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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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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
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
Active, not recruiting No phase listed Observational Accepts healthy volunteers

Early Check: Expanded Screening in Newborns

NCT03655223
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
Terminated No phase listed Observational Accepts healthy volunteers

Diabetes/ Endocrine Surveillance in SDS

NCT04275479
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
Withdrawn Not applicable Interventional Accepts healthy volunteers

Calcimimetics in Hypophosphatemic Rickets

NCT00844740
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
Completed Phase 4 Interventional Results available

Allopurinol Outcome Study

NCT01391325
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
Completed Phase 4 Interventional Results available

Growth and Development Study of Alglucosidase Alfa

NCT00486889
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
Completed Not applicable Interventional Accepts healthy volunteers

Hmong Microbiome ANd Gout, Obesity, Vitamin C (HMANGO-C)

NCT04938024
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