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)

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)

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)

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)

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)

Additional RDCRN Partners

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

URL: www.angelman.org & www.cureangelman.org

Diseases Researched:

  • Autoimmune Autonomic Ganglionopathy
  • Baroreflex Failure
  • Congenital Autonomic Disorders
  • Congenital Norepinephrine Deficiency due to CYB561 Mutations
  • Dopamine Beta Hydroxylase Deficiency
  • Familial Autonomic Ganglionopathy
  • Familial Dysautonomia
  • Lewy Body Disease
  • Multiple System Atrophy
  • Norepinephrine Transporter Deficiency
  • Parkinson's Disease with Autonomic Failure
  • 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

URL: www.childrennetwork.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

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

clinicaltrials.gov/ct2/show/NCT01060371

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:

  • Alpha-1 antitrypsin deficiency
  • Autoimmune Pulmonary Alveolar Proteinosis (aPAP)
  • Birt-Hogg-Dube Syndrome (BHD)
  • Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia (DIPNECH)
  • GLA/lymphangiomatosis
  • Hereditary Pulmonary Alveolar Proteinosis (hPAP)
  • Hermansky-Pudlak Syndrome (HPS)
  • Lymphangioleiomyomatosis (LAM)
  • Pulmonary Alveolar Microlithiasis (PAM)
  • Pulmonary Langerhans Cell Histiocytosis (PLCH)
  • Secondary Pulmonary Alveolar Proteinosis (sPAP)

For more information, please contact:

Brenna Carey, MS, PhD
Program Manager
Division of Pulmonary Biology and Neonatology
3333 Burnet Avenue
Cincinnati, Ohio 45229
Phone : (513)-636-8916
Fax : (513)-636-3723
Email: Brenna.Carey@cchmc.org

Visit our website at https://www1.rarediseasesnetwork.org/cms/rld

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

URL: http://htc.medicine.duke.edu

Diseases Researched:

  • CDKL5 mutation
  • FOXG1 mutation
  • MECP2 Duplications
  • MECP2 mutations not associated with Rett syndrome (non-RTT MECP2 mutations)
  • Rett Syndrome — Typical/Classic

For more information, please contact:

Jane Lane, RN, BSN
Consortium Project Manager
University of Alabama at Birmingham
Phone : (205)-934-1130
Fax : (205)-975-6330
Email: jlane@uab.edu

Visit our website at https://www1.rarediseasesnetwork.org/cms/rett

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