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NCRR's Division for Clinical Research Resources provides funding to biomedical research institutions to establish and maintain specialized clinical research facilities and clinical-grade biomaterials that enable clinical and patient-oriented research.

NCRR's Division for Clinical Research Resources provides funding to biomedical research institutions to establish and maintain specialized clinical research facilities and clinical-grade biomaterials that enable clinical and patient-oriented research.

NCRR's Division for Clinical Research Resources provides funding to biomedical research institutions to establish and maintain specialized clinical research facilities and clinical-grade biomaterials that enable clinical and patient-oriented research.

NCRR's Division for Clinical Research Resources provides funding to biomedical research institutions to establish and maintain specialized clinical research facilities and clinical-grade biomaterials that enable clinical and patient-oriented research.

NCRR's Division for Clinical Research Resources provides funding to biomedical research institutions to establish and maintain specialized clinical research facilities and clinical-grade biomaterials that enable clinical and patient-oriented research.
NCRR Home > Clinical Research Resources > Resource Directory > Rare Disease Clinical Research Network > NIH Rare Diseases Clinical Research Network - Study List

NIH Rare Diseases Clinical Research Network - Study List

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These NIH Rare Diseases Clinical Research Network (RDCRN) studies—organized by city—have been approved to open as of May 1, 2006. Additional studies are being planned. Please note that each study is taking place at multiple sites.

Centers (By City)

Atlanta, GA

Study site: Centers for Disease Control and Prevention


    Principal Investigator: W. Craig Hooper, Ph.D.


    Study title: Genetics of Antiphospholipid Antibody Syndrome (APS)


    Disease category: Thrombotic Disease Clinical Research Consortium


Baltimore, MD

Study site: The Johns Hopkins Vasculitis Center


    Principal Investigator: John Stone, M.D., M.P.H.


    Study title: VCRC Longitudinal Protocol for Giant Cell Arteritis


    Study title: VCRC Longitudinal Protocol for Takayasu's Arteritis


    Study title: VCRC Longitudinal Protocol for Polyarteritis Nodosa


    Study title: VCRC Longitudinal Protocol for Churg-Strauss Syndrome


    Study title: VCRC Longitudinal Protocol for Wegener's Granulomatosis and Microscopic Polyangiitis


    Disease category: Vasculitis Clinical Research Consortium


Bethesda, MD

Study site: National Institutes of Health, NINDS, Neuromuscular Diseases Section


    Principal Investigator: Marinos Dalakas, M.D.


    Study title: Andersen-Tawil Syndrome (ATS): Genotype-Phenotype Correlation and Longitudinal Study


    Study title: Episodic Ataxia Syndrome (EA): Genotype-Phenotype Correlation and Longitudinal Study


    Study title: Nondystrophic Myotonias (NDM): Genotype-Phenotype Correlation and Longitudinal Study


    Disease category: Vasculitis Clinical Research Consortium


Study site: National Institutes of Health


    Principal Investigator: Joel Moss, M.D., Ph.D.


    Study title: Rare Diseases Clinical Research Network Multicenter International Lymphangioleiomyomatosis Efficacy of Sirolimus Trial (The MILES Trial)


    Disease category: Lung Disease Consortium


Birmingham, AL

Study site: University of Alabama at Birmingham


    Principal Investigator: Alan Percy, M.D.


    Study title: Rett Syndrome Natural History Clinical Protocol


    Disease category: Angelman, Rett, & Prader-Willi Syndrome Consortium


Boston, MA

Study site: Children's Hospital Boston


    Principal Investigator: Virginia Kimonis, M.D.


    Study title: Angelman's Syndrome Natural History


    Study title: Efficacy of a Therapeutic Treatment Trial in Angelman Syndrome


    Disease category: Angelman, Rett, & Prader-Willi Syndrome Consortium


Study site: Harvard/Brigham and Womens Hospital


    Principal Investigator: Anthony Amato, M.D.


    Study title: Andersen-Tawil Syndrome (ATS): Genotype-Phenotype Correlation and Longitudinal Study


    Study title: Episodic Ataxia Syndrome (EA): Genotype-Phenotype Correlation and Longitudinal Study


    Study title: Nondystrophic Myotonias (NDM): Genotype-Phenotype Correlation and Longitudinal Study


    Disease category: Neurologic Channelopathies Consortium


Study site: Boston University School of Medicine


    Principal Investigator: Peter Merkel, M.D., M.P.H.


    Study title: VCRC Longitudinal Protocol for Giant Cell Arteritis


    Study title: VCRC Longitudinal Protocol for Takayasu's Arteritis


    Study title: VCRC Longitudinal Protocol for Polyarteritis Nodosa


    Study title: VCRC Longitudinal Protocol for Wegener's Granulomatosis and Microscopic Polyangiitis


    Study title: VCRC Longitudinal Protocol for Churg-Strauss Syndrome


    Disease category: Vasculitis Clinical Research Consortium


Chapel Hill, NC

Study site: University of North Carolina


    Principal Investigator: Robert Roubey, M.D.


    Study title: Genetics of Antiphospholipid Antibody Syndrome (APS)


    Disease category: Thrombotic Disease Clinical Research Consortium


Study site: University of North Carolina at Chapel Hill


    Principal Investigator: Michael Knowles, M.D.


    Study title: Rare Genetic Disorders of the Airways: Cross-sectional Comparison of Clinical Features, and Development of Novel Screening and Genetic Tests


    Disease category: Genetic Diseases of Mucociliary Clearance Consortium


Charleston, SC

Study site: Medical University of South Carolina


    Principal Investigator: Charlie Strange, M.D.


    Study title: Rare Diseases Clinical Research Network Multicenter International Lymphangioleiomyomatosis Efficacy of Sirolimus Trial (The MILES Trial)


    Disease category: Lung Disease Consortium


Cincinnati, OH

Study site: Cincinnati Children's Hospital Medical Center


    Principal Investigator: Bruce Trapnell, M.D.


    Study title: Rare Diseases Clinical Research Network Multicenter International Lymphangioleiomyomatosis Efficacy of Sirolimus Trial (The MILES Trial)


    Disease category: Lung Disease Consortium


Study site: University of Cincinnati Medical Center


    Principal Investigator: Frank McCormack, M.D.


    Study title: Rare Diseases Clinical Research Network Multicenter International Lymphangioleiomyomatosis Efficacy of Sirolimus Trial (The MILES Trial)


    Disease category: Lung Disease Consortium


Cleveland, OH

Study site: University Hospitals of Cleveland Rainbow Babies and Children's Hospital


    Principal Investigator: Douglass Kerr, M.D., Ph.D.


    Study title: Longitudinal Study of Urea Cycle Disorders


    Disease category: Urea Cycle Disorders Consortium


Study site: Cleveland Clinic Foundation/Case Western University


    Principal Investigator: Jaroslaw Maciejewski, M.D., Ph.D.


    Study title: Screening Protocol and Longitudinal Study Of Bone Marrow Failure Syndromes And Cytopenias


    Study title: A Phase 2 Study of R115777 in Large Granular Lymphocyte (LGL) Leukemia


    Study title: A Phase I/II Trial of Sirolimus (Rapamune) and Cyclosporine in Patients with Refractory Aplastic Anemia


    Study title: A Phase I Study of Revlimid in Combination with Azacitidine in Patients with Advanced Myelodysplastic Syndrome (MDS)


    Disease category: Bone Marrow Failure Disease Consortium


Study site: Cleveland Clinic Foundation/Case Western University


    Principal Investigator: Carol Langford, M.D.


    Study title: VCRC Longitudinal Protocol for Giant Cell Arteritis


    Study title: VCRC Longitudinal Protocol for Takayasu's Arteritis


    Study title: VCRC Longitudinal Protocol for Polyarteritis Nodosa


    Study title: VCRC Longitudinal Protocol for Wegener's Granulomatosis and Microscopic Polyangiitis


    Study title: VCRC Longitudinal Protocol for Churg-Strauss Syndrome


    Disease category: Vasculitis Clinical Research Consortium


Study site: Cleveland Clinic Foundation/Case Western University


    Principal Investigator: James Stoller, M.D.


    Study title: Rare Diseases Clinical Research Network Multicenter International Lymphangioleiomyomatosis Efficacy of Sirolimus Trial (The MILES Trial)


    Disease category: Lung Disease Consortium


Dallas, TX

Study site: University of Texas Southwestern at Dallas


    Principal Investigator: Jaya Trivedi, M.D.


    Study title: Andersen-Tawil Syndrome (ATS): Genotype-Phenotype Correlation and Longitudinal Study


    Disease category: Neurologic Channelopathies Consortium


Study site: University of Texas Southwestern at Dallas


    Principal Investigator: Stephen Cannon, M.D., Ph.D.


    Study title: Episodic Ataxia Syndrome (EA): Genotype-Phenotype Correlation and Longitudinal Study


    Study title: Nondystrophic Myotonias (NDM): Genotype-Phenotype Correlation and Longitudinal Study


    Disease category: Neurologic Channelopathies Consortium


Denver, CO

Study site: The Children's Hospital


    Principal Investigator: Scott Sagel, M.D.


    Study title: Rare Genetic Disorders of the Airways: Cross-sectional Comparison of Clinical Features, and Development of Novel Screening and Genetic Tests


    Disease category: Genetic Diseases of Mucociliary Clearance Consortium


Study site: National Jewish Medical & Research Center


    Principal Investigator: Kevin Brown, M.D., Ph.D.


    Study title: Rare Diseases Clinical Research Network Multicenter International Lymphangioleiomyomatosis Efficacy of Sirolimus Trial (The MILES Trial)


    Disease category: Lung Disease Consortium


Durham, NC

Study site: Duke


    Principal Investigator: Ian Welsby, M.D.


    Study title: The Incidence of Thromboembolic Events in Patients with Antibodies to Heparin-PF4 after Cardiac Bypass (HIT)


    Disease category: Thrombotic Disease Clinical Research Consortium


Study site: Duke


    Principal Investigator: Thomas Ortel, M.D.


    Study title: Genetics of Antiphospholipid Antibody Syndrome (APS)


    Disease category: Thrombotic Disease Clinical Research Consortium


Gainesville, FL

Study site: University of Florida College of Medicine


    Principal Investigator: Daniel Driscoll, M.D., Ph.D.


    Study title: Prader-Willi Syndrome and Early-onset Morbid Obesity Natural History Clinical Protocol


    Disease category: Angelman, Rett, & Prader-Willi Syndrome Consortium


Study site: University of Florida Health Sciences Center


    Principal Investigator: Mark Brantly, M.D.


    Study title: Rare Diseases Clinical Research Network Multicenter International Lymphangioleiomyomatosis Efficacy of Sirolimus Trial (The MILES Trial)


    Disease category: Lung Disease Consortium


Greenwood, SC

Study site: Greenwood Genetic Center


    Principal Investigator: Steve Skinner, M.D.


    Study title: Rett Syndrome Natural History Clinical Protocol


    Study title: Angelman's Syndrome Natural History


    Study title: Efficacy of a Therapeutic Treatment Trial in Angelman Syndrome


    Disease category: Angelman, Rett, & Prader-Willi Syndrome Consortium


Hershey, PA

Study site: Penn State University


    Principal Investigator: Thomas Loughran, M.D.


    Study title: Screening Protocol and Longitudinal Study Of Bone Marrow Failure Syndromes And Cytopenias


    Study title: A Phase 2 Study of R115777 in Large Granular Lymphocyte (LGL) Leukemia


    Study title: A Phase I/II Trial of Sirolimus (Rapamune) and Cyclosporine in Patients with Refractory Aplastic Anemia


    Study title: A Phase I Study of Revlimid in Combination with Azacitidine in Patients with Advanced Myelodysplastic Syndrome (MDS)


    Disease category: Bone Marrow Failure Disease Consortium


Houston, TX

Study site: Baylor College of Medicine


    Principal Investigator: Brendan Lee, M.D., Ph.D.


    Study title: Longitudinal Study of Urea Cycle Disorders


    Study title: The Effect of Sodium Phenylbutyrate (Buphenyl) Treatment on the Frequency of Hyperammonemia and Magnitude of Hepatic Transaminase, Argininosuccinate and Citrulline Levels in Patients with Argininosuccinic Aciduria (ASA)


    Disease category: Urea Cycle Disorders Consortium


Study site: Baylor College of Medicine


    Principal Investigator: Arthur Beaudet, M.D.


    Study title: Rett Syndrome Natural History Clinical Protocol


    Study title: Angelman's Syndrome Natural History


    Study title: Efficacy of a Therapeutic Treatment Trial in Angelman Syndrome


    Disease category: Angelman, Rett, & Prader-Willi Syndrome Consortium


Kansas City, MO

Study site: Children's Mercy Hospital


    Principal Investigator: Merlin Butler, M.D., Ph.D.


    Study title: Prader-Willi Syndrome and Early-onset Morbid Obesity Natural History Clinical Protocol


    Disease category: Angelman, Rett, & Prader-Willi Syndrome Consortium


Kansas City, KS

Study site: University of Kansas Medical Center


    Principal Investigator: Richard Barohn, M.D.


    Study title: Andersen-Tawil Syndrome (ATS): Genotype-Phenotype Correlation and Longitudinal Study


    Study title: Episodic Ataxia Syndrome (EA): Genotype-Phenotype Correlation and Longitudinal Study


    Study title: Nondystrophic Myotonias (NDM): Genotype-Phenotype Correlation and Longitudinal Study


    Disease category: Neurologic Channelopathies Consortium


London, Ontario (Canada)

Study site: London Health Sciences Centre, Canada


    Principal Investigator: Angelika Hahn, M.D.


    Study title: Andersen-Tawil Syndrome (ATS): Genotype-Phenotype Correlation and Longitudinal Study


    Study title: Nondystrophic Myotonias (NDM): Genotype-Phenotype Correlation and Longitudinal Study


    Disease category: Neurologic Channelopathies Consortium


London, UK

Study site: Institute of Neurology


    Principal Investigator: Michael Hanna, M.D.


    Study title: Andersen-Tawil Syndrome (ATS): Genotype-Phenotype Correlation and Longitudinal Study


    Study title: Episodic Ataxia Syndrome (EA): Genotype-Phenotype Correlation and Longitudinal Study


    Study title: Nondystrophic Myotonias (NDM): Genotype-Phenotype Correlation and Longitudinal Study


    Disease category: Neurologic Channelopathies Consortium


Los Angeles, CA

Study site: UCLA


    Principal Investigator: Stephen Cederbaum, M.D.


    Study title: Longitudinal Study of Urea Cycle Disorders


    Disease category: Urea Cycle Disorders Consortium


Study site: UCLA


    Principal Investigator: Robert Baloh, M.D.


    Study title: Episodic Ataxia Syndrome (EA): Genotype-Phenotype Correlation and Longitudinal Study


    Disease category: Neurologic Channelopathies Consortium


Study site: UCLA


    Principal Investigator: Ronald Paquette, M.D.


    Study title: Screening Protocol and Longitudinal Study Of Bone Marrow Failure Syndromes And Cytopenias


    Study title: A Phase 2 Study of R115777 in Large Granular Lymphocyte (LGL) Leukemia


    Study title: A Phase I/II Trial of Sirolimus (Rapamune) and Cyclosporine in Patients with Refractory Aplastic Anemia


    Study title: A Phase I Study of Revlimid in Combination with Azacitidine in Patients with Advanced Myelodysplastic Syndrome (MDS)


    Disease category: Bone Marrow Failure Disease Consortium


Madison, WI

Study site: University of Wisconsin


    Principal Investigator: Karen Hansen, M.D.


    Study title: Genetics of Antiphospholipid Antibody Syndrome (APS)


    Disease category: Thrombotic Disease Clinical Research Consortium


Nashville, TN

Study site: Vanderbilt University Medical Center


    Principal Investigator: Marshall Summar, M.D.


    Study title: Longitudinal Study of Urea Cycle Disorders


    Disease category: Urea Cycle Disorders Consortium


New Haven, CT

Study site: Yale University School of Medicine


    Principal Investigator: Margretta Seashore, M.D.


    Study title: Longitudinal Study of Urea Cycle Disorders


    Disease category: Urea Cycle Disorders Consortium


New York, NY

Study site: Mount Sinai Hospital


    Principal Investigator: George Diaz, M.D.


    Study title: Longitudinal Study of Urea Cycle Disorders


    Disease category: Urea Cycle Disorders Consortium


Orange, CA

Study site: University of California, Irvine


    Principal Investigator: Suzanne Cassidy, M.D.


    Study title: Prader-Willi Syndrome and Early-onset Morbid Obesity Natural History Clinical Protocol


    Disease category: Angelman, Rett, & Prader-Willi Syndrome Consortium


Osaka, Japan

Study site: Osaka/Nigata (International Medical Center of Japan, Tokyo, Japan)


    Principal Investigator: Yoshikazu Inoue, M.D.


    Study title: Rare Diseases Clinical Research Network Multicenter International Lymphangioleiomyomatosis Efficacy of Sirolimus Trial (The MILES Trial)


    Disease category: Lung Disease Consortium


Philadelphia, PA

Study site: Children's Hospital


    Principal Investigator: Marc Yudkoff, M.D.


    Study title: Longitudinal Study of Urea Cycle Disorders


    Disease category: Urea Cycle Disorders Consortium


Portland, OR

Study site: Oregon Health & Sciences University


    Principal Investigator: Alan Barker, M.D.


    Study title: Rare Diseases Clinical Research Network Multicenter International Lymphangioleiomyomatosis Efficacy of Sirolimus Trial (The MILES Trial)


    Disease category: Lung Disease Consortium


Rochester, NY

Study site: University of Rochester School of Medicine


    Principal Investigator: Rabi Tawil, M.D.


    Study title: Andersen-Tawil Syndrome (ATS): Genotype-Phenotype Correlation and Longitudinal Study


    Disease category: Neurologic Channelopathies Consortium


Study site: University of Rochester School of Medicine


    Principal Investigator: Robert Griggs, M.D.


    Study title: Episodic Ataxia Syndrome (EA): Genotype-Phenotype Correlation and Longitudinal Study


    Study title: Nondystrophic Myotonias (NDM): Genotype-Phenotype Correlation and Longitudinal Study


    Disease category: Neurologic Channelopathies Consortium


Rochester, MN

Study site: Mayo


    Principal Investigator: Eric Matteson, M.D., M.P.H.


    Study title: VCRC Longitudinal Protocol for Giant Cell Arteritis


    Study title: VCRC Longitudinal Protocol for Takayasu's Arteritis


    Study title: VCRC Longitudinal Protocol for Polyarteritis Nodosa


    Disease category: Vasculitis Clinical Research Consortium


Study site: Mayo


    Principal Investigator: Ulrich Specks, M.D.


    Study title: VCRC Longitudinal Protocol for Wegener's Granulomatosis and Microscopic Polyangiitis


    Study title: VCRC Longitudinal Protocol for Churg-Strauss Syndrome


    Disease category: Vasculitis Clinical Research Consortium


Study site: Mayo


    Principal Investigator: John Heit, M.D.


    Study title: Genetics of Antiphospholipid Antibody Syndrome (APS)


    Disease category: Thrombotic Disease Clinical Research Consortium


San Diego, CA

Study site: Children's Hospital


    Principal Investigator: Lynne Bird, M.D.


    Study title: Angelman's Syndrome Natural History


    Study title: Efficacy of a Therapeutic Treatment Trial in Angelman Syndrome


    Disease category: Angelman, Rett, & Prader-Willi Syndrome Consortium


San Francisco, CA

Study site: University of California at San Francisco


    Principal Investigator: Jeffrey Ralph, M.D.


    Study title: Andersen-Tawil Syndrome (ATS): Genotype-Phenotype Correlation and Longitudinal Study


    Disease category: Neurologic Channelopathies Consortium


Seattle, WA

Study site: Children's Hospital and Regional Medical Center


    Principal Investigator: Margaret Rosenfeld, M.D.


    Study title: Rare Genetic Disorders of the Airways: Cross-sectional Comparison of Clinical Features, and Development of Novel Screening and Genetic Tests


    Disease category: Genetic Diseases of Mucociliary Clearance Consortium


St. Louis, MO

Study site: Washington University


    Principal Investigator: Thomas Ferkol, M.D.


    Study title: Rare Genetic Disorders of the Airways: Cross-sectional Comparison of Clinical Features, and Development of Novel Screening and Genetic Tests


    Disease category: Genetic Diseases of Mucociliary Clearance Consortium


Tampa, FL

Study site: Moffitt Cancer Center


    Principal Investigator: Alan List, M.D.


    Study title: Screening Protocol and Longitudinal Study Of Bone Marrow Failure Syndromes And Cytopenias


    Study title: A Phase I/II Trial of Sirolimus (Rapamune) and Cyclosporine in Patients with Refractory Aplastic Anemia


    Study title: A Phase I Study of Revlimid in Combination with Azacitidine in Patients with Advanced Myelodysplastic Syndrome (MDS)


    Disease category: Bone Marrow Failure Disease Consortium


Study site: Moffitt Cancer Center


    Principal Investigator: Lubomir Sokol, M.D., Ph.D.


    Study title: A Phase 2 Study of R115777 in Large Granular Lymphocyte (LGL) Leukemia


    Disease category: Bone Marrow Failure Disease Consortium


Tyler, TX

Study site: University of Texas Health Center


    Principal Investigator: James Stocks, M.D.


    Study title: Rare Diseases Clinical Research Network Multicenter International Lymphangioleiomyomatosis Efficacy of Sirolimus Trial (The MILES Trial)


    Disease category: Lung Disease Consortium


Washington, DC

Study site: Children's National Medical Center


    Principal Investigator: Uta Lichter-Konecki, M.D.


    Study title: Longitudinal Study of Urea Cycle Disorders


    Disease category: Urea Cycle Disorders Consortium



Contact Information

For additional information on existing clinical research resources, contact:

Elaine S. Collier, M.D.
Assistant Director for Clinical Research
Division for Clinical Research Resources
National Center for Research Resources
National Institutes of Health
One Democracy Plaza, Room 918
6701 Democracy Boulevard, MSC 4874
Bethesda, Maryland 20892-4874 (20817 for express mail)
Telephone: 301-435-0794
Fax: 301-480-3661
E-mail: CollierE@mail.nih.gov
National Center for Research Resources • 6701 Democracy Boulevard MSC 4874 • Bethesda MD 20892-4874 • 301-435-0888
 
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