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ClinicalTrials.gov public records Last synced Oct 30, 2026, 2:37 PM EDT

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Showing 697–720 of 2,426 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Metabolic Abnormalities Clear all
Not listed Not applicable Interventional

Family-based Intervention for Youth With Prader-Willi Syndrome: The Active Play at Home Study

NCT02058342
View directory record Official record
Conditions
Prader Willi Syndrome, Childhood Obesity
Interventions
Active Play at Home
Behavioral
Lead sponsor
California State University, Fullerton
Other
Eligibility
8 Years to 15 Years
Enrollment
115 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2015
U.S. locations
2
States / cities
Fullerton, California • Gainesville, Florida
Source: ClinicalTrials.gov public record
Updated Feb 10, 2014 · Synced Oct 30, 2026, 2:37 PM EDT
Completed Phase 2 Interventional Results available

Efficacy, Tolerability, and Pharmacokinetics of Multiple Doses of Oral TAK-831 in Adults With Friedreich Ataxia

NCT03214588
View directory record Official record
Conditions
Friedreich Ataxia
Interventions
TAK-831, TAK-831 Placebo
Drug
Lead sponsor
Neurocrine Biosciences
Industry
Eligibility
18 Years to 55 Years
Enrollment
67 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2018
U.S. locations
6
States / cities
Los Angeles, California • Gainesville, Florida • Tampa, Florida + 3 more
Source: ClinicalTrials.gov public record
Updated Jun 14, 2021 · Synced Oct 30, 2026, 2:37 PM EDT
Recruiting No phase listed Observational

Glycogen Storage Disease Type Ia (GSDIa) Disease Monitoring Program

NCT06636383
View directory record Official record
Conditions
Glycogen Storage Disease Type Ia
Interventions
No Intervention
Other
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
2 Years and older
Enrollment
140 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2036
U.S. locations
9
States / cities
Orange, California • Denver, Colorado • Hartford, Connecticut + 6 more
Source: ClinicalTrials.gov public record
Updated Oct 14, 2026 · Synced Oct 30, 2026, 2:37 PM EDT
Completed Phase 2 Interventional Results available

Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder

NCT00345605
View directory record Official record
Conditions
Argininosuccinic Aciduria, Amino Acid Metabolism, Inborn Errors, Urea Cycle Disorders
Interventions
Sodium Phenylbutyrate, Arginine
Drug
Lead sponsor
Brendan Lee
Other
Eligibility
5 Years and older
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2012
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jan 31, 2018 · Synced Oct 30, 2026, 2:37 PM EDT
Active, not recruiting Phase 3 Interventional

ZIP Study-OL Study of Safety, PK, Efficacy, PD, Immunogenicity of ATB200/AT2221 in Pediatrics Aged 0 to < 18 y.o. w/LOPD

NCT03911505
View directory record Official record
Conditions
Pompe Disease (Late-onset)
Interventions
Cipaglucosidase Alfa, Miglustat
Biological · Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
0 Years to 17 Years
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2027
U.S. locations
9
States / cities
Gainesville, Florida • Jacksonville, Florida • Atlanta, Georgia + 6 more
Source: ClinicalTrials.gov public record
Updated Sep 17, 2026 · Synced Oct 30, 2026, 2:37 PM EDT
Completed No phase listed Observational

The Fabrazyme® and Arbs and ACE Inhibitor Treatment (FAACET) Study

NCT00446862
View directory record Official record
Conditions
Fabry Disease, Proteinuria
Interventions
enalapril and other angiotensin converting enzyme inhibitors; losartan and other angiotensin receptor blockers
Drug
Lead sponsor
University of Alabama at Birmingham
Other
Eligibility
19 Years to 85 Years
Enrollment
36 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2012
U.S. locations
5
States / cities
Birmingham, Alabama • Atlanta, Georgia • Chicago, Illinois + 2 more
Source: ClinicalTrials.gov public record
Updated Nov 19, 2013 · Synced Oct 30, 2026, 2:37 PM EDT
Completed Phase 3 Interventional Results available

A Study of Lumasiran in Infants and Young Children With Primary Hyperoxaluria Type 1

NCT03905694
View directory record Official record
Conditions
Primary Hyperoxaluria, Primary Hyperoxaluria Type 1 (PH1)
Interventions
Lumasiran
Drug
Lead sponsor
Alnylam Pharmaceuticals
Industry
Eligibility
0 Years to 5 Years
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2024
U.S. locations
2
States / cities
Rochester, Minnesota • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Feb 14, 2025 · Synced Oct 30, 2026, 2:37 PM EDT
Completed Phase 3 Interventional Results available

Efficacy and Safety of Lucerastat Oral Monotherapy in Adult Subjects With Fabry Disease

NCT03425539
View directory record Official record
Conditions
Fabry Disease
Interventions
Lucerastat, Placebo
Drug
Lead sponsor
Idorsia Pharmaceuticals Ltd.
Industry
Eligibility
18 Years and older
Enrollment
118 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2021
U.S. locations
17
States / cities
Birmingham, Alabama • Irvine, California • Oakland, California + 14 more
Source: ClinicalTrials.gov public record
Updated Aug 9, 2024 · Synced Oct 30, 2026, 2:37 PM EDT
Completed Not applicable Interventional

Study of Total Body Irradiation and Fludarabine Followed By Allogeneic Peripheral Blood Stem Cell or Bone Marrow Transplantation in Combination With Cyclosporine and Mycophenolate Mofetil in Patients With Inherited Disorders

NCT00010361
View directory record Official record
Conditions
Metabolism, Inborn Errors, Granulomatous Disease, Chronic
Interventions
cyclosporine, fludarabine, mycophenolate mofetil
Drug
Lead sponsor
Fred Hutchinson Cancer Center
Other
Eligibility
Up to 55 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2000
U.S. locations
1
States / cities
Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Dec 9, 2014 · Synced Oct 30, 2026, 2:37 PM EDT
Completed Phase 2 Interventional Results available

Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia

NCT01599286
View directory record Official record
Conditions
Propionic Acidemia, Type I and/or Type II, Methylmalonic Acidemia, Carbamoyl-Phosphate Synthase I Deficiency Disease, Ornithine Carbamoyltransferase Deficiency
Interventions
Carbaglu, Placebo
Drug
Lead sponsor
Mendel Tuchman
Other
Eligibility
1 Week to 99 Years
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2020
U.S. locations
9
States / cities
Los Angeles, California • Palo Alto, California • Aurora, Colorado + 6 more
Source: ClinicalTrials.gov public record
Updated Feb 15, 2021 · Synced Oct 30, 2026, 2:37 PM EDT
Completed Phase 1Phase 2 Interventional Results available

Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1

NCT02124083
View directory record Official record
Conditions
Neimann-Pick Disease
Interventions
Vorinostat
Drug
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
18 Years to 60 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Feb 22, 2018 · Synced Oct 30, 2026, 2:37 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

PET Scan of Brain Metabolism in Relation to Age and Disease

NCT00001972
View directory record Official record
Conditions
Alzheimer's Disease, Brain Neoplasm, Niemann Pick Disease
Interventions
15 O Water
Drug
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
Not listed
Enrollment
123 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
1994 – 2002
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 4, 2008 · Synced Oct 30, 2026, 2:37 PM EDT
Completed Phase 1Phase 2 Interventional Results available

Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI

NCT02437253
View directory record Official record
Conditions
Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II, Mucopolysaccharidosis Type VI
Interventions
Adalimumab, Placebo
Drug · Other
Lead sponsor
Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Other
Eligibility
5 Years and older
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2016
U.S. locations
1
States / cities
Torrance, California
Source: ClinicalTrials.gov public record
Updated Sep 15, 2017 · Synced Oct 30, 2026, 2:37 PM EDT
Completed No phase listed Observational

Ketogenic Diet in Lafora Disease

NCT00007124
View directory record Official record
Conditions
Lafora Disease
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
Not listed
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2002
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 4, 2008 · Synced Oct 30, 2026, 2:37 PM EDT
Terminated Not applicable Interventional

Cell-Based Approaches For Modeling and Treating Ataxia-Telangiectasia

NCT02246491
View directory record Official record
Conditions
Ataxia-Telangiectasia (A-T)
Interventions
A-T iPS cell line, Carrier patients iPS cell line
Other
Lead sponsor
Johns Hopkins University
Other
Eligibility
3 Years to 100 Years
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 19, 2019 · Synced Oct 30, 2026, 2:37 PM EDT
Active, not recruiting No phase listed Observational Accepts healthy volunteers

FA Clinical Outcome Measures

NCT03090789
View directory record Official record
Conditions
Friedreich Ataxia, Neuro-Degenerative Disease
Interventions
Not listed
Lead sponsor
Friedreich's Ataxia Research Alliance
Other
Eligibility
4 Years to 80 Years
Enrollment
2,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2001 – 2030
U.S. locations
9
States / cities
Los Angeles, California • Denver, Colorado • Gainesville, Florida + 6 more
Source: ClinicalTrials.gov public record
Updated Oct 4, 2024 · Synced Oct 30, 2026, 2:37 PM EDT
Completed Phase 2 Interventional Results available

Evaluate the Safety, Efficacy, and Pharmacokinetics of CRN04894 in Participants With Congenital Adrenal Hyperplasia (TouCAHn)

NCT05907291
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia, Classic Congenital Adrenal Hyperplasia
Interventions
atumelnant (CRN04894)
Drug
Lead sponsor
Crinetics Pharmaceuticals Inc.
Industry
Eligibility
16 Years to 75 Years
Enrollment
38 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
8
States / cities
Pasadena, California • Ann Arbor, Michigan • Minneapolis, Minnesota + 5 more
Source: ClinicalTrials.gov public record
Updated Sep 10, 2026 · Synced Oct 30, 2026, 2:37 PM EDT
Recruiting No phase listed Observational

Familial Investigations of Childhood Cancer Predisposition

NCT03050268
View directory record Official record
Conditions
Acute Leukemia, Adenomatous Polyposis, Adrenocortical Carcinoma, AML, BAP1 Tumor Predisposition Syndrome, Carney Complex, Choroid Plexus Carcinoma, Constitutional Mismatch Repair Deficiency Syndrome, Diamond-Blackfan Anemia, DICER1 Syndrome, Dyskeratosis Congenita, Emberger Syndrome, Familial Acute Myeloid Leukemia, Familial Adenomatous Polyposis, Fanconi Anemia, Familial Cancer, Familial Wilms Tumor, Familial Neuroblastoma, GIST, Hereditary Breast and Ovarian Cancer, Hereditary Paraganglioma-Pheochromocytoma Syndrome, Hodgkin Lymphoma, Juvenile Polyposis, Li-Fraumeni Syndrome, Lynch Syndrome, MDS, Melanoma Syndrome, Multiple Endocrine Neoplasia Type 1, Multiple Endocrine Neoplasia Type 2, Neuroblastoma, Neurofibromatosis Type 1, Neurofibromatosis Type II, Nevoid Basal Cell Carcinoma Syndrome, Non Hodgkin Lymphoma, Noonan Syndrome and Other Rasopathy, Overgrowth Syndromes, Pancreatic Cancer, Peutz-Jeghers Syndrome, Pheochromocytoma/Paraganglioma, PTEN Hamartoma Tumor Syndrome, Retinoblastoma, Rhabdoid Tumor Predisposition Syndrome, Rhabdomyosarcoma, Rothmund-Thomson Syndrome, Tuberous Sclerosis, Von Hippel-Lindau Disease
Interventions
Not listed
Lead sponsor
St. Jude Children's Research Hospital
Other
Eligibility
Not listed
Enrollment
1,500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2037
U.S. locations
1
States / cities
Memphis, Tennessee
Source: ClinicalTrials.gov public record
Updated Jun 17, 2026 · Synced Oct 30, 2026, 2:37 PM EDT
Enrolling by invitation Phase 2 Interventional

Extension Study of Infigratinib in Children With Achondroplasia (ACH)

NCT05145010
View directory record Official record
Conditions
Achondroplasia
Interventions
Infigratinib
Drug
Lead sponsor
QED Therapeutics, a BridgeBio company
Industry
Eligibility
3 Years to 18 Years
Enrollment
325 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2032
U.S. locations
8
States / cities
Oakland, California • Aurora, Colorado • Wilmington, Delaware + 5 more
Source: ClinicalTrials.gov public record
Updated Oct 26, 2026 · Synced Oct 30, 2026, 2:37 PM EDT
Completed Phase 2 Interventional

Total-Body Irradiation and Cyclophosphamide in Treating Patients Who Are Undergoing Donor Stem Cell Transplant for Hematologic Cancer and Other Diseases

NCT00317785
View directory record Official record
Conditions
Leukemia, Lymphoma, Myelodysplastic Syndromes
Interventions
cyclophosphamide, cyclosporine, methotrexate, mycophenolate mofetil, sirolimus, tacrolimus, pharmacological study, allogeneic bone marrow transplantation, allogeneic hematopoietic stem cell transplantation, peripheral blood stem cell transplantation, total-body irradiation
Drug · Other · Procedure + 1 more
Lead sponsor
Fred Hutchinson Cancer Center
Other
Eligibility
18 Years to 70 Years
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2005
U.S. locations
2
States / cities
Seattle, Washington
Source: ClinicalTrials.gov public record
Updated May 7, 2010 · Synced Oct 30, 2026, 2:37 PM EDT
Completed Not applicable Interventional

Post-Gastric Bypass Hypoglycemia

NCT01933490
View directory record Official record
Conditions
Hyperinsulinemic Hypoglycemia
Interventions
high carbohydrate test meal, high carbohydrate test meal after pre-treatment with rapid acting aspart insulin, high fructose , low glucose test meal with carbohydrate and caloric content similar to the control meal
Other
Lead sponsor
University of Minnesota
Other
Eligibility
21 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2014
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Nov 1, 2019 · Synced Oct 30, 2026, 2:37 PM EDT
Completed Phase 2 Interventional Results available

Cysteamine Eye Drops to Treat Corneal Crystals in Cystinosis

NCT00001213
View directory record Official record
Conditions
Cystinosis
Interventions
Cysteamine
Drug
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
2 Years and older
Enrollment
328 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1986 – 2013
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 22, 2014 · Synced Oct 30, 2026, 2:37 PM EDT
Completed Phase 2 Interventional Results available

Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 (Sebelipase Alfa) in Adult Subjects With Lysosomal Acid Lipase Deficiency

NCT01488097
View directory record Official record
Conditions
Cholesterol Ester Storage Disease (CESD), Lysosomal Acid Lipase Deficiency, LAL-Deficiency
Interventions
sebelipase alfa
Drug
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
18 Years and older
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2017
U.S. locations
5
States / cities
Eureka, California • Sacramento, California • San Francisco, California + 2 more
Source: ClinicalTrials.gov public record
Updated Jul 20, 2018 · Synced Oct 30, 2026, 2:37 PM EDT
Completed Phase 3 Interventional Results available

Efficacy and Safety of Ultrase® MT20 in Improving the Coefficient of Fat Absorption (CFA) in Children With Cystic Fibrosis (CF) and Pancreatic Insufficiency (PI)

NCT00513682
View directory record Official record
Conditions
Cystic Fibrosis, Pancreatic Insufficiency
Interventions
Ultrase® MT20
Drug
Lead sponsor
Forest Laboratories
Industry
Eligibility
7 Years to 11 Years
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2008
U.S. locations
3
States / cities
Ann Arbor, Michigan • Cleveland, Ohio • Hershey, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Mar 16, 2017 · Synced Oct 30, 2026, 2:37 PM EDT