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ClinicalTrials.gov public records Last synced Oct 14, 2026, 8:30 AM EDT

Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.

Showing 217–240 of 1,608 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Metabolism, Inborn Errors Clear all
Recruiting No phase listed Observational Accepts healthy volunteers

Study of Skeletal Disorders

NCT05031507
View directory record Official record
Conditions
Skeletal Disorders
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
2 Months to 100 Years
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2027
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 20, 2026 · Synced Oct 14, 2026, 8:30 AM EDT
Completed No phase listed Observational

Identification of Tongue Involvement in Late-Onset Pompe Disease

NCT02765828
View directory record Official record
Conditions
Myopathy, Neuropathy, Glycogen Storage Disease Type II (Late-onset Pompe Disease)
Interventions
Observational study
Other
Lead sponsor
Duke University
Other
Eligibility
12 Years and older
Enrollment
73 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2019
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 6, 2021 · Synced Oct 14, 2026, 8:30 AM EDT
Completed Phase 3 Interventional Results available

A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms

NCT00701415
View directory record Official record
Conditions
Fabry Disease
Interventions
Agalsidase beta
Biological
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
5 Years to 18 Years · Male only
Enrollment
31 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2015
U.S. locations
3
States / cities
Decatur, Georgia • Cincinnati, Ohio • Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Jun 29, 2016 · Synced Oct 14, 2026, 8:30 AM EDT
Completed Not applicable Interventional

Improving Diagnosis and Clinical Management of Familial Hypercholesterolemia Through Integrated Machine Learning, Implementation Science, and Behavioral Economics

NCT05746247
View directory record Official record
Conditions
Familial Hypercholesterolemia
Interventions
Testing centralized referral mechanism for PCPs, Inviting patients to complete a telehealth appointment with a lipid specialist for an FH evaluation
Behavioral
Lead sponsor
University of Pennsylvania
Other
Eligibility
18 Years and older
Enrollment
610 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2026
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Aug 20, 2026 · Synced Oct 14, 2026, 8:30 AM EDT
Recruiting No phase listed Observational

An Observational Study of Carbaglu® for the Treatment of MMA and PA in Adults and Pediatrics

NCT05040178
View directory record Official record
Conditions
Hyperammonemia, Methylmalonic Acidemia, Propionic Acidemia
Interventions
Carglumic Acid
Drug
Lead sponsor
RECORDATI GROUP
Industry
Eligibility
Not listed
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2032
U.S. locations
5
States / cities
Washington D.C., District of Columbia • Tampa, Florida • Chicago, Illinois + 2 more
Source: ClinicalTrials.gov public record
Updated Apr 15, 2025 · Synced Oct 14, 2026, 8:30 AM EDT
Completed Phase 2 Interventional

Study to Evaluate sUA-Lowering Activity, Safety & PK Interaction of Oral BCX4208 & Allopurinol Admin. in Subjects w/Gout

NCT01129648
View directory record Official record
Conditions
Gout
Interventions
Placebo, Allopurinol, BCX4208
Drug
Lead sponsor
BioCryst Pharmaceuticals
Industry
Eligibility
18 Years to 69 Years
Enrollment
87 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010
U.S. locations
18
States / cities
Scottsdale, Arizona • Irvine, California • South Miami, Florida + 15 more
Source: ClinicalTrials.gov public record
Updated Jan 23, 2012 · Synced Oct 14, 2026, 8:30 AM EDT
Recruiting No phase listed Observational

Non-invasive Functional Assessment and Pathogenesis of Morquio A

NCT05284006
View directory record Official record
Conditions
Mucopolysaccharidosis IV Type A, Morquio A Syndrome, MPS IVA
Interventions
Imaging, gait analysis, growth, joint test, hearing test, questionnaire, etc.
Diagnostic Test
Lead sponsor
Nemours Children's Clinic
Other
Eligibility
Not listed
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2027
U.S. locations
1
States / cities
Wilmington, Delaware
Source: ClinicalTrials.gov public record
Updated May 13, 2026 · Synced Oct 14, 2026, 8:30 AM EDT
Completed Phase 3 Interventional

Evaluation of the Efficacy, Durability, Safety, and Tolerability of RP-G28 in Patients With Lactose Intolerance

NCT03597516
View directory record Official record
Conditions
Lactose Intolerance
Interventions
RP-G28, Placebos
Drug
Lead sponsor
Ritter Pharmaceuticals, Inc.
Industry
Eligibility
18 Years to 75 Years
Enrollment
557 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2019
U.S. locations
35
States / cities
Birmingham, Alabama • Chula Vista, California • Huntington Park, California + 31 more
Source: ClinicalTrials.gov public record
Updated Jul 8, 2019 · Synced Oct 14, 2026, 8:30 AM EDT
Terminated No phase listed Observational

Discovering New Biomarkers For Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA

NCT01733615
View directory record Official record
Conditions
Mucopolysaccharidosis Type IVA
Interventions
Not listed
Lead sponsor
Emory University
Other
Eligibility
Not listed
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2013
U.S. locations
1
States / cities
Decatur, Georgia
Source: ClinicalTrials.gov public record
Updated Sep 4, 2014 · Synced Oct 14, 2026, 8:30 AM EDT
Completed Phase 3 Interventional Results available

Review of Safety Using Rilonacept in Preventing Gout Exacerbations (RE-SURGE)

NCT00856206
View directory record Official record
Conditions
Gout
Interventions
Rilonacept, Placebo
Biological · Other
Lead sponsor
Regeneron Pharmaceuticals
Industry
Eligibility
18 Years to 80 Years
Enrollment
1,315 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2011
U.S. locations
77
States / cities
Alabaster, Alabama • Mesa, Arizona • Burbank, California + 74 more
Source: ClinicalTrials.gov public record
Updated Apr 28, 2017 · Synced Oct 14, 2026, 8:30 AM EDT
Recruiting Phase 4 Interventional

Purified Cortrophin® Gel Efficacy and Safety Study of 2 Dose Levels in Patients With Acute Gout Flares

NCT07346079
View directory record Official record
Conditions
Gout Arthritis, Gout Flare, Gout
Interventions
Purified Cortophin Gel, 40 U, Purified Cortophin Gel 80 U
Drug
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
18 Years to 90 Years
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jan 20, 2026 · Synced Oct 14, 2026, 8:30 AM EDT
Terminated Phase 1Phase 2 Interventional Results available

A Study to Evaluate Administration of SBT101 Gene Therapy in Adult Patients With Adrenomyeloneuropathy (AMN)

NCT05394064
View directory record Official record
Conditions
AMN, AMN Gene Mutation, X-ALD
Interventions
SBT101 Treatment
Genetic
Lead sponsor
SwanBio Therapeutics, Inc.
Industry
Eligibility
18 Years to 65 Years · Male only
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2025
U.S. locations
1
States / cities
Worcester, Massachusetts
Source: ClinicalTrials.gov public record
Updated Aug 26, 2026 · Synced Oct 14, 2026, 8:30 AM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Descriptive Analysis of Gut Microbiome Alterations in Hyperoxaluric Patients

NCT02794649
View directory record Official record
Conditions
Oxalate, Primary Hyperoxaluria, Microbiome
Interventions
Not listed
Lead sponsor
VA New York Harbor Healthcare System
Federal
Eligibility
18 Years to 80 Years
Enrollment
60 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2018
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Sep 26, 2017 · Synced Oct 14, 2026, 8:30 AM EDT
Completed Phase 4 Interventional

Initiation of Allopurinol at First Medical Contact for Acute Attacks of Gout

NCT01310673
View directory record Official record
Conditions
Gout, Gout Acute
Interventions
Allopurinol, Placebo
Drug
Lead sponsor
White River Junction Veterans Affairs Medical Center
Federal
Eligibility
18 Years and older · Male only
Enrollment
57 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2009
U.S. locations
1
States / cities
White River Junction, Vermont
Source: ClinicalTrials.gov public record
Updated Mar 8, 2011 · Synced Oct 14, 2026, 8:30 AM EDT
Completed Phase 3 Interventional Results available

Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets

NCT00417612
View directory record Official record
Conditions
Hypophosphatemia, Familial, Hyperparathyroidism
Interventions
Paricalcitol, Placebo
Drug · Other
Lead sponsor
Yale University
Other
Eligibility
9 Years and older
Enrollment
33 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2012
U.S. locations
1
States / cities
New Haven, Connecticut
Source: ClinicalTrials.gov public record
Updated Mar 17, 2020 · Synced Oct 14, 2026, 8:30 AM EDT
Completed Phase 2 Interventional Results available

Copper Concentration & Histopathologic Changes in Liver Biopsy in Participants With Wilson Disease Treated With ALXN1840

NCT04422431
View directory record Official record
Conditions
Wilson Disease
Interventions
Bis-Choline Tetrathiomolybdate
Drug
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
18 Years and older
Enrollment
31 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2023
U.S. locations
3
States / cities
Sacramento, California • Ann Arbor, Michigan • Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Oct 18, 2024 · Synced Oct 14, 2026, 8:30 AM 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 14, 2026, 8:30 AM 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 14, 2026, 8:30 AM EDT
Completed No phase listed Observational Results available

Screening Study to Identify Pediatric Patients With Hunter Syndrome Who Demonstrate Evidence of Central Nervous System (CNS) Involvement and Who Are Currently Receiving Treatment With Elaprase®

NCT00937794
View directory record Official record
Conditions
Hunter Syndrome
Interventions
Neurobehavioral testing, Visual and auditory assessments
Behavioral · Other
Lead sponsor
Shire
Industry
Eligibility
32 Months to 18 Years · Male only
Enrollment
33 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2011
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jun 14, 2021 · Synced Oct 14, 2026, 8:30 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Functional Evaluation in Patients With Urea Cycle Disorders (UCD) During a Driving Task

NCT07701694
View directory record Official record
Conditions
Urea Cycle Disorder
Interventions
Not listed
Lead sponsor
St. Jude Children's Research Hospital
Other
Eligibility
16 Years to 40 Years
Enrollment
60 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2026 – 2032
U.S. locations
1
States / cities
Memphis, Tennessee
Source: ClinicalTrials.gov public record
Updated Jul 31, 2026 · Synced Oct 14, 2026, 8:30 AM EDT
Completed Phase 2Phase 3 Interventional Results available

Open-Label Study of Asfotase Alfa in Infants and Children ≤ 5 Years of Age With Hypophosphatasia (HPP)

NCT01176266
View directory record Official record
Conditions
Hypophosphatasia
Interventions
asfotase alfa
Drug
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
1 Minute to 5 Years
Enrollment
69 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2016
U.S. locations
3
States / cities
Oakland, California • Cincinnati, Ohio • Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Mar 13, 2019 · Synced Oct 14, 2026, 8:30 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Fabry Screening Study

NCT01019629
View directory record Official record
Conditions
Fabry Disease
Interventions
Not listed
Lead sponsor
Baylor Research Institute
Other
Eligibility
18 Years and older
Enrollment
2,724 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2017
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Feb 13, 2018 · Synced Oct 14, 2026, 8:30 AM 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 8, 2023 · Synced Oct 14, 2026, 8:30 AM EDT
Active, not recruiting Phase 3 Interventional

Phase 3 Study of ALXN1850 in Treatment-Naïve Pediatric Participants With HPP

NCT06079359
View directory record Official record
Conditions
Hypophosphatasia
Interventions
ALXN1850, Placebo
Drug
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
2 Years to 11 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2028
U.S. locations
3
States / cities
Baltimore, Maryland • Kansas City, Missouri • Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated May 28, 2026 · Synced Oct 14, 2026, 8:30 AM EDT