Who we are

Learn more about the currently funded research consortia of the Rare Diseases Clinical Research Network, an initiative of ORDR, NCATS.

How to find the research consortium studying your disease or disorder: Use the menu below to view the diseases or disorders being studied by each consortium. Clicking on a disease or disorder name will take you directly to a description of that disease or disorder provided by the consortium that studies it.

See a list of our former partners >

For addtional information on a specified disease, click the disease link associated with that study, or use our disease search tool.

Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.

Former Partners of the Rare Diseases Clinical Research Network

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.

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.

Lynne M. Bird MD

Office: 216-444-9017
Fax: 216-636-2498

E-mail: lbird@rchsd.org


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

  • 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

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

E-mail: 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

E-Mail: clark@aamds.org

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.

  • 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

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

E-mail: joan.hines@childrenscolorado.org


URL: www.childrennetwork.org

  • Andersen-Tawil syndrome
  • Episodic ataxias
  • Non-dystrophic myotonic disorders

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

E-mail: Kim_Hart@urmc.rochester.edu


URL: www.rdcrn.org/CINCH

  • Spinocerebellar ataxia 1(SCA1)
  • Spinocerebellar ataxia 2(SCA2)
  • Spinocerebellar ataxia 3(SCA3/Machado Joseph disease/MJD)
  • Spinocerebellar ataxia 6(SCA6)

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

 

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

  • Antiphospholipid antibody syndromes (APS)
  • Heparin-induced thrombocytopenia (HIT)
  • Paroxysmal nocturnal hemoglobinuria (PNH)
  • Catastrophic antiphospholipid antibody syndrome (thrombotic storm)
  • Thrombotic thrombocytopenic purpura (TTP)

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

E-mail: Sharon.hall@duke.edu


URL: http://htc.medicine.duke.edu

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

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

E-mail: maria.new@mssm.edu

The Prader-Willi Syndromes 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 PWSC.

  • Prader-Willi Syndrome

8208: Oxytocin Trial for Prader-Willi Syndrome

The RDCRN Contact Registry is a method by which patients with rare diseases can register themselves with the RDCRN in order to be contacted in the future about clinical research opportunities and updates on the progress of the research projects. The contact registry is anonymous and free of charge.

You (or your child) are invited to participate in a research project that will develop a nation-wide contact registry for patients.

Christine Keeling, RN, BSN
University of Florida
College of Medicine
Pediatrics Genetics
PO box 100296
Gainesville, FL 32610-0296

Office: 352-294-5280
Fax: 352-392-4049

E-mail: ckeeling@peds.ufl.edu

  • Mucoepidermoid carcinoma (MEC)
  • Adenoid cystic carcinoma (ACC)
  • Adenocarcinoma salivary duct carcinoma (AC)

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