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Showing 1–24 of 1,602 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Inborn Errors of Metabolism Clear all
Completed Phase 1 Interventional Accepts healthy volunteers

A Comparative Bioavailability Study of Lisinopril Tablets, 40 mg - Effect of Food Study

NCT01380431
View directory record Official record
Conditions
To Determine Bioequivalence Under Fed Conditions
Interventions
Lisinopril
Drug
Lead sponsor
Par Pharmaceutical, Inc.
Industry
Eligibility
18 Years to 50 Years · Male only
Enrollment
18 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
1999
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Jun 26, 2011 · Synced Sep 22, 2026, 10:05 PM EDT
Enrolling by invitation Phase 2 Interventional

Open-Label, Long-Term, Extension Study of Infigratinib in Children With Hypochondroplasia

NCT07393373
View directory record Official record
Conditions
Hypochondroplasia
Interventions
Infigratinib
Drug
Lead sponsor
QED Therapeutics, a BridgeBio company
Industry
Eligibility
3 Years to 18 Years
Enrollment
135 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2036
U.S. locations
8
States / cities
Oakland, California • Aurora, Colorado • Washington D.C., District of Columbia + 5 more
Source: ClinicalTrials.gov public record
Updated Aug 25, 2026 · Synced Sep 22, 2026, 10:05 PM EDT
Terminated Phase 2 Interventional Results available

Continuation Study of Long-term Safety, Tolerability, Pharmacokinetics and Efficacy of Recifercept in Achondroplasia

NCT05116046
View directory record Official record
Conditions
Achondroplasia
Interventions
Recifercept
Biological
Lead sponsor
Pfizer
Industry
Eligibility
15 Months to 12 Years
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
6
States / cities
Irvine, California • Long Beach, California • Torrance, California + 2 more
Source: ClinicalTrials.gov public record
Updated Feb 7, 2024 · Synced Sep 22, 2026, 10:05 PM EDT
Completed No phase listed Observational

Antiproteinuric Agents and Fabry Disease

NCT00343577
View directory record Official record
Conditions
Fabry Disease, Proteinuria
Interventions
Not listed
Lead sponsor
University of Alabama at Birmingham
Other
Eligibility
14 Years to 95 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2001 – 2006
U.S. locations
1
States / cities
Birmingham, Alabama
Source: ClinicalTrials.gov public record
Updated Nov 18, 2013 · Synced Sep 22, 2026, 10:05 PM EDT
Terminated Phase 1Phase 2 Interventional

A Safety and Efficacy Study of LYS-GM101 Gene Therapy in Patients With GM1 Gangliosidosis

NCT04273269
View directory record Official record
Conditions
GM1 Gangliosidosis
Interventions
LYS-GM101
Genetic
Lead sponsor
LYSOGENE
Industry
Eligibility
Up to 3 Years
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
1
States / cities
Orange, California
Source: ClinicalTrials.gov public record
Updated Jun 8, 2023 · Synced Sep 22, 2026, 10:05 PM EDT
Completed No phase listed Observational

Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease

NCT00351156
View directory record Official record
Conditions
Gaucher Disease
Interventions
Blood sample
Procedure
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
Not listed
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2007
U.S. locations
7
States / cities
San Francisco, California • Coral Springs, Florida • Decatur, Georgia + 4 more
Source: ClinicalTrials.gov public record
Updated Aug 18, 2010 · Synced Sep 22, 2026, 10:05 PM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

Taste Evaluation of Different Liquid Formulations With Eliglustat

NCT02422654
View directory record Official record
Conditions
Gaucher Disease
Interventions
eliglustat
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
18 Years to 55 Years
Enrollment
8 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015
U.S. locations
1
States / cities
Evansville, Indiana
Source: ClinicalTrials.gov public record
Updated May 26, 2015 · Synced Sep 22, 2026, 10:05 PM EDT
Completed No phase listed Observational Results available

A Phase 3 Substudy to Evaluate Executive Function in Adults With PKU Who Are Participating in the Phase 3 Study, 165-302

NCT02468570
View directory record Official record
Conditions
Phenylketonuria
Interventions
Administration of CANTAB and Subject Global Assessment
Other
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
18 Years to 70 Years
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2017
U.S. locations
4
States / cities
Lexington, Kentucky • Omaha, Nebraska • Oklahoma City, Oklahoma + 1 more
Source: ClinicalTrials.gov public record
Updated Jun 3, 2020 · Synced Sep 22, 2026, 10:05 PM EDT
Completed Phase 3 Interventional Results available

Safety and Efficacy of Tafamidis in Patients With Transthyretin Cardiomyopathy

NCT01994889
View directory record Official record
Conditions
Transthyretin (TTR) Amyloid Cardiomyopathy
Interventions
Tafamidis, Placebo
Drug
Lead sponsor
Pfizer
Industry
Eligibility
18 Years to 90 Years
Enrollment
441 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2018
U.S. locations
50
States / cities
Birmingham, Alabama • Phoenix, Arizona • Scottsdale, Arizona + 24 more
Source: ClinicalTrials.gov public record
Updated Apr 23, 2019 · Synced Sep 22, 2026, 10:05 PM EDT
Terminated Not applicable Interventional Accepts healthy volunteers Results available

A Pilot Study on Diurnal Variation

NCT01806051
View directory record Official record
Conditions
Phenylketonuria (PKU)
Interventions
Kuvan
Drug
Lead sponsor
Dr. Linda Randolph
Other
Eligibility
4 Years and older
Enrollment
6 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2014
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Apr 19, 2016 · Synced Sep 22, 2026, 10:05 PM EDT
Active, not recruiting Phase 1Phase 2 Interventional

Gene Therapy Study for Children With CLN5 Batten Disease

NCT05228145
View directory record Official record
Conditions
Neuronal Ceroid Lipofuscinosis CLN5
Interventions
NGN-101
Genetic
Lead sponsor
Neurogene Inc.
Industry
Eligibility
3 Years to 9 Years
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2028
U.S. locations
1
States / cities
Rochester, New York
Source: ClinicalTrials.gov public record
Updated Aug 11, 2024 · Synced Sep 22, 2026, 10:05 PM EDT
Completed Phase 1Phase 2 Interventional Results available

First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221

NCT02675465
View directory record Official record
Conditions
Pompe Disease
Interventions
ATB200, AT2221
Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
18 Years to 75 Years
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2024
U.S. locations
12
States / cities
Phoenix, Arizona • Orange, California • Gainesville, Florida + 9 more
Source: ClinicalTrials.gov public record
Updated Oct 22, 2025 · Synced Sep 22, 2026, 10:05 PM EDT
Not yet recruiting Not applicable Interventional Accepts healthy volunteers

Study to Investigate the Efficacy of a Digestive Health Dietary Supplement on Post-meal Bloating in Healthy Participants

NCT07516587
View directory record Official record
Conditions
Digestive Health, Abdominal Discomfort, Gas and Bloating
Interventions
Bloat Gummies, Placebo
Dietary Supplement
Lead sponsor
Arrae
Industry
Eligibility
18 Years to 65 Years
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2026
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Apr 12, 2026 · Synced Sep 22, 2026, 10:05 PM EDT
Completed Phase 3 Interventional Accepts healthy volunteers

Improved Diagnosis of Familial Hypercholesterolemia Across the Northland (ID-FH)

NCT05238519
View directory record Official record
Conditions
Familial Hypercholesterolemia, Cholesterol, Elevated, Genetic Disease
Interventions
Motivational interview (MI)
Behavioral
Lead sponsor
Essentia Health
Other
Eligibility
2 Years to 75 Years
Enrollment
257 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2025
U.S. locations
2
States / cities
Duluth, Minnesota
Source: ClinicalTrials.gov public record
Updated Sep 3, 2026 · Synced Sep 22, 2026, 10:05 PM EDT
Completed Phase 2 Interventional Results available

Pegylated Recombinant Mammalian Uricase (PEG-uricase) as Treatment for Refractory Gout

NCT00111657
View directory record Official record
Conditions
Gout
Interventions
Pegloticase
Biological
Lead sponsor
John Sundy
Other
Eligibility
18 Years and older
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2009
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Oct 2, 2014 · Synced Sep 22, 2026, 10:05 PM EDT
Completed Phase 3 Interventional Results available

A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe Disease

NCT00158600
View directory record Official record
Conditions
Pompe Disease (Late-onset), Glycogen Storage Disease Type II (GSD-II), Acid Maltase Deficiency Disease, Glycogenosis 2
Interventions
alglucosidase alfa, Placebo
Biological · Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
8 Years and older
Enrollment
90 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2007
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 Apr 27, 2015 · Synced Sep 22, 2026, 10:05 PM EDT
Completed Phase 2 Interventional Results available

Safety, Tolerability, and Efficacy Study of rAvPAL-PEG Administered Daily in Subjects With Phenylketonuria (PKU)

NCT01212744
View directory record Official record
Conditions
Phenylketonuria
Interventions
rAvPAL-PEG
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
16 Years to 70 Years
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2015
U.S. locations
9
States / cities
Aurora, Colorado • Gainesville, Florida • Louisville, Kentucky + 6 more
Source: ClinicalTrials.gov public record
Updated Feb 25, 2019 · Synced Sep 22, 2026, 10:05 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 24, 2013 · Synced Sep 22, 2026, 10:05 PM EDT
Completed Phase 1 Interventional

Effect of ACP-501 on Safety, Tolerability, Pharmacokinetics and Pharmacodynamics in Subjects With Coronary Artery Disease

NCT01554800
View directory record Official record
Conditions
Coronary Artery Disease, Atherosclerosis
Interventions
ACP-501
Drug
Lead sponsor
MedImmune LLC
Industry
Eligibility
30 Years to 85 Years
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 13, 2019 · Synced Sep 22, 2026, 10:05 PM EDT
Active, not recruiting Phase 1Phase 2 Interventional

Gene Therapy for Children With CLN3 Batten Disease

NCT03770572
View directory record Official record
Conditions
CLN3, Batten Disease
Interventions
Low dose CLN-301, High dose CLN-301
Genetic
Lead sponsor
Neela Therapeutics
Industry
Eligibility
3 Years to 10 Years
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2029
U.S. locations
1
States / cities
Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Jun 9, 2026 · Synced Sep 22, 2026, 10:05 PM EDT
Withdrawn Not applicable Interventional

Cholestanol in Humans

NCT00018694
View directory record Official record
Conditions
Cerebrotendinous Xanthomatosis
Interventions
Chenodeoxycholic Acid
Drug
Lead sponsor
US Department of Veterans Affairs
Federal
Eligibility
5 Years to 80 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
1999 – 2009
U.S. locations
1
States / cities
East Orange, New Jersey
Source: ClinicalTrials.gov public record
Updated Oct 13, 2013 · Synced Sep 22, 2026, 10:05 PM EDT
Completed Phase 2 Interventional Results available

Orlistat for the Treatment of Type I Hyperlipoproteinemia

NCT02767531
View directory record Official record
Conditions
Hyperlipoproteinemia Type I, Hypertriglyceridemia
Interventions
Orlistat
Drug
Lead sponsor
University of Texas Southwestern Medical Center
Other
Eligibility
8 Years to 18 Years
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2022
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Feb 7, 2023 · Synced Sep 22, 2026, 10:05 PM EDT
Completed Not applicable Interventional

A Randomized Controlled Study of the Efficacy and Safety of Maintenance Treatment With Oral Ganciclovir for Newly Diagnosed Cytomegalovirus Retinitis in People With AIDS

NCT00002257
View directory record Official record
Conditions
Cytomegalovirus Retinitis, HIV Infections
Interventions
Ganciclovir
Drug
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
13 Years and older
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
12
States / cities
Berkeley, California • San Francisco, California • Washington D.C., District of Columbia + 6 more
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Sep 22, 2026, 10:05 PM EDT
Completed Phase 2 Interventional Results available

A Study of LJPC-401 for the Treatment of Iron Overload in Adult Patients With Hereditary Hemochromatosis

NCT03395704
View directory record Official record
Conditions
Hereditary Hemochromatosis
Interventions
LJPC-401, Placebo
Drug
Lead sponsor
La Jolla Pharmaceutical Company
Industry
Eligibility
18 Years and older
Enrollment
70 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2019
U.S. locations
18
States / cities
North Little Rock, Arkansas • Los Angeles, California • Palo Alto, California + 15 more
Source: ClinicalTrials.gov public record
Updated Jun 8, 2022 · Synced Sep 22, 2026, 10:05 PM EDT