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NCT01780168
- Conditions
- Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, +14 more
- Locations
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- National Institutes of Health Clinical Center Bethesda, Maryland, United States
NCT00001456
- Conditions
- Albinism, Albinism, Oculocutaneous, Amino Acid Metabolism, Inborn Errors, +33 more
- Locations
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- National Institutes of Health Clinical Center Bethesda, Maryland, United States
NCT00250159
- Conditions
- Adrenal Gland Diseases, Adrenal Hyperplasia, Congenital, Adrenal Insufficiency, +21 more
- Locations
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- Medstar Washington Hospital Center Washington D.C., District of Columbia, United States
- National Institutes of Health Clinical Center Bethesda, Maryland, United States
Recruiting
Study of Alkaptonuria
NCT00005909
- Conditions
- Alkaptonuria, Amino Acid Metabolism, Inborn Errors, Arthritis, +10 more
- Locations
-
- National Institutes of Health Clinical Center Bethesda, Maryland, United States
NCT07054515
- Conditions
- Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, +25 more
- Locations
-
- UCSF Children's Hospital and Research Center at Oakland Oakland, California, United States
- University of Minnesota Medical School Minneapolis, Minnesota, United States
- Mayo Clinic Childrens Center - PIN Rochester, Minnesota, United States
- Children's Medical Center Dallas Dallas, Texas, United States
NCT00359684
- Conditions
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cystinosis, Genetic Diseases, Inborn, +4 more
- Locations
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- National Institutes of Health Clinical Center Bethesda, Maryland, United States
Recruiting
Danon Disease Natural History Study
NCT06214507
- Conditions
- Carbohydrate Metabolism, Inborn Errors, Cardiomyopathies, Cardiovascular Diseases, +15 more
- Locations
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- Phoenix Children's Hospital Phoenix, Arizona, United States
- University of California, San Diego La Jolla, California, United States
- Children's Hospital Colorado Aurora, Colorado, United States
- University of Florida College of Medicine Gainesville, Florida, United States
Recruiting
Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
NCT00344331
- Conditions
- Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, +19 more
- Locations
-
- National Institutes of Health Clinical Center Bethesda, Maryland, United States
NCT00029965
- Conditions
- Bone Diseases, Bone Diseases, Metabolic, Brain Atrophy, +29 more
- Locations
-
- National Institutes of Health Clinical Center Bethesda, Maryland, United States
NCT06465810
- Conditions
- ATTR, ATTR-CM, ATTR-Mixed, +20 more
- Locations
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- Research Site La Jolla, California, United States
- Research Site Los Angeles, California, United States
- Research Site San Francisco, California, United States
- Research Site San Francisco, California, United States
NCT07728032
- Conditions
- Amino Acid Metabolism, Inborn Errors, Brain Diseases, Brain Diseases, Metabolic, +10 more
- Locations
-
- Birmingham Children's Hospital Birmingham, United Kingdom
NCT07144163
- Conditions
- Adrenal Gland Diseases, Adrenal Hyperplasia, Congenital, Adrenogenital Syndrome, +17 more
- Locations
-
- Crinetics Study Site Los Angeles, California, United States
- Crinetics Study Site Atlanta, Georgia, United States
- Crinetics Study Site Chicago, Illinois, United States
- Crinetics Study Site Baltimore, Maryland, United States
NCT06597006
- Conditions
- Aortic Valve Disease, Aortic Valve Stenosis, Cardiovascular Diseases, +18 more
- Locations
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- UC San Francisco Medical Center San Francisco, California, United States
- Childrens National Hospital Washington D.C., District of Columbia, United States
- Washington Univ School Of Medicine St Louis, Missouri, United States
- Primary Childrens Medical Center Salt Lake City, Utah, United States
NCT07159841
- Conditions
- Adrenal Gland Diseases, Adrenal Hyperplasia, Congenital, Adrenogenital Syndrome, +17 more
- Locations
-
- UCSF Ron Conway Gateway Medical Building San Francisco, California, United States
- Boston's Children's Hospital Boston, Massachusetts, United States
- University of Michigan Ann Arbor, Michigan, United States
- University of Minnesota Minneapolis, Minnesota, United States
- Conditions
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dyslipidemias, Genetic Diseases, Inborn, +9 more
- Locations
-
- Celerion Coorporate Office Nebraska Lincoln, Nebraska, United States
NCT06302348
- Conditions
- Amino Acid Metabolism, Inborn Errors, Brain Diseases, Brain Diseases, Metabolic, +10 more
- Locations
-
- Indiana University School of Medicine Indianapolis, Indiana, United States
- Women and Children Hospital North Adelaide, Australia
- The Royal Children's Hospital Parkville, Australia
- Centre Hospitalier Universitaire (CHU) de Lille - Hôpital Jeanne de Flandre Lille, France
Recruiting
A Safety and Tolerability Trial Evaluating CTX310 in Participants With Refractory Dyslipidemias
NCT07491172
- Conditions
- Cardiovascular, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dyslipidemias, +20 more
- Locations
-
- Integrity Clinical Research Hialeah, Florida, United States
- Jacksonville Center for Clinical Research Jacksonville, Florida, United States
- Flourish Orlando Orlando, Florida, United States
- United Medical Research Port Orange, Florida, United States
NCT06921720
- Conditions
- Avitaminosis, Bone Diseases, Bone Diseases, Metabolic, +27 more
- Locations
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- Hôpital femme mère enfant, hospices civils de Lyon Bron, France
- Hôpital Edouard Herriot, Hospices Civils de Lyon Lyon, France
Recruiting
Rare Kidney Stone Consortium Biobank
NCT02026388
- Conditions
- APRT Deficiency, Adenine phosphoribosyltransferase deficiency, Carbohydrate Metabolism, Inborn Errors, +21 more
- Locations
-
- Mayo Clinic Rochester, Minnesota, United States
Recruiting
Artificial Intelligence Guided Echocardiographic Screening of Rare Diseases (EchoNet-Screening)
NCT05139797
- Conditions
- Amyloid Neuropathies, Amyloid Neuropathies, Familial, Amyloidosis, +13 more
- Locations
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- Cedars-Sinai Medical Centre (Los Angeles) Los Angeles, California, United States