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ClinicalTrials.gov public records Last synced Oct 23, 2026, 8:59 PM EDT

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Showing 169–192 of 2,421 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Metabolic Abnormalities Clear all
Terminated Phase 1Phase 2 Interventional Results available

Safety, Tolerability, and Pharmacokinetics of UX053 in Patients With Glycogen Storage Disease Type III (GSD III)

NCT04990388
View directory record Official record
Conditions
Glycogen Storage Disease Type III
Interventions
UX053, Placebo, Antipyretic, H2 Blocker, H1 Blocker
Biological · Other · Drug
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
18 Years and older
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
4
States / cities
Orange, California • Atlanta, Georgia • Philadelphia, Pennsylvania + 1 more
Source: ClinicalTrials.gov public record
Updated Apr 16, 2024 · Synced Oct 23, 2026, 8:59 PM EDT
Completed No phase listed Observational

Stress, Hypothalamic-pituitary-adrenal (HPA) Dysfunction, and Relapse in Alcoholism

NCT00744588
View directory record Official record
Conditions
Alcohol Dependence
Interventions
Not listed
Lead sponsor
University of Texas Southwestern Medical Center
Other
Eligibility
18 Years to 60 Years · Male only
Enrollment
75 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2012
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Jan 3, 2013 · Synced Oct 23, 2026, 8:59 PM EDT
Completed Phase 2 Interventional

A Phase 2 Study of JNT-517 in Adolescent Participants With Phenylketonuria

NCT06637514
View directory record Official record
Conditions
Phenylketonuria (PKU)
Interventions
JNT-517 Tablet, Placebo
Drug · Other
Lead sponsor
Otsuka Pharmaceutical Development & Commercialization, Inc.
Industry
Eligibility
12 Years to 17 Years
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2026
U.S. locations
6
States / cities
Gainesville, Florida • Tampa, Florida • Portland, Oregon + 3 more
Source: ClinicalTrials.gov public record
Updated May 13, 2026 · Synced Oct 23, 2026, 8:59 PM EDT
Completed No phase listed Observational

Screening Protocol to Evaluate Acid Alpha-Glucosidase (GAA) Activity and GAA Gene Mutations in Patients With Late Onset Pompe Disease

NCT00113035
View directory record Official record
Conditions
Pompe Disease
Interventions
Not listed
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
8 Years and older
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005
U.S. locations
5
States / cities
Beverly Hills, California • Washington D.C., District of Columbia • St Louis, Missouri + 2 more
Source: ClinicalTrials.gov public record
Updated May 5, 2015 · Synced Oct 23, 2026, 8:59 PM EDT
Recruiting No phase listed Observational

Danon Disease Natural History Study

NCT06214507
View directory record Official record
Conditions
Danon Disease
Interventions
No intervention
Other
Lead sponsor
Rocket Pharmaceuticals Inc.
Industry
Eligibility
8 Years and older
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2030
U.S. locations
9
States / cities
Phoenix, Arizona • La Jolla, California • Aurora, Colorado + 6 more
Source: ClinicalTrials.gov public record
Updated Oct 19, 2026 · Synced Oct 23, 2026, 8:59 PM EDT
Completed Phase 2 Interventional

Phase II Study to Evaluate Efficacy and Safety of D-0120 in Combination With Allopurinol in Subjects With Gout

NCT05665699
View directory record Official record
Conditions
Gout
Interventions
D-0120, Allopurinol
Drug
Lead sponsor
InventisBio Co., Ltd
Industry
Eligibility
18 Years to 75 Years
Enrollment
80 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
19
States / cities
Birmingham, Alabama • Plantation, Florida • Evergreen Park, Illinois + 16 more
Source: ClinicalTrials.gov public record
Updated Jul 9, 2026 · Synced Oct 23, 2026, 8:59 PM EDT
Completed Phase 2Phase 3 Interventional Results available

Efficacy and Safety of Inotersen in Familial Amyloid Polyneuropathy

NCT01737398
View directory record Official record
Conditions
FAP, Familial Amyloid Polyneuropathy, TTR, Transthyretin, Amyloidosis
Interventions
Inotersen, Placebo
Drug
Lead sponsor
Ionis Pharmaceuticals, Inc.
Industry
Eligibility
18 Years to 82 Years
Enrollment
173 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2017
U.S. locations
9
States / cities
Orange, California • Indianapolis, Indiana • Baltimore, Maryland + 5 more
Source: ClinicalTrials.gov public record
Updated Jul 17, 2019 · Synced Oct 23, 2026, 8:59 PM EDT
Terminated Phase 2 Interventional Results available

Vision Response to Dopamine Replacement

NCT01663935
View directory record Official record
Conditions
Albinism, Oculocutaneous Albinism
Interventions
Levodopa/carbidopa
Drug
Lead sponsor
University of Wisconsin, Madison
Other
Eligibility
3 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2018
U.S. locations
1
States / cities
Madison, Wisconsin
Source: ClinicalTrials.gov public record
Updated Jun 11, 2019 · Synced Oct 23, 2026, 8:59 PM EDT
Terminated Phase 3 Interventional Results available

CER-001 Therapy as a Novel Approach to Treat Genetic Orphan Diseases

NCT02697136
View directory record Official record
Conditions
Familial Hypoalphalipoproteinemia
Interventions
CER-001, Placebo
Drug
Lead sponsor
Cerenis Therapeutics, SA
Industry
Eligibility
18 Years and older
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
1
States / cities
Salt Lake City, Utah
Source: ClinicalTrials.gov public record
Updated Jul 22, 2025 · Synced Oct 23, 2026, 8:59 PM EDT
Enrolling by invitation Phase 2 Interventional

Sirolimus for Leigh Syndrome

NCT06843811
View directory record Official record
Conditions
Leigh Syndrome
Interventions
Sirolimus
Drug
Lead sponsor
Matthew Demczko
Other
Eligibility
6 Months to 55 Years
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Mar 31, 2026 · Synced Oct 23, 2026, 8:59 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Remote Neurocognitive and Psychological Assessment in PKU

NCT04943393
View directory record Official record
Conditions
Phenylketonurias
Interventions
nointervention
Other
Lead sponsor
University of Missouri-Columbia
Other
Eligibility
18 Years to 40 Years
Enrollment
84 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2021
U.S. locations
2
States / cities
Atlanta, Georgia • Columbia, Missouri
Source: ClinicalTrials.gov public record
Updated Apr 22, 2022 · Synced Oct 23, 2026, 8:59 PM EDT
Completed Phase 3 Interventional Results available

A Safety Study for Previously Treated Vatiquinone (PTC743) Participants With Inherited Mitochondrial Disease

NCT05218655
View directory record Official record
Conditions
Inherited Mitochondrial Disease
Interventions
Vatiquinone
Drug
Lead sponsor
PTC Therapeutics
Industry
Eligibility
Not listed
Enrollment
101 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2025
U.S. locations
14
States / cities
La Jolla, California • Stanford, California • New Haven, Connecticut + 10 more
Source: ClinicalTrials.gov public record
Updated Dec 22, 2025 · Synced Oct 23, 2026, 8:59 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Genetic Influence on Susceptibility to Type 1 Diabetes Mellitus

NCT00001985
View directory record Official record
Conditions
Diabetes Mellitus, Healthy
Interventions
Not listed
Lead sponsor
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
NIH
Eligibility
Not listed
Healthy volunteers
Accepts healthy volunteers
Timeline
2000 – 2003
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 5, 2008 · Synced Oct 23, 2026, 8:59 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions

NCT01931644
View directory record Official record
Conditions
All Diagnosed Health Conditions, ADD/ADHD, Alopecia Areata, Ankylosing Spondylitis, Asthma, Atopic Dermatitis Eczema, Beta Thalassemia, Bipolar Disorder, Breast Cancer, Celiac Disease, Cervical Cancer, Chronic Inflammatory Demyelinating Polyneuropathy, Chronic Kidney Diseases, Chronic Obstructive Pulmonary Disease, Colon Cancer, Colorectal Cancer, Crohn's Disease, Cystic Fibrosis, Depression, Diabetes Mellitus, Duchenne Muscular Dystrophy, Endometriosis, Epilepsy, Facioscapulohumeral Muscular Dystrophy, G6PD Deficiency, General Anxiety Disorder, Hepatitis B, Hereditary Hemorrhagic Telangiectasia, HIV/AIDS, Human Papilloma Virus, Huntington's Disease, Idiopathic Thrombocytopenic Purpura, Insomnia, Kidney Cancer, Leukemia, Lung Cancer, Lupus Nephritis, Lymphoma, Melanoma, Multiple Myeloma, Multiple Sclerosis, Myositis, Myotonic Dystrophy, Ovarian Cancer, Pancreatic Cancer, Parkinson's Disease, Polycystic Kidney Diseases, Prostate Cancer, Psoriasis, Psoriatic Arthritis, Rosacea, Scleroderma, Sickle Cell Anemia, Sickle Cell Trait, Sjogren's Syndrome, Skin Cancer, Spinal Muscular Atrophy, Systemic Lupus Erythematosus, Thrombotic Thrombocytopenic Purpura, Trisomy 21, Ulcerative Colitis
Interventions
Not listed
Lead sponsor
Sanguine Biosciences
Industry
Eligibility
18 Years to 100 Years
Enrollment
17,667 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2024
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Apr 18, 2024 · Synced Oct 23, 2026, 8:59 PM EDT
Completed Phase 1 Interventional

Human Placental-Derived Stem Cell Transplantation

NCT01586455
View directory record Official record
Conditions
Mucopolysaccharidosis I, Mucopolysaccharidosis VI, Adrenoleukodystrophy, Niemann-Pick Disease, Metachromatic Leukodystrophy, Wolman Disease, Krabbe's Disease, Gaucher's Disease, Fucosidosis, Batten Disease, Severe Aplastic Anemia, Diamond-Blackfan Anemia, Amegakaryocytic Thrombocytopenia, Myelodysplastic Syndrome, Acute Myelogenous Leukemia, Acute Lymphocytic Leukemia
Interventions
Human Placental Derived Stem Cell
Drug
Lead sponsor
New York Medical College
Other
Eligibility
0 Years to 55 Years
Enrollment
43 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2022
U.S. locations
3
States / cities
Denver, Colorado • Valhalla, New York • Salt Lake City, Utah
Source: ClinicalTrials.gov public record
Updated Oct 25, 2022 · Synced Oct 23, 2026, 8:59 PM EDT
Withdrawn Not applicable Interventional

Metabolic Abnormalities in Hispanic Children With Cystic Fibrosis

NCT00287443
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
Oral Glucose tolerance test, Whole body protein turnover, IV glucose tolerance test, Indirect Calorimetry, Dual Energy X-ray Absorptiometry (DEXA), Growth Hormone Stimulation Test
Procedure
Lead sponsor
University of Texas Southwestern Medical Center
Other
Eligibility
7 Years to 17 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Dec 26, 2018 · Synced Oct 23, 2026, 8:59 PM EDT
No Longer Available No phase listed Expanded access

Allogeneic Stem Cell Transplantation for the Treatment of Multiple Sclerosis (Compassionate Use)

NCT02084121
View directory record Official record
Conditions
Metachromatic Leukodystrophy
Interventions
Enriched Hematopoetic Stem Cell Infusion
Biological
Lead sponsor
Talaris Therapeutics Inc.
Industry
Eligibility
3 Years and older · Male only
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 18, 2022 · Synced Oct 23, 2026, 8:59 PM EDT
Recruiting No phase listed Observational

A Retrospective Study to Characterize Participants With Propionic Acidemia

NCT05769621
View directory record Official record
Conditions
Propionic Acidemia
Interventions
Not listed
Lead sponsor
ModernaTX, Inc.
Industry
Eligibility
2 Years and older
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2026
U.S. locations
6
States / cities
Stanford, California • Baltimore, Maryland • Ann Arbor, Michigan + 3 more
Source: ClinicalTrials.gov public record
Updated Feb 5, 2026 · Synced Oct 23, 2026, 8:59 PM EDT
Completed Phase 2Phase 3 Interventional Results available

Stem Cell Transplant for Hemoglobinopathy

NCT00176852
View directory record Official record
Conditions
Sickle Cell Disease, Thalassemia, Severe Congenital Neutropenia, Diamond-Blackfan Anemia, Shwachman-Diamond Syndrome
Interventions
Busulfan, Fludarabine, ATG, TLI, Busulfan, Cyclophosphamide, ATG, GCSF, Campath, Fludarabine, Cyclophosphamide, Total Body Irradiation, Stem cell infusion
Drug · Radiation · Procedure
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Up to 50 Years
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2002 – 2020
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Feb 27, 2020 · Synced Oct 23, 2026, 8:59 PM EDT
Completed No phase listed Observational

Genetics of Hyperuricemia Therapy in Hmong

NCT02371421
View directory record Official record
Conditions
Hyperuricemia, Gout
Interventions
Allopurinol
Drug
Lead sponsor
University of Minnesota
Other
Eligibility
18 Years and older
Enrollment
80 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jul 15, 2019 · Synced Oct 23, 2026, 8:59 PM EDT
Active, not recruiting No phase listed Observational Accepts healthy volunteers

A Natural History Study to TRACK Brain and Spinal Cord Changes in Individuals with Friedreich Ataxia (TRACK-FA)

NCT04349514
View directory record Official record
Conditions
Friedreich Ataxia
Interventions
Natural history
Other
Lead sponsor
Monash University
Other
Eligibility
5 Years and older
Enrollment
300 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2025
U.S. locations
3
States / cities
Gainesville, Florida • Minneapolis, Minnesota • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Nov 27, 2024 · Synced Oct 23, 2026, 8:59 PM EDT
Completed Phase 3 Interventional Results available

Long Term, Follow-on Study of Lomitapide in Patients With Homozygous Familial Hypercholesterolemia

NCT00943306
View directory record Official record
Conditions
Familial Hypercholesterolemia
Interventions
lomitapide
Drug
Lead sponsor
Aegerion Pharmaceuticals, Inc.
Industry
Eligibility
18 Years and older
Enrollment
19 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2014
U.S. locations
2
States / cities
Los Angeles, California • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jun 13, 2018 · Synced Oct 23, 2026, 8:59 PM EDT
Completed Phase 3 Interventional Results available

Evaluate the Long-Term Safety and Efficacy of Evinacumab in Patients With Homozygous Familial Hypercholesterolemia

NCT03409744
View directory record Official record
Conditions
Homozygous Familial Hypercholesterolemia
Interventions
evinacumab
Drug
Lead sponsor
Regeneron Pharmaceuticals
Industry
Eligibility
12 Years and older
Enrollment
116 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2023
U.S. locations
9
States / cities
Los Angeles, California • Boca Raton, Florida • Boston, Massachusetts + 5 more
Source: ClinicalTrials.gov public record
Updated Apr 8, 2025 · Synced Oct 23, 2026, 8:59 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Evaluation and Management of Metabolic Bone Disease in Kidney Transplant Recipients

NCT03958409
View directory record Official record
Conditions
Skeletal Anomalies, Kidney Transplant; Complications
Interventions
measurements to evaluate metabolic bone disease, standard care
Diagnostic Test
Lead sponsor
Yale University
Other
Eligibility
30 Years to 65 Years
Enrollment
8 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2021
U.S. locations
1
States / cities
New Haven, Connecticut
Source: ClinicalTrials.gov public record
Updated Feb 28, 2023 · Synced Oct 23, 2026, 8:59 PM EDT