- Conditions
- Congenital Adrenal Hyperplasia, 21-OHD
- Interventions
- Tildacerfont
- Drug
- Lead sponsor
- Spruce Biosciences
- Industry
- Eligibility
- 2 Years and older
- Enrollment
- 67 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2021 – 2025
- U.S. locations
- 13
- States / cities
- Sacramento, California • San Diego, California • Chicago, Illinois + 10 more
Search Results
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Showing 25–48
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- Conditions
- Acute Gouty Arthritis Flares
- Interventions
- ACZ885, Triamcinolone acetonide 40 mg
- Drug
- Lead sponsor
- Novartis Pharmaceuticals
- Industry
- Eligibility
- 18 Years and older
- Enrollment
- 136 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2011 – 2013
- U.S. locations
- 33
- States / cities
- Anniston, Alabama • Mobile, Alabama • Norwalk, California + 28 more
- Conditions
- Pseudohypoparathyroidism and Pseudopseudohypoparathyroidism, Pseudohypoparathyroidism Type Ia, Albright Hereditary Osteodystrophy
- Interventions
- Not listed
- Lead sponsor
- Vanderbilt University Medical Center
- Other
- Eligibility
- 6 Years to 50 Years
- Enrollment
- 14 participants
- Timeline
- 2019 – 2021
- U.S. locations
- 1
- States / cities
- Nashville, Tennessee
- Conditions
- Healthy
- Interventions
- KADIAN Capsule + alcohol (under fasting conditions), KADIAN Capsule + water (under fasting conditions), morphine sulfate IR oral solution + water, KADIAN Capsule + alcohol (under fed conditions)
- Drug
- Lead sponsor
- Actavis Inc.
- Industry
- Eligibility
- 21 Years to 40 Years · Male only
- Enrollment
- 32 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2006
- U.S. locations
- 1
- States / cities
- Lincoln, Nebraska
- Conditions
- Gout
- Interventions
- Probenecid, Allopurinol
- Drug
- Lead sponsor
- Brigham and Women's Hospital
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 294,878 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2021 – 2023
- U.S. locations
- 1
- States / cities
- Boston, Massachusetts
- Conditions
- Familial Hypercholesterolemia
- Interventions
- FH diagnosis program, Implementation strategy package: Develop and implement tools for quality monitoring, Implementation strategy package: Develop educational materials, Implementation strategy package: Conduct educational outreach visits, Implementation strategy package: Intervene with clinicians and patients to enhance, Behavioral (e.g., Psychotherapy, Lifestyle Counseling) Implementation strategy package: Identify and prepare champions Clinical lipid champions, Implementation strategy package: Audit and provide feedback, Implementation strategy package: Stage implementation scale up
- Behavioral
- Lead sponsor
- Geisinger Clinic
- Other
- Eligibility
- 26 Years and older
- Enrollment
- 532 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2022 – 2027
- U.S. locations
- 1
- States / cities
- Multiple Locations, Pennsylvania
- Conditions
- X-linked Hypophosphatemia
- Interventions
- burosumab, Placebo
- Biological · Other
- Lead sponsor
- Kyowa Kirin, Inc.
- Industry
- Eligibility
- 18 Years to 65 Years
- Enrollment
- 134 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2015 – 2018
- U.S. locations
- 8
- States / cities
- Los Angeles, California • San Francisco, California • New Haven, Connecticut + 5 more
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy, Hyperinsulinemic Hypoglycemia, Familial 1, Diabetes Mellitus, Adrenoleukodystrophy, Neonatal, Medium-chain Acyl-CoA Dehydrogenase Deficiency, Very Long Chain Acyl Coa Dehydrogenase Deficiency, Beta-ketothiolase Deficiency, Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency, Primary Hyperoxaluria Type 1, Congenital Bile Acid Synthesis Defect Type 2, Pyridoxine-Dependent Epilepsy, Hereditary Fructose Intolerance, Hypophosphatasia, Hyperargininemia, Mucopolysaccharidosis Type 6, Argininosuccinic Aciduria, Citrullinemia, Type I, Wilson Disease, Maple Syrup Urine Disease, Type 1A, Maple Syrup Urine Disease, Type 1B, Biotinidase Deficiency, Neonatal Severe Primary Hyperparathyroidism, Intrinsic Factor Deficiency, Usher Syndrome Type 1D/F Digenic (Diagnosis), Cystic Fibrosis, Stickler Syndrome Type 2, Stickler Syndrome Type 1, Alport Syndrome, Autosomal Recessive, Alport Syndrome, X-Linked, Carbamoyl Phosphate Synthetase I Deficiency Disease, Carnitine Palmitoyl Transferase 1A Deficiency, Carnitine Palmitoyltransferase II Deficiency, Cystinosis, Chronic Granulomatous Disease, Cerebrotendinous Xanthomatoses, Maple Syrup Urine Disease, Type 2, Severe Combined Immunodeficiency Due to DCLRE1C Deficiency, Thyroid Dyshormonogenesis 6, Thyroid Dyshormonogenesis 5, Supravalvar Aortic Stenosis, Factor X Deficiency, Hemophilia A, Hemophilia B, Tyrosinemia, Type I, Fructose 1,6 Bisphosphatase Deficiency, Glycogen Storage Disease Type I, G6PD Deficiency, Glycogen Storage Disease II, Galactokinase Deficiency, Mucopolysaccharidosis Type IV A, Galactosemias, Guanidinoacetate Methyltransferase Deficiency, Agat Deficiency, Glutaryl-CoA Dehydrogenase Deficiency, Gtp Cyclohydrolase I Deficiency, Hyperinsulinism-Hyperammonemia Syndrome, Primary Hyperoxaluria Type 2, 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, Mitochondrial Trifunctional Protein Deficiency, Sickle Cell Disease, Beta-Thalassemia, Holocarboxylase Synthetase Deficiency, 3-Hydroxy-3-Methylglutaric Aciduria, Primary Hyperoxaluria Type 3, Hermansky-Pudlak Syndrome 1, Hermansky-Pudlak Syndrome 4, Apparent Mineralocorticoid Excess, HSDB, CBAS1, Mucopolysaccharidosis Type 2, Mucopolysaccharidosis Type 1, Severe Combined Immunodeficiency, X Linked, Severe Combined Immunodeficiency Due to IL-7Ralpha Deficiency, Diabetes Mellitus, Permanent Neonatal, Isovaleric Acidemia, Severe Combined Immunodeficiency T-Cell Negative B-Cell Positive Due to Janus Kinase-3 Deficiency (Disorder), Jervell and Lange-Nielsen Syndrome 2, Hyperinsulinemic Hypoglycemia, Familial, 2, Diabetes Mellitus, Permanent Neonatal, With Neurologic Features, Jervell and Lange-Nielsen Syndrome 1, Lysosomal Acid Lipase Deficiency, CblF, 3-Methylcrotonyl CoA Carboxylase 1 Deficiency, 3-Methylcrotonyl CoA Carboxylase 2 Deficiency, Waardenburg Syndrome Type 2A, Methylmalonic Aciduria cblA Type, Methylmalonic Aciduria cblB Type, Methylmalonic Aciduria and Homocystinuria Type cblC, MAHCD, Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency, Congenital Disorder of Glycosylation Type 1B, Mthfr Deficiency, Methylcobalamin Deficiency Type Cbl G (Disorder), Methylcobalamin Deficiency Type cblE, Usher Syndrome, Type 1B, N-acetylglutamate Synthase Deficiency, Ornithine Transcarbamylase Deficiency, Phenylketonurias, Waardenburg Syndrome Type 1, Congenital Hypothyroidism, Propionic Acidemia, Usher Syndrome, Type 1F, Pancreatic Agenesis 1, Hereditary Hypophosphatemic Rickets, Glycogen Storage Disease IXB, Glycogen Storage Disease IXC, MOWS, Epilepsy, Early-Onset, Vitamin B6-Dependent, Pyridoxal Phosphate-Responsive Seizures, Pituitary Hormone Deficiency, Combined, 1, Ptsd, Dihydropteridine Reductase Deficiency, Severe Combined Immunodeficiency Due to RAG1 Deficiency, Severe Combined Immunodeficiency Due to RAG2 Deficiency, Retinoblastoma, Multiple Endocrine Neoplasia Type 2B, Pseudohypoaldosteronism, Type I, Liddle Syndrome, Biotin-Responsive Basal Ganglia Disease, SCD, DIAR1, GSD1C, Acrodermatitis Enteropathica, Thyroid Dyshormonogenesis 1, Riboflavin Transporter Deficiency, Waardenburg Syndrome, Type 2E, SRD, Congenital Lipoid Adrenal Hyperplasia Due to STAR Deficiency, Barth Syndrome, Adrenocorticotropic Hormone Deficiency, Transcobalamin II Deficiency, Thyroid Dyshormonogenesis 3, Segawa Syndrome, Autosomal Recessive, Autosomal Recessive Nonsyndromic Hearing Loss, Thyroid Dyshormonogenesis 2A, Congenital Isolated Thyroid Stimulating Hormone Deficiency, Hypothyroidism Due to TSH Receptor Mutations, Usher Syndrome Type 1C, Usher Syndrome Type 1G (Diagnosis), Von Willebrand Disease, Type 3, Combined Immunodeficiency Due to ZAP70 Deficiency, Adenine Phosphoribosyltransferase Deficiency, Metachromatic Leukodystrophy, Canavan Disease, Menkes Disease, Carbonic Anhydrase VA Deficiency, Developmental and Epileptic Encephalopathy 2, 17 Alpha-Hydroxylase Deficiency, Smith-Lemli-Opitz Syndrome, Krabbe Disease, Glutathione Synthetase Deficiency, Mucopolysaccharidosis Type 7, Rett Syndrome, Molybdenum Cofactor Deficiency, Type A, Niemann-Pick Disease, Type C1, Niemann-Pick Disease Type C2, Ornithine Aminotransferase Deficiency, 3-Phosphoglycerate Dehydrogenase Deficiency, Leber Congenital Amaurosis 2, Dravet Syndrome, Mucopolysaccharidosis Type 3 A, Ornithine Translocase Deficiency, Carnitine-acylcarnitine Translocase Deficiency, Glucose Transporter Type 1 Deficiency Syndrome, Creatine Transporter Deficiency, Niemann-Pick Disease Type A, Pitt Hopkins Syndrome, Tuberous Sclerosis 1, Tuberous Sclerosis 2, Ataxia With Isolated Vitamin E Deficiency, Angelman Syndrome, Prader-Willi Syndrome, Homocystinuria, Permanent Neonatal Diabetes Mellitus, Transient Neonatal Diabetes Mellitus, Factor VII Deficiency, Glycogen Storage Disease Type IXA1, Glycogen Storage Disease, Type IXA2, Glycogen Storage Disease IC, Glycogen Storage Disease Type IB, Central Hypoventilation Syndrome With or Without Hirschsprung Disease
- Interventions
- Confirmatory Testing
- Diagnostic Test
- Lead sponsor
- RTI International
- Other
- Eligibility
- 1 Day to 31 Days
- Enrollment
- 30,000 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2018 – 2026
- U.S. locations
- 1
- States / cities
- Research Triangle Park, North Carolina
- Conditions
- Smith-Lemli-Opitz Syndrome
- Interventions
- Cholesterol supplementation
- Dietary Supplement
- Lead sponsor
- Oregon Health and Science University
- Other
- Eligibility
- Up to 85 Years
- Enrollment
- 21 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2011 – 2015
- U.S. locations
- 5
- States / cities
- Bethesda, Maryland • Omaha, Nebraska • Cincinnati, Ohio + 2 more
- Conditions
- Amyloidosis
- Interventions
- Doxycycline 100 mg po bid x 12 months
- Drug
- Lead sponsor
- Boston University
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 25 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2012 – 2015
- U.S. locations
- 1
- States / cities
- Boston, Massachusetts
- Conditions
- Atherosclerosis, Coronary Artery Disease
- Interventions
- lovastatin
- Drug
- Lead sponsor
- Merck Sharp & Dohme LLC
- Industry
- Eligibility
- 21 Years to 67 Years
- Enrollment
- 270 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 1985 – 1992
- U.S. locations
- 1
- States / cities
- Los Angeles, California
- Conditions
- Shwachman-Diamond Syndrome
- Interventions
- Oral Glucose Tolerance Test, Modified Oral Glucose Tolerance Test, Modified Mixed Meal Tolerance Test, Continuous Glucose Monitor, Food Diary, Medical History Questionnaires
- Diagnostic Test · Other · Device
- Lead sponsor
- Washington University School of Medicine
- Other
- Eligibility
- 3 Years and older
- Enrollment
- 11 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2020 – 2022
- U.S. locations
- 1
- States / cities
- St Louis, Missouri
- Conditions
- Familial Hypophosphatemic Rickets
- Interventions
- Cinacalcet
- Drug
- Lead sponsor
- Children's Mercy Hospital Kansas City
- Other
- Eligibility
- 5 Years to 21 Years
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2009 – 2012
- U.S. locations
- 1
- States / cities
- Kansas City, Missouri
- Conditions
- Wilson Disease
- Interventions
- ALXN1840
- Drug
- Lead sponsor
- Alexion Pharmaceuticals, Inc.
- Industry
- Eligibility
- 18 Years and older
- Enrollment
- 29 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2014 – 2018
- U.S. locations
- 4
- States / cities
- Los Angeles, California • New Haven, Connecticut • Chicago, Illinois + 1 more
- Conditions
- Albinism, Inborn Errors of Metabolism, Oculocutaneous Albinism, Platelet Storage Pool Deficiency, Pulmonary Fibrosis
- Interventions
- Pirfenidone, Placebo
- Drug
- Lead sponsor
- William Gahl, M.D.
- NIH
- Eligibility
- 18 Years and older
- Enrollment
- 35 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2005 – 2016
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- Conditions
- Neutropenia
- Interventions
- Mavorixafor, Placebo
- Drug
- Lead sponsor
- X4 Pharmaceuticals
- Industry
- Eligibility
- 12 Years and older
- Enrollment
- 176 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2024 – 2027
- U.S. locations
- 22
- States / cities
- Phoenix, Arizona • Irvine, California • La Jolla, California + 19 more
- Conditions
- Gout
- Interventions
- Allopurinol
- Drug
- Lead sponsor
- Ardea Biosciences, Inc.
- Industry
- Eligibility
- 18 Years to 85 Years
- Enrollment
- 1,735 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2011 – 2013
- U.S. locations
- 127
- States / cities
- Birmingham, Alabama • Bringham, Alabama • Calera, Alabama + 113 more
- Conditions
- Congenital Adrenal Hyperplasia (CAH), Familial Male-Limited Precocious Puberty (FMPP)
- Interventions
- Not listed
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- NIH
- Eligibility
- 1 Day to 99 Years
- Enrollment
- 3,000 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- Started 2006
- U.S. locations
- 2
- States / cities
- Washington D.C., District of Columbia • Bethesda, Maryland
- Conditions
- Fabry Disease
- Interventions
- Pegunigalsidase alfa
- Biological
- Lead sponsor
- Protalix
- Industry
- Eligibility
- 18 Years to 60 Years
- Enrollment
- 30 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017 – 2020
- U.S. locations
- 7
- States / cities
- Birmingham, Alabama • Atlanta, Georgia • Iowa City, Iowa + 4 more
- Conditions
- Gout, Cardiovascular Diseases
- Interventions
- Not listed
- Lead sponsor
- Takeda
- Industry
- Eligibility
- 21 Years and older
- Enrollment
- 24,046 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2020 – 2021
- U.S. locations
- 1
- States / cities
- Cambridge, Massachusetts
- Conditions
- Gaucher Disease, Type 1
- Interventions
- Not listed
- Lead sponsor
- Genzyme, a Sanofi Company
- Industry
- Eligibility
- 16 Years to 65 Years
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2008 – 2009
- U.S. locations
- 1
- States / cities
- New York, New York
- Conditions
- Pompe Disease, Glycogen Storage Disease Type II (GSD-II), Acid Maltase Deficiency Disease
- Interventions
- alglucosidase alfa
- Biological
- Lead sponsor
- Genzyme, a Sanofi Company
- Industry
- Eligibility
- Up to 24 Months
- Enrollment
- 12 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2008 – 2021
- U.S. locations
- 3
- States / cities
- Gainesville, Florida • Decatur, Georgia • Detroit, Michigan
- Conditions
- Homocystinuria Due to Cystathionine Beta-Synthase Deficiency
- Interventions
- Pegtarviliase IV, Pegtarviliase SC
- Drug
- Lead sponsor
- Aeglea Biotherapeutics
- Industry
- Eligibility
- 12 Years and older
- Enrollment
- 13 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2021 – 2023
- U.S. locations
- 1
- States / cities
- Dallas, Texas
- Conditions
- Hyperuricemia, Gout
- Interventions
- Vitamin C
- Dietary Supplement
- Lead sponsor
- University of Minnesota
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 135 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2021 – 2023
- U.S. locations
- 1
- States / cities
- Minneapolis, Minnesota