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Published and searchable clinical trials
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
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
NCT00029965
- Conditions
- Bone Diseases, Bone Diseases, Metabolic, Brain Atrophy, +29 more
- Locations
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- National Institutes of Health Clinical Center Bethesda, Maryland, United States
Rare Kidney Stone Consortium Biobank
NCT02026388
- Conditions
- APRT Deficiency, Adenine phosphoribosyltransferase deficiency, Carbohydrate Metabolism, Inborn Errors, +21 more
- Locations
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- Mayo Clinic Rochester, Minnesota, United States
NCT04199000
- Conditions
- Carbohydrate Metabolism, Inborn Errors, Congenital Disorders of Glycosylation, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, +4 more
- Locations
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- Rady Children's Hospital San Diego, California, United States
- Children's Hospital of Colorado Aurora, Colorado, United States
- Mayo Clinic Florida Jacksonville, Florida, United States
- Tulane University School of Medicine New Orleans, Louisiana, United States
NCT07282847
- Conditions
- Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, +16 more
- Locations
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- Barrow Neurological Institute Phoenix, Arizona, United States
- University of California, Irvine (UCI) Irvine, California, United States
- Stanford Neuroscience Health Center Palo Alto, California, United States
- NYU Langone New York, United States
Study of Skeletal Disorders
NCT05031507
- Conditions
- Bone Diseases, Bone Diseases, Developmental, Carbohydrate Metabolism, Inborn Errors, +15 more
- Locations
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- National Institutes of Health Clinical Center Bethesda, Maryland, United States
NCT02716246
- Conditions
- Carbohydrate Metabolism, Inborn Errors, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Connective Tissue Diseases, +12 more
- Locations
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- Nationwide Children's Hospital Columbus, Ohio, United States
- Children's Hospital of Pittsburgh Pittsburgh, Pennsylvania, United States
- Women's and Children's Hospital North Adelaide, South Australia, Australia
- Vall d'Hebron Barcelona Hospital Campus Barcelona, Spain
NCT05682144
- Conditions
- Carbohydrate Metabolism, Inborn Errors, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Connective Tissue Diseases, +11 more
- Locations
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- UCSF Benioff Children's Hospital Oakland Oakland, California, United States
- University of Minnesota Minneapolis, Minnesota, United States
NCT06410976
- Conditions
- Bone Diseases, Bone Diseases, Developmental, Carbohydrate Metabolism, Inborn Errors, +16 more
- Locations
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- UCSF Benioff Children's Hospital Oakland, California, United States
- Childrens Hospital Colorado Aurora, Colorado, United States
- Children's National Hospital Washington D.C., District of Columbia, United States
- Johns Hopkins School of Medicine Baltimore, Maryland, United States
NCT07169279
- Conditions
- Achondroplasia, Bone Diseases, Bone Diseases, Developmental, +19 more
- Locations
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- UCSF Benioff Children's Hospital Oakland, California, United States
- Johns Hopkins University Baltimore, Maryland, United States
- University of Wisconsin Madison - Waisman Center Bone Dysplasia Clinic Madison, Wisconsin, United States
- Murdoch Children's Research Institute Parkville, Victoria, Australia
NCT00588562
- Conditions
- APRT Deficiency, Adenine phosphoribosyltransferase deficiency, Carbohydrate Metabolism, Inborn Errors, +19 more
- Locations
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- Dent Disease Registry -Mayo Clinic Rochester, Minnesota, United States
- Primary Hyperoxaluria Registry - Mayo Clinic Rochester, Minnesota, United States
- Cystinuria Registry - New York University New York, United States
- APRT Registry - Landspitali Universtiy Hospital Reykjavik, Iceland
Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
NCT02089789
- Conditions
- Carbohydrate Metabolism, Inborn Errors, Cardiovascular Diseases, Congenital Disorders of Glycosylation, +23 more
- Locations
-
- National Institutes of Health Clinical Center Bethesda, Maryland, United States
NCT06636383
- Conditions
- Carbohydrate Metabolism, Inborn Errors, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Genetic Diseases, Inborn, +8 more
- Locations
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- Children's Hospital of Orange County Orange, California, United States
- Children's Hospital Colorado Denver, Colorado, United States
- University of Connecticut Health Center Hartford, Connecticut, United States
- University of Michigan Ann Arbor, Michigan, United States
NCT07354724
- Conditions
- Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, +13 more
- Locations
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- University of California-Irvine Irvine, California, United States
- Duke University School of Medicine - Early Phase Research Unit Durham, North Carolina, United States
- The Lysosomal & Rare Disorders Research & Treatment Center Fairfax, Virginia, United States
NCT04948658
- Conditions
- Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, +32 more
- Locations
-
- National Institutes of Health Clinical Center Bethesda, Maryland, United States
Study of Cannabidiol in Sanfilippo Syndrome
NCT06333041
- Conditions
- Carbohydrate Metabolism, Inborn Errors, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Connective Tissue Diseases, +10 more
- Locations
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- The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center Torrance, California, United States
NCT07664930
- Conditions
- Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, +13 more
- Locations
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- Translational Neurophysiology Pavia, Italy
NCT07123155
- Conditions
- Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, +17 more
- Locations
-
- University of California - Irvine Medical Center Irvine, California, United States
- University of Florida (UF) - Gainesville Gainesville, Florida, United States
- Emory University Hospital Atlanta, Georgia, United States
- Washington University in St. Louis St Louis, Missouri, United States
Pompe Disease Registry Protocol
NCT00231400
- Conditions
- Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, +13 more
- Locations
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- University of Alabama at Birmingham- Site Number : 840106 Birmingham, Alabama, United States
- Barrow Neurological Institute- Site Number : 840087 Phoenix, Arizona, United States
- Phoenix Children's Hospital- Site Number : 840003 Phoenix, Arizona, United States
- University of Arizona- Site Number : 840015 Tucson, Arizona, United States