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ClinicalTrials.gov public records Last synced Oct 10, 2026, 2:02 PM EDT

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Showing 121–144 of 1,605 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Inborn Errors of Metabolism Clear all
Completed Phase 2Phase 3 Interventional

Clinical Benefit, Safety, PK and PD Study of AT-007 in Pediatric Subjects With Classic Galactosemia

NCT04902781
View directory record Official record
Conditions
Classic Galactosemia
Interventions
AT-007, Placebo
Drug · Other
Lead sponsor
Applied Therapeutics, Inc.
Industry
Eligibility
2 Years to 17 Years
Enrollment
47 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
3
States / cities
Aurora, Colorado • Atlanta, Georgia • Ann Arbor, Michigan
Source: ClinicalTrials.gov public record
Updated Oct 29, 2025 · Synced Oct 10, 2026, 2:02 PM EDT
Completed Phase 2 Interventional

Phase II Pilot Randomized Study of Sodium Dichloroacetate in Patients With Congenital Lactic Acidemia

NCT00004493
View directory record Official record
Conditions
Lactic Acidosis
Interventions
sodium dichloroacetate
Drug
Lead sponsor
University of California, San Diego
Other
Eligibility
3 Months and older
Enrollment
75 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2003
U.S. locations
1
States / cities
La Jolla, California
Source: ClinicalTrials.gov public record
Updated Mar 25, 2015 · Synced Oct 10, 2026, 2:02 PM EDT
Completed Phase 4 Interventional Accepts healthy volunteers Results available

Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS)

NCT01831934
View directory record Official record
Conditions
MELAS Syndrome
Interventions
Fluzone®
Biological
Lead sponsor
Stanford University
Other
Eligibility
13 Years to 65 Years
Enrollment
22 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2010 – 2012
U.S. locations
1
States / cities
Stanford, California
Source: ClinicalTrials.gov public record
Updated May 30, 2017 · Synced Oct 10, 2026, 2:02 PM EDT
Completed Phase 1 Interventional

Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic Rickets

NCT00195936
View directory record Official record
Conditions
Hypophosphatemic Rickets, X-Linked Dominant
Interventions
Cinacalcet
Drug
Lead sponsor
Children's Mercy Hospital Kansas City
Other
Eligibility
5 Years and older
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2008
U.S. locations
1
States / cities
Kansas City, Missouri
Source: ClinicalTrials.gov public record
Updated Jan 19, 2021 · Synced Oct 10, 2026, 2:02 PM EDT
Withdrawn Phase 1 Interventional

A Phase I Study of Pyrimethamine in Patients With GM2 Gangliosidosis

NCT00679744
View directory record Official record
Conditions
G(M2) Ganglioside, Tay-Sachs Disease Ganglioside, Sandhoff Disease Ganglioside
Interventions
Pyrimethamine
Drug
Lead sponsor
Exsar Corporation
Industry
Eligibility
18 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2008
U.S. locations
2
States / cities
New York, New York • Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Feb 25, 2013 · Synced Oct 10, 2026, 2:02 PM EDT
Terminated No phase listed Observational

Long Term Follow-up (LTFU) of Subjects Who Received SB-318, SB-913, or SB-FIX

NCT04628871
View directory record Official record
Conditions
Hemophilia B, Mucopolysaccharidosis I, Mucopolysaccharidosis II
Interventions
SB-318, SB-913, SB-FIX
Biological
Lead sponsor
Sangamo Therapeutics
Industry
Eligibility
18 Years and older
Enrollment
13 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2026
U.S. locations
5
States / cities
Oakland, California • Chicago, Illinois • New York, New York + 2 more
Source: ClinicalTrials.gov public record
Updated Aug 13, 2026 · Synced Oct 10, 2026, 2:02 PM EDT
Completed No phase listed Observational Results available

A Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA)

NCT01047306
View directory record Official record
Conditions
Sanfilippo Syndrome Type A
Interventions
assessment
Other
Lead sponsor
Shire
Industry
Eligibility
1 Year and older
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2013
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jun 11, 2021 · Synced Oct 10, 2026, 2:02 PM EDT
Completed No phase listed Observational

Drug Use Study of Febuxostat After Recent Changes in the Prescribing Information

NCT04853160
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Apr 27, 2021 · Synced Oct 10, 2026, 2:02 PM EDT
Completed No phase listed Observational

The Effects of Respiratory Muscle Strength Training (RMST) on Inspiratory and Expiratory Muscle Strength in Adults and Children With Pompe Disease

NCT01701154
View directory record Official record
Conditions
Pompe Disease
Interventions
respiratory muscle strength training
Other
Lead sponsor
Duke University
Other
Eligibility
3 Years to 99 Years
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2012
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated May 30, 2023 · Synced Oct 10, 2026, 2:02 PM EDT
Terminated No phase listed Observational Accepts healthy volunteers

Collection of Cerebrospinal Fluid in Healthy Children

NCT01698229
View directory record Official record
Conditions
Late Infantile Neuronal Ceroid Lipofuscinosis, Batten Disease
Interventions
Group 1
Other
Lead sponsor
Weill Medical College of Cornell University
Other
Eligibility
2 Years to 8 Years
Enrollment
32 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2015
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated May 4, 2016 · Synced Oct 10, 2026, 2:02 PM EDT
Completed Phase 3 Interventional Results available

A Study of Enlicitide Decanoate (MK-0616 Oral PCSK9 Inhibitor) in Adults With Hypercholesterolemia (MK-0616-013) CORALreef Lipids

NCT05952856
View directory record Official record
Conditions
Hypercholesterolemia, Familial Hypercholesterolemia
Interventions
Enlicitide Decanoate, Placebo
Drug
Lead sponsor
Merck Sharp & Dohme LLC
Industry
Eligibility
18 Years and older
Enrollment
2,912 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
49
States / cities
Daphne, Alabama • Foley, Alabama • Phoenix, Arizona + 45 more
Source: ClinicalTrials.gov public record
Updated Sep 24, 2026 · Synced Oct 10, 2026, 2:02 PM EDT
Recruiting Not applicable Interventional

Dose Response of Exercise for Arthritis Management

NCT06880653
View directory record Official record
Conditions
Arthritis, Rheumatoid Arthritis (RA), Gout, Fibromyalgia (FM), Osteoarthritis, Lupus Erythematosus, Systemic
Interventions
DREAM Adaptive Intervention
Behavioral
Lead sponsor
University of South Carolina
Other
Eligibility
18 Years and older
Enrollment
285 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2029
U.S. locations
1
States / cities
Columbia, South Carolina
Source: ClinicalTrials.gov public record
Updated Apr 3, 2026 · Synced Oct 10, 2026, 2:02 PM EDT
Recruiting No phase listed Observational

Hepatic Histopathology in Urea Cycle Disorders

NCT04908319
View directory record Official record
Conditions
Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency, Citrullinemia 1, ARGI Deficiency, ASL Deficiency, Argininosuccinic Aciduria, ASS Deficiency, Hyperargininemia, Carbamyl Phosphate Synthetase Deficiency, NAGS Deficiency
Interventions
Not listed
Lead sponsor
Baylor College of Medicine
Other
Eligibility
Not listed
Enrollment
70 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2026
U.S. locations
2
States / cities
Washington D.C., District of Columbia • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jul 20, 2025 · Synced Oct 10, 2026, 2:02 PM EDT
Completed No phase listed Observational Results available

Chronic Liver Disease in Urea Cycle Disorders

NCT03721367
View directory record Official record
Conditions
Urea Cycle Disorder
Interventions
Diagnostic Ultrasound
Other
Lead sponsor
Baylor College of Medicine
Other
Eligibility
5 Years to 60 Years
Enrollment
28 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2020
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Feb 10, 2023 · Synced Oct 10, 2026, 2:02 PM EDT
Completed Phase 3 Interventional Results available

A Study of Enlicitide Decanoate (MK-0616 Oral PCSK9 Inhibitor) in Adults With Heterozygous Familial Hypercholesterolemia (MK-0616-017/CORALreef HeFH)

NCT05952869
View directory record Official record
Conditions
Hypercholesterolemia, Familial Hypercholesterolemia
Interventions
Enlicitide Decanoate, Placebo
Drug
Lead sponsor
Merck Sharp & Dohme LLC
Industry
Eligibility
18 Years and older
Enrollment
303 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
13
States / cities
Daphne, Alabama • Boca Raton, Florida • Cutler Bay, Florida + 10 more
Source: ClinicalTrials.gov public record
Updated Feb 24, 2026 · Synced Oct 10, 2026, 2:02 PM EDT
Active, not recruiting Phase 1Phase 2 Interventional

A Phase 1/Phase 2 Open-label Study to Evaluate the Safety, Tolerability, and Efficacy of a Single Intravenous Administration of SAR444836 in Adult Participants With Phenylketonuria

NCT05972629
View directory record Official record
Conditions
Phenylketonuria
Interventions
SAR444836
Drug
Lead sponsor
Sanofi
Industry
Eligibility
18 Years to 65 Years
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2030
U.S. locations
7
States / cities
San Francisco, California • Aurora, Colorado • Gainesville, Florida + 4 more
Source: ClinicalTrials.gov public record
Updated Sep 23, 2025 · Synced Oct 10, 2026, 2:02 PM EDT
Completed No phase listed Observational Accepts healthy volunteers Results available

PCORI Urea Cycle Disorder Study

NCT02740153
View directory record Official record
Conditions
Urea Cycle Disorders
Interventions
No Intervention Given
Other
Lead sponsor
Children's National Research Institute
Other
Eligibility
Up to 18 Years
Enrollment
187 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2020
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated Jan 26, 2021 · Synced Oct 10, 2026, 2:02 PM EDT
Completed Phase 3 Interventional

Phase III Ganciclovir +/- rGM-CSF for AIDS-Related CMV Retinitis

NCT00002070
View directory record Official record
Conditions
Cytomegalovirus Retinitis, HIV Infections
Interventions
Sargramostim, Ganciclovir
Drug
Lead sponsor
Schering-Plough
Industry
Eligibility
18 Years and older
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
14
States / cities
Los Angeles, California • San Francisco, California • Sherman Oaks, California + 7 more
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 10, 2026, 2:02 PM EDT
Active, not recruiting Phase 1Phase 2 Interventional

Study of Safety, Tolerability and Efficacy of PBGM01 in Pediatric Participants With GM1 Gangliosidosis

NCT04713475
View directory record Official record
Conditions
GM1 Gangliosidosis, GM1 Gangliosidosis, Type I, GM1 Gangliosidosis, Type 2, Beta-Galactosidase-1 (GLB1) Deficiency
Interventions
PBGM01
Biological
Lead sponsor
Gemma Biotherapeutics
Industry
Eligibility
1 Month to 24 Months
Enrollment
26 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2029
U.S. locations
4
States / cities
Oakland, California • Minneapolis, Minnesota • New Brunswick, New Jersey + 1 more
Source: ClinicalTrials.gov public record
Updated Jun 30, 2026 · Synced Oct 10, 2026, 2:02 PM EDT
Recruiting Phase 2Phase 3 Interventional

Study of Dapansutrile Tablets in Subjects With an Acute Gout Flare

NCT05658575
View directory record Official record
Conditions
Acute Gout Flare, Gout Attack, Gout Flare, Gouty Arthritis, Gout, Arthritis, Joint Pain
Interventions
Dapansutrile, Placebo Tablet
Drug · Other
Lead sponsor
Olatec Therapeutics, Inc.
Industry
Eligibility
18 Years and older
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
25
States / cities
Birmingham, Alabama • Glendale, Arizona • Mesa, Arizona + 21 more
Source: ClinicalTrials.gov public record
Updated Mar 11, 2026 · Synced Oct 10, 2026, 2:02 PM EDT
Completed Phase 1Phase 2 Interventional

Congenital Adrenal Hyperplasia: Calcium Channels as Therapeutic Targets

NCT00000102
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia
Interventions
Nifedipine
Drug
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
14 Years to 35 Years
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
1
States / cities
Charleston, South Carolina
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 10, 2026, 2:02 PM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

Study to Investigate the Effects of Food on Relative Bioavailability of ABP-671 Tablets in Healthy Subjects

NCT04303039
View directory record Official record
Conditions
Gout, Food-drug Interaction
Interventions
ABP-671
Drug
Lead sponsor
Atom Therapeutics Co., Ltd
Industry
Eligibility
18 Years to 60 Years
Enrollment
12 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Jun 23, 2020 · Synced Oct 10, 2026, 2:02 PM EDT
Recruiting No phase listed Observational

Long-term Follow-up (LTFU) Study of Participants in Any iECURE Protocol Using an Investigational Product (IP)

NCT06805695
View directory record Official record
Conditions
Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease, Urea Cycle Disorders, Inborn
Interventions
No Intervention
Other
Lead sponsor
iECURE, Inc.
Industry
Eligibility
7 Months to 15 Months
Enrollment
13 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2041
U.S. locations
2
States / cities
Aurora, Colorado • New York, New York
Source: ClinicalTrials.gov public record
Updated Aug 31, 2026 · Synced Oct 10, 2026, 2:02 PM EDT
Completed No phase listed Observational

Identifying and Genotyping Homozygous Familial Hypercholesterolemia (HoFH) Patients

NCT04148001
View directory record Official record
Conditions
Homozygous Familial Hypercholesterolemia (HoFH)
Interventions
Not listed
Lead sponsor
REGENXBIO Inc.
Industry
Eligibility
18 Years and older
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2020
U.S. locations
1
States / cities
Boca Raton, Florida
Source: ClinicalTrials.gov public record
Updated Feb 2, 2021 · Synced Oct 10, 2026, 2:02 PM EDT