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...and future opportunities to participate in research!

YOU can help in the fight against rare diseases

Maintaining the Relationship Between Patients and Researchers is Vital!

Participation in Research Makes it Possible for Researchers to:

:: provide the best possible care to patients affected by rare diseases
:: improve methods in studying your disease
:: achieve deeper understanding of your disease and its causes
:: find new treatments
:: create new studies

The RDCRN has over 150 clinical sites available, and is adding more every day! View All Studies >

Spotlight on Rare Diseases

Quarterly Newsletter of the NIH Rare Diseases Clinical Research Network

Past Events

2nd Conference on
Clinical Research
on Rare Diseases

Network Resources

Who are We?

The Rare Diseases Clinical Research Network (RDCRN) is made up of 19 distinctive consortia that are working in concert to improve availability of rare disease information, treatment, clinical studies, and general awareness for both patients and the medical community. The RDCRN also aims to provide up-to-date information for patients and to assist in connecting patients with advocacy groups, expert doctors, and clinical research opportunities.

Click on the Consortium Name to view the diseases or disorders studied by each consortium. Clicking on a disease or disorder name will take you directly to a description of that disease or disorder.

	[+] NEPTUNE: Nephrotic Syndrome Rare Disease Clinical Research Network Focal and segmental glomerulosclerosis (FSGS) minimal change disease (MCD) membranous nephropathy (MN)	[ go to web site ] [ study information ]
	[+] 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	[ go to web site ]
	[+] Porphyrias Consortium Acute Intermittent Porphyria (AIP) Hereditary Coproporphyria (HCP) Variegate Porphyria (VP) Aminolevulinate Dehydratase Deficiency Porphyria (ADP) Porphyria Cutanea Tarda (PCT) Hepatoerythropoietic Porphyria (HEP) Congenital Erythropoietic Porphyria (CEP) Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP)	[ go to web site ] [ Study Information ]
	[+] Primary Immune Deficiency Treatment Consortium severe combined immunodeficiency (SCID) Wiskott-Aldrich syndrome (WAS) chronic granulomatous disease (CGD)	[ go to web site ] [ Study Information ]
	[+] Rare Kidney Stone Consortium primary hyperoxaluria cystinuria APRT deficiency (Dihydroxyadeninuria) Dent disease Lowe Syndrome	[ go to web site ]
	[+] Salivary Gland Carcinomas Consoritum mucoepidermoid carcinoma (MEC) adenoid cystic carcinoma (ACC) Adenocarcinoma salivary duct carcinoma (AC)	[ go to web site ] [ Study Information ]
	[+] STAIR: Sterol and Isoprenoid Diseases Consortium Smith-Lemli-Opitz Syndrome Sjögren-Larsson Syndrome Niemann-Pick Disease Type C Mevalonate Kinase Deficiency Mevalonic Aciduria Hyperimmunoglobulinemia D with Periodic Fever Syndrome Cerebrotendinous Xanthomatosis Sitosterolemia	[ go to web site ] [ Study Information ]
	[+] Urea Cycle Disorders Consortium N-Acetylglutamate Synthase (NAGS) Deficiency Carbamyl Phosphate 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	[ go to web site ] [ en español ] [ study information ]
	[+] Vasculitis Clinical Research Consortium Churg-Strauss Syndrome (CSS) Giant Cell (Temporal) Arteritis (GCA) Granulomatosis with Polyangiitis (Wegener's) (GPA) Microscopic Polyangiitis (MPA) Polyarteritis Nodosa (PAN) Takayasu's Arteritis (TAK)	[ go to web site ] [ study information ]

	[+] Angelman, Rett, and Prader-Willi Syndromes Consortium Angelman Syndrome Rett Syndrome Prader-Willi Syndrome	[ go to web site ] [ study information ]
	[+] 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)	[ go to web site ] [ Study Information ]
	[+] 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)	[ go to web site ] [ Study Information ]
	[+] CINCH: Clinical Investigation of Neurologic Channelopathies Andersen-Tawil syndrome episodic ataxias non-dystrophic myotonic disorders	[ go to web site ] [ en español ] [ study information ]
	[+] Clinical Research Consortium for Spinocerebellar Ataxias Spinocerebellar ataxia: Ataxia telangiectasia Ataxia with oculomotor apraxia (AOA) type 1 Ataxia with oculomotor apraxia (AOA) type 2 Ataxia with vitamin E deficiency (AVED) Ataxia, unknown cause Autosomal recessive ataxia of Charlevoix-Saguenay (ARSACS) Dentatorubral-pallidoluysian atrophy (DRPLA) Fragile X tremor-ataxia syndrome (FXTAS) Friedreich's ataxia GAD ataxia Gluten ataxia Mitochondrial ataxia Mitochondrial recessive ataxia syndrome (MIRAS; POLG mutation) Multiple system atrophy-cerebellar type (MSA-C) Olivopontocerebellar atrophy (OPCA) Paraneoplastic ataxia Spinocerebellar ataxia 1(SCA1) Spinocerebellar ataxia 2(SCA2) Spinocerebellar ataxia 3(SCA3/Machado Joseph disease/MJD) Spinocerebellar ataxia 4(SCA4) Spinocerebellar ataxia 5(SCA5) Spinocerebellar ataxia 6(SCA6) Spinocerebellar ataxia 7(SCA7) Spinocerebellar ataxia 8(SCA8) Spinocerebellar ataxia 10(SCA10) Spinocerebellar ataxia 11(SCA11) Spinocerebellar ataxia 12(SCA12) Spinocerebellar ataxia 13(SCA13) Spinocerebellar ataxia 14(SCA14) Spinocerebellar ataxia 15(SCA15) Spinocerebellar ataxia 16(SCA16) Spinocerebellar ataxia 17(SCA17) Spinocerebellar ataxia 18(SCA18) Spinocerebellar ataxia 19(SCA19) Spinocerebellar ataxia 20(SCA20) Spinocerebellar ataxia 21(SCA21) Spinocerebellar ataxia 22(SCA22) Spinocerebellar ataxia 23(SCA23) Spinocerebellar ataxia 24(SCA24); SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4; SCAR4 Spinocerebellar ataxia 25(SCA25) Spinocerebellar ataxia 26(SCA26) Spinocerebellar ataxia 27(SCA27) Spinocerebellar ataxia 28(SCA28) Spinocerebellar ataxia 29(SCA29) Spinocerebellar ataxia 31(SCA31) Sporadic ataxia (onset before 20 years) Sporadic ataxia (onset between 20-50 years) Sporadic ataxia (onset after 50 years)	[ go to web site ] [ study information ]
	[+] Chronic Graft Versus Host Disease Consortium (cGVHD) Cutaneous Sclerosis Bronchiolitis Obliterans Late Acute Graft versus Host Disease Chronic Graft versus Host Disease	[ Consortium Information ] [ Study Information ]
	[+] Dystonia Coalition cervical dystonia blepharospasm spasmodic dysphonia craniofacial dystonia limb dystonia	[ go to web site ] [ Study Information ]
	[+] Genetic Disorders of Mucociliary Clearance Primary Ciliary Dyskinesia (PCD) Cystic Fibrosis Pseudohypoaldosteronism (PHA)	[ go to web site ] [ study information ]
	[+] 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	[ go to web site ] [ study information ]
	[+] Lysosomal Disease Network Aspartylglucosaminuria Batten disease Batten disease: late infantile Bone Disease in the MPS Cystinosis Danon disease Fabry Disease Farber disease Fucosidosis GM1-Gangliosidosis types I/II/III GM2-Gangliosidosis Galactosialidosis types I / II Gaucher disease Glycoproteinoses Hunter syndrome Hurler syndrome I-cell disease Krabbe disease Late Infantile Neuronal Ceroid Lipofuscinosis Maroteaux-Lamy syndrome Metachromatic leukodystrophy Morquio syndrome Mucolipidosis Type IV Mucopolysaccharidoses (MPS) Mucopolysaccharidosis type IX Multiple sulfatase deficiency Niemann-Pick disease Northern Epilepsy Pompe Disease Pycnodysostosis Sandhoff disease Sanfilippo syndrome A Sanfilippo syndrome B Sanfilippo syndrome C Sanfilippo syndrome D Scheie syndrome Schindler disease Sialidosis types I / II Sialuria, Salla disease Sly syndrome Tay-Sachs disease Vogt-Spielmeyer disease Wolman Disease alpha-Mannosidosis types I / II beta-Mannosidosis pseudo-Hurler polydystrophy	[ Consortium Information ] [ Study Information ]

Former Partners of the Rare Diseases Clinical Research Network

[+] Rare Lung Diseases Consortium (RLDC)
- Hereditary Interstitial Lung Disease (hILD)
- Lymphangioleiomyomatosis (LAM)
- Pulmonary Alveolar Proteinosis (PAP)
- Alpha-1 Antitrypsin Deficiency (Alpha-1)

[ go to web site ]

[ Contact this Consortium ]

[ More Information ]

[+] Rare Thrombotic Diseases Consortium (RTDC)
- Antiphospholipid Antibody Syndromes (APS)
- Heparin-induced Thrombocytopenia (HIT)
- Paroxysmal Nocturnal Hemoglobinuria (PNH)
- Catastrophic Antiphospholipid Antibody Syndrome (Thrombotic Storm)
- Thrombotic Thrombocytopenic Purpura (TTP)

[ go to web site ]

[ Contact this Consortium ]

[ More Information ]

[+] Bone Marrow Failure Consortium (BMFC)
- Aplastic Anemia
- Myelodysplastic Syndromes
- Paroxysmal Nocturnal Hemoglobinuria (PNH)
- Large Granular Lymphocyte (LGL) Leukemia
- Single Lineage Cytopenias:
  - Pure Red Cell Aplasia
  - Amegakaryocytic Thrombocytopenic Purpura
  - Autoimmune Neutropenia

[ Contact this Consortium ]

[ More Information ]

[+] Cholestatic Liver Disease Consortium (CLiC)

[ go to web site ]

[ Contact this Consortium ]

[ More Information ]

[+] Rare Genetic Steroid Disorders Consortium (RGSDC)
- Disorders of Androgen Excess:
  - 21-Hydroxylase deficiency
  - 11b-Hydroxylase deficiency
- Disorders of Androgen Synthesis or Action:
  - Steroid 17a-Hydroxylase deficiency
  - Steroid 17b-Hydroxysteroid dehydrogenase deficiency
  - Androgen Receptor Defects
  - 5a-Reductase 2 deficiency
  - Steroid 3b-Hydroxysteroid dehydrogenase deficiency
- Low-Renin Hypertension:
  - Apparent Mineralocorticoid Excess

[ Contact this Consortium ]

[ More Information ]

Are YOU Interested in Research on Rare Diseases?

Have study information sent right to your inbox!

Receive the most current information on:

YOU can help in the fight against rare diseases

Spotlight on Rare Diseases

Quarterly Newsletter of the NIH Rare Diseases Clinical Research Network

Past Events

2nd Conference on Clinical Research on Rare Diseases

Network Resources

Who are We?

Former Partners of the Rare Diseases Clinical Research Network

About the RDCRN

2nd Conference on
Clinical Research
on Rare Diseases