-congenital disorder of glycosylation
- Developmental synaptopathies
- DHDDS-Congenital Disorder of Glycosylation
- Diabetes and deafness
- Dihydropteridine reductase deficiency
- Dimorphic fungi
- 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
- Extracranial arteriovenous malformations
- 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
- Glutaric aciduria type 1
- GMPPA-Congenital Disorder of Glycosylation
- GMPPB-congenital disorder of glycosylation
- GPT2 deficiency
- Granulomatosis with polyangiitis
- GTP cyclohydrolase 1 deficiency (recessive form)
- Hepatocerebral disease
- Hepatoerythropoietic porphyria
- Hereditary coproporphyria
- Hereditary hemorrhagic telangiectasia
- Hereditary spastic paraplegia
- Herpes simplex virus
- Humoral immune deficiencies
- Hunter syndrome
- Hurler-Scheie syndrome
- Hurler syndrome
- Hyperphenylalaninemia
- Idiopathic aortitis
- Idiopathic bronchiectasis
- IgA vasculitis
- Immune thrombotic thrombocytopenia
- Inherited neuropathies
- Invasive aspergillosis
- Isolated methylmalonic acidemia
- Isovaleric acidemia
- Kearns-Sayre syndrome
- Klinefelter syndrome
- Krabbe disease
- Kufs-type neuronal ceroid lipofuscinosis
- Laryngeal dystonia
- Leber hereditary optic neuropathy
- Leber hereditary optic neuropathy-plus
- Leigh syndrome
- Leukodystrophies
- Leukoencephalopathy
- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
- Leukoencephalopathy with calcifications and cysts
- 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
- Muenke syndrome
- Multifocal dystonia
- Multiple deletions of mitochondrial DNA
- Multiple respiratory chain enzyme deficiencies
- Multiple sulfatase deficiency
- Multi-system proteinopathy
- Myasthenia gravis
- Myoclonus epilepsy ragged-red fibers
- N-acetylglutamate synthase deficiency
- Nephrotic syndrome
- Neuronal ceroid lipofuscinosis 1
- Neuronal ceroid lipofuscinosis 10
- Neuronal ceroid lipofuscinosis 11
- Neuronal ceroid lipofuscinosis 14
- Neuronal ceroid lipofuscinosis 2
- Neuronal ceroid lipofuscinosis 3
- Neuronal ceroid lipofuscinosis 5
- Neuronal ceroid lipofuscinosis 7
- Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
- Neuropathy, ataxia and retinitis pigmentosa syndrome
- New onset refractory status epileptus
- NGLY1 deficiency
- Non-aspergillus molds
- Nontuberculous mycobacterium pulmonary disease
- NUS1–congenital disorder of glycosylation
- 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
- Parkinsonism due to ATP13A2 deficiency
- Pearson syndrome
- Pelizaeus-Merzbacher disease
- Pelizaeus–Merzbacher-like disease
- Peripheral neuropathy
- Pfeiffer syndrome
- 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
- PIK3CA-Related overgrowth spectrum with vascular malformations
- PMM2-congenital disorder of glycosylation
- POLR3-related leukodystrophy
- Polyarteritis nodosa
- Pompe disease
- Porphyria cutanea tarda
- Porphyrias
- Primary cell dyskinesia
- Primary ciliary dyskinesia
- Primary immune deficiency disorders
- Primary immune regulatory disorders
- Primary lateral sclerosis
- Progressive muscular atrophy
- Propionic acidemia
- Pseudohypoaldosteronism
- PTEN hamartoma tumor syndrome
- Pterin-4a-carbinolamine dehydratase deficiency
- Pyruvate dehydrogenase complex deficiencies
- Rare invasive fungal diseases
- Rasmussen's encephalitis
- RFT1-Congenital Disorder of Glycosylation
- Saethre-chotzen syndrome
- 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
- Sex chromosome aneuploidy
- SLC35A2-congenital disorder of glycosylation
- SLC35C1-congenital disorder of glycosylation
- SLC39A8-congenital disorder of glycosylation
- Sly syndrome
- Spastic paraplegia 3A
- Spastic paraplegia 4
- Spastic paraplegia 47
- Spastic paraplegia 49
- Spastic paraplegia 50
- Spastic paraplegia 51
- Spastic paraplegia 52
- Spastic paraplegia 56
- Spastic paraplegia 5A
- Spastic paraplegia 83
- SRD5A3-congenital disorder of glycosylation
- SSR4-congenital disorder of glycosylation
- STT3A-congenital disorder of glycosylation
- Sturge-Weber syndrome
- Syndromic craniosynostosis
- SYNGAP1-related intellectual disability
- Takayasu's arteritis
- Tetrasomy X
- TRAPPC11-congenital disorder of glycosylation
- Trisomy X syndrome
- TUBB4A-related leukodystrophy
- Tuberous sclerosis complex
- Turner syndrome
- Urea cycle disorders
- Urticarial vasculitis
- Vanishing white matter disease
- Variegate porphyria
- Vasculitis disorders
- VMA21-congenital disorder of glycosylation