Learn more about our currently funded rare diseases research groups (consortia)
How do I find the rare diseases research group that studies my disease or disorder?
If you are having trouble finding which rare diseases research group is studying your disease or disorder, use our rare disease search tool.
I want to participate in a study. Am I guaranteed to be enrolled?
Please contact a participating clinical center to see if you can be enrolled.
Study Name
This study is for the following Disease/Disorder(s)
Study Name
This study is for the following Disease/Disorder(s)
Study Name
This study is for the following Disease/Disorder(s)
Congenital and Perinatal Infections Rare Diseases Clinical Research Consortium (CPIC)
www.rarediseasesnetwork.org/cpirdcrc
Diseases Studies
Study Name
This study is for the following Disease/Disorder(s)
Study Name
This study is for the following Disease/Disorder(s)
Study Name
This study is for the following Disease/Disorder(s)
Frontiers in Congenital Disorders of Glycosylation (FCDGC)
www.rarediseasesnetwork.org/fcdgc
Diseases Studies
Study Name
This study is for the following Disease/Disorder(s)
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
www.rarediseasesnetwork.org/gliactn
Diseases Studies
Study Name
This study is for the following Disease/Disorder(s)
- 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
Study Name
This study is for the following Disease/Disorder(s)
Study Name
This study is for the following Disease/Disorder(s)
- AID: Aminoglycoside-Induced Deafness
- Alpers syndrome
- Barth 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 Hereditary Optic Neuropathy
- Leber Hereditary Optic Neuropathy Plus (LHON-plus)
- MELAS: Mitochondrial Encephalopathy Lactic Acidosis with Stroke-like Episodes
- MERRF: Myoclonus Epilepsy Ragged-red
- 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
- Pyruvate Dehydrogenase Complex Deficiencies
- 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
Study Name
This study is for the following Disease/Disorder(s)
Phenylalanine Families and Researchers Exploring Evidence (PHEFREE)
www.rarediseasesnetwork.org/pfree
Diseases Studies
- Acute Intermittent Porphyria (AIP)
- Congenital Erythropoietic Porphyria (CEP)
- Aminolevulinate Dehydratase Deficiency Porphyria (ADP)
- Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP)
- Hepatoerythropoietic Porphyria (HEP)
- Hereditary Coproporphyria (HCP)
- Porphyria Cutanea Tarda (PCT)
- Variegate Porphyria (VP)
Study Name
This study is for the following Disease/Disorder(s)
Study Name
This study is for the following Disease/Disorder(s)
- Arginase Deficiency (Hyperargininemia)
- Argininosuccinate Lyase Deficiency (Argininosuccinic Aciduria)
- Argininosuccinate Synthetase Deficiency (Citrullinemia I)
- Carbamyl Phosphate Synthetase (CPS) Deficiency
- Citrin Deficiency (Citrullinemia II)
- N-Acetylglutamate Synthase (NAGS) Deficiency
- Ornithine Transcarbamylase (OTC) Deficiency
- Ornithine Translocase Deficiency (HHH) Syndrome
Study Name
This study is for the following Disease/Disorder(s)
- Aortitis
- Behçet's disease
- Central nervous system (CNS) vasculitis
- Cryoglobulinemic vasculitis
- Cutaneous Vasculitis
- Drug-Induced Vasculitis (DIV)
- Eosinophilic Granulomatosis with Polyangiitis (Churg-Strauss)
- Giant Cell (Temporal) Arteritis (GCA)
- Granulomatosis with Polyangiitis (Wegener's) (GPA)
- Henoch-Schonlein purpura (HSP)
- Microscopic Polyangiitis (MPA)
- Polyarteritis Nodosa (PAN)
- Takayasu's Arteritis (TAK)
- Urticarial vasculitis
Study Name
This study is for the following Disease/Disorder(s)
Additional RDCRN Partners
- Autoimmune pulmonary alveolar proteinosis (aPAP)
- Birt-Hogg-Dubé Syndrome (BHD)
- Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia (DIPNECH)
- Hereditary pulmonary alveolar proteinosis (hPAP)
- Hermansky-Pudlak Syndrome (HPS)
- Lymphangioleiomyomatosis (LAM)
- Pulmonary Langerhans Cell Histiocytosis (PLCH)
Study Name
This study is for the following Disease/Disorder(s)
Study Name
This study is for the following Disease/Disorder(s)
- Cerebrotendinous Xanthomatosis (CTX)
- Dolichol Metabolism Disorders (DMDs)
- Methylsterol oxidase deficiency (MOD)
- Mevalonate Kinase Deficiency (MKD)
- Peroxisome Biogenesis Disorders
- Sitosterolemia
- Sjögren-Larsson Syndrome (SLS)
- Smith-Lemli-Opitz Syndrome (SLOS)
- Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD)
Study Name
This study is for the following Disease/Disorder(s)
Prior RDCRN Partners
The consortium you are looking for may no longer be a member of the Rare Diseases Clinical Research Network. It is important to the RDCRN that information on any current research by our former partners continue to be available to our patients and families.
Below is the most current information we have for available web sites and points of contact so that you may continue to be in contact with your rare disease consortium.
Diseases Researched:
- Behavioral variant frontotemporal dementia (bvFTD)
- Corticobasal degeneration (CBD)
- Corticobasal syndrome (CBS)
- Frontotemporal dementia with amyotrophic lateral sclerosis (FTD/ALS)
- Frontotemporal lobar degeneration (FTLD)
- Nonfluent variant primary progressive aphasia (nfvPPA)
- Primary progressive aphasia (PPA)
- Progressive supranuclear palsy (PSP)
- Pure akinesia with gait freezing (PAGF)
- Semantic variant primary progressive aphasia (svPPA)
Diseases Researched:
- Angelman Syndrome
- Rett Syndrome
- Prader-Willi Syndrome
About the ARPWSC
Rett Syndrome is now being studied by the Rett Syndrome, MECP2 Duplications, & Rett-related Disorders Consortium.
For information on Prader-Willi Syndrome, please see tab below.
For more information on Angelman Syndrome, please contact
Lynne M. Bird MD
Office: 216-444-9017
Fax: 216-636-2498
Email: lbird@rchsd.org
Diseases Researched:
- Autoimmune Autonomic Ganglionopathy
- Baroreflex Failure
- Dopamine Beta Hydroxylase Deficiency
- Familial Dysautonomia
- Hypovolemic Postural Tachycardia Syndrome
- Lewy Body Disease
- Multiple System Atrophy
- Neurally Mediated Syncope
- Norepinephrine Transporter Dysfunction
- Parkinsonism with Autonomic Failure
- Pheochromocytoma
- Pure Autonomic Failure
- Takotsubo Syndrome
Diseases Researched:
- Aplastic anemia
- Myelodysplastic syndromes
- Paroxysmal nocturnal hemoglobinuria (PNH)
- Large granular lymphocyte (LGL) leukemia
- Single lineage Cctopenias:
- Pure red cell aplasia
- Amegakaryocytic thrombocytopenic purpura
- Autoimmune neutropenia
For more information, please contact:
John Pellecchia, MS
Administrator
Department of Translational Hematology and Oncology Research
Taussig Cancer Institute
Cleveland Clinic
9500 Euclid Avenue/Desk R40
Cleveland, OH44195
Office: 216-444-9017
Fax: 216- 636-2498
Email: pellecj@ccf.org
For Patient Advocacy, Education & Referral Contact:
Leigh Clark
Patient Educator
Aplastic Anemia & MDS International Foundation, Inc.
Office: 800-747-2820
Fax:410-867-4560
Email: clark@aamds.org
About ChiLDREN:
The Cholestatic Liver Disease Consortium (CLiC) is now part of ChiLDREN, the Childhood Liver Disease Research and Education Network. The new and expanded network combines CLiC and the Biliary Atresia Research Consortium (BARC), as well as new studies on cystic fibrosis liver disease. This consolidation seeks to facilitate the discovery of new diagnostics, etiologic, and treatment options for children with rare liver diseases, and those who undergo liver transplantation, and to train the next generation of investigators in rare pediatric liver diseases.
Diseases Researched:
- Alagille syndrome
- Alpha-1-antitrypsindeficiency
- Bile acid synthesis and metabolism defects
- Biliary atresia
- Cystic fibrosis liver disease
- Idiopathic neonatal hepatitis
- Mitochondrial hepatopathies
- Progressive familial intrahepatic cholestasis
For more information, please contact:
Joan M. Hines, MPH
Children's Hospital Colorado
Section of Pediatric Gastroenterology/Hepatology/Nutrition
13123 East 16th Avenue, B290
Aurora, Colorado 80045
720-777-2598 phone
720-777-7351 fax
Email: joan.hines@childrenscolorado.org
Diseases Researched:
- Bronchiolitis Obliterans
- Chronic Graft versus Host Disease
- Cutaneous Sclerosis
- Late Acute Graft versus Host Disease
For more information, please contact:
Kate Chilson
PO Box 19024
FHCRC
Seattle, WA 98109-1024
Office: 206-667-6069
Fax: 206-667-4336
Email: chronicGVHDstudies@fredhutch.org
Diseases Researched:
- Andersen-Tawil syndrome
- Episodic ataxias
- Non-dystrophic myotonic disorders
For more information, please contact:
Kimberly Hart, MA
Sr. Information Analyst
FOR-DMD Contracts and Regulatory Manager
Room 2101
University of Rochester Medical Center
Neuro-Central Admin Research
Channelopathy and Muscle Study Projects
265 Crittenden Blvd
CU 420669
Rochester, NY 14642-0669
Office: 585-275-3767
Fax: 585-276-2056
Email: Kim_Hart@urmc.rochester.edu
URL: www.rdcrn.org/CINCH
Diseases Researched:
- Spinocerebellar ataxia 1(SCA1)
- Spinocerebellar ataxia 2(SCA2)
- Spinocerebellar ataxia 3(SCA3/Machado Joseph disease/MJD)
- Spinocerebellar ataxia 6(SCA6)
Research Studies:
For more information on the clinical study: Natural History of and Genetic Modifiers in Spinocerebellar Ataxias, please visit ClinicalTrials.gov
For more information, please contact:
Dr. Tetsuo Ashizawa, MD
ashizawa@ufl.edu
Dr. S.H. Subramony, MD
s.subramony@neurology.ufl.edu
University of Florida
100 S Newell Dr, L3-100
Gainesville, FL 32611
URL: For information regarding future ataxia research, please visit the National Ataxia Foundation (NAF) website www.ataxia.org
Diseases Researched:
- Prader-Willi Syndrome
For more information, please contact:
Beverly P. Giordano, ARNP
Clinical Research Coordinator
Division of Pediatric Genetics
Department of Pediatrics
University of Florida
Office: 352-294-5280
Email: bgiordano@peds.ufl.edu
Diseases Researched:
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
For more information, please contact:
Maria I. New, MD
Professor of Pediatrics
Pediatric Endocrinology
Director, Adrenal Steroid Disorders Program
The Mount Sinai School of Medicine
One Gustave L. Levy Place, Box 1198
New York NY 10029-6574
Email: maria.new@mssm.edu
Diseases Researched:
- CYP24A1 Associated Disease
- APRT deficiency (Dihydroxyadeninuria)
- Cystinuria
- Dent disease
- Lowe Syndrome
- primary hyperoxaluria
Diseases Researched:
- Antiphospholipid antibody syndromes (APS)
- Heparin-induced thrombocytopenia (HIT)
- Paroxysmal nocturnal hemoglobinuria (PNH)
- Catastrophic antiphospholipid antibody syndrome (thrombotic storm)
- Thrombotic thrombocytopenic purpura (TTP)
For more information, please contact:
Sharon Hall
Research Analyst
Hemostasis and Thrombosis Research Center
Duke University Health System
P.O. Box 3422 DUMC
315 Trent Dr. Rm 273
Durham, NC 27710
Lab: 919-668-6329
Office: 919-681-9565
Fax: 919-681-6531
Email: Sharon.hall@duke.edu
Diseases Researched:
- Mucoepidermoid carcinoma (MEC)
- Adenoid cystic carcinoma (ACC)
- Adenocarcinoma salivary duct carcinoma (AC)
For more information, please contact:
Adel El-Naggar MD, PhD
University of Texas MD Anderson Cancer Center
1515 Holcombe Boulevard, Unit 85, G1.3561A
Houston, TX, 77030-4009
Fax: 713-792-5532
Email: anaggar@mdanderson.org