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.

Bone Marrow Failure Consortium (BMFC)

Diseases Researched:

  • 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

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
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

Cholestatic Liver Disease Consortium (CLiC is Now 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.

URL: www.childrennetwork.org

Diseases Researched:

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

E-mail: joan.hines@childrenscolorado.org

CINCH: Clinical Investigation of Neurologic Channelopathies

URL: www.rdcrn.org/CINCH

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

E-mail: Kim_Hart@urmc.rochester.edu

Clinical Research Consortium for Spinocerebellar Ataxias

URL: For information regarding future ataxia research, please visit the National Ataxia Foundation (NAF) website www.ataxia.org

Diseases Researched

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

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

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

Rare Lung Diseases Consortium (RLDC)

Diseases Researched:

  • Hereditary Interstitial Lung Disease (hILD)
  • Lymphangioleiomyomatosis (LAM)
  • Pulmonary Alveolar Proteinosis (PAP)
  • Alpha-1 Antitypes (Alpha-1)

For more information, please contact:

Leslie Korbee
Project Manager
Cincinnati Children's Hospital Medical Center
Translational Research Trials Office
3333 Burnet Avenue, MLC 2022
Cincinnati, OH 45229
Phone: 513-636-6272

E-mail: Leslie.Korbee@cchmc.org

Bethany Barnett
Rare Lung Diseases Consortium Principal Research Coordinator
Phone: 1-800-825-7421 x237

E-mail: bbarnett@alphaone.org

 

Rare Genetic Steroid Disorders Consortium (RGSDC)

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

E-mail: maria.new@mssm.edu

 
 

Rare Thrombotic Diseases Consortium (RTDC)

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

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

E-mail: Sharon.hall@duke.edu