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NIH Rare Diseases Clinical Research Network - Study ListClinical Research Resources Links ON THIS PAGE: SEE ALSO: 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, GAStudy 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, MDStudy 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, MDStudy 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, ALStudy 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, MAStudy 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, NCStudy 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, SCStudy 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, OHStudy 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, OHStudy 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, TXStudy 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, COStudy 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, NCStudy 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, FLStudy 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, SCStudy 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, PAStudy 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, TXStudy 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, MOStudy 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, KSStudy 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, UKStudy 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, CAStudy 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, WIStudy 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, TNStudy 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, CTStudy 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, NYStudy 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, CAStudy 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, JapanStudy 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, PAStudy 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, ORStudy 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, NYStudy 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, MNStudy 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, CAStudy 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, CAStudy 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, WAStudy 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, MOStudy 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, FLStudy 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, TXStudy 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, DCStudy 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 InformationFor additional information on existing clinical research resources, contact: Elaine S. Collier, M.D. |
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