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ClinicalTrials.gov public records Last synced Oct 25, 2026, 6:20 AM EDT

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Showing 553–576 of 1,510 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Inborn Errors of Metabolism Disorders Clear all
Recruiting No phase listed Observational

HoFH, the International Clinical Collaborators Registry

NCT04815005
View directory record Official record
Conditions
Homozygous Familial Hypercholesterolemia
Interventions
Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.
Other
Lead sponsor
University of Pennsylvania
Other
Eligibility
Not listed
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2026
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Dec 18, 2025 · Synced Oct 25, 2026, 6:20 AM EDT
Completed No phase listed Observational

Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment

NCT02311283
View directory record Official record
Conditions
Urea Cycle Disorders
Interventions
Not listed
Lead sponsor
University of South Florida
Other
Eligibility
Not listed
Enrollment
87 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
1
States / cities
Tampa, Florida
Source: ClinicalTrials.gov public record
Updated Mar 7, 2018 · Synced Oct 25, 2026, 6:20 AM EDT
Completed Phase 3 Interventional

Carotid B-Mode Ultrasound Study to Compare Anti-Atherosclerotic Effect of Torcetrpib/Atorvastatin to Atorvastatin Alone.

NCT00136981
View directory record Official record
Conditions
Hypercholesterolemia, Familial, Hyperlipidemia
Interventions
torcetrapib/atorvastatin, atorvastatin
Drug
Lead sponsor
Pfizer
Industry
Eligibility
18 Years to 70 Years
Enrollment
800 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2006
U.S. locations
7
States / cities
Hartford, Connecticut • Boston, Massachusetts • Minneapolis, Minnesota + 4 more
Source: ClinicalTrials.gov public record
Updated Apr 22, 2015 · Synced Oct 25, 2026, 6:20 AM EDT
Completed Phase 1Phase 2 Interventional Results available

A Study of PTC923 (CNSA-001) in Primary Tetrahydrobiopterin (BH4) Deficient Participants With Hyperphenylalaninemia

NCT03519711
View directory record Official record
Conditions
BH4 Deficiency, Hyperphenylalaninemia
Interventions
PTC923
Drug
Lead sponsor
PTC Therapeutics
Industry
Eligibility
12 Months and older
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2020
U.S. locations
4
States / cities
Minneapolis, Minnesota • Dallas, Texas • Salt Lake City, Utah + 1 more
Source: ClinicalTrials.gov public record
Updated Nov 14, 2023 · Synced Oct 25, 2026, 6:20 AM EDT
Recruiting Phase 3 Interventional

A Study of Dotinurad Versus Allopurinol in Participants With Gout

NCT07089875
View directory record Official record
Conditions
Gout
Interventions
Allopurinol, Dotinurad
Drug
Lead sponsor
Crystalys Therapeutics
Industry
Eligibility
18 Years to 75 Years
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
95
States / cities
Birmingham, Alabama • Foley, Alabama • Gilbert, Arizona + 86 more
Source: ClinicalTrials.gov public record
Updated Sep 28, 2026 · Synced Oct 25, 2026, 6:20 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism

NCT04201067
View directory record Official record
Conditions
Congenital Disorders of Glycosylation
Interventions
Not listed
Lead sponsor
Mayo Clinic
Other
Eligibility
Not listed
Enrollment
240 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2025
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Oct 3, 2025 · Synced Oct 25, 2026, 6:20 AM EDT
Withdrawn Phase 2 Interventional

Alipogene Tiparvovec for the Treatment of LPLD Patients

NCT02904772
View directory record Official record
Conditions
LPL Deficiency
Interventions
alipogene tiparvovec, Prednisolone, Cyclosporins, Mycophenolate mofetil
Drug
Lead sponsor
UniQure Biopharma B.V.
Industry
Eligibility
18 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2020
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Aug 17, 2017 · Synced Oct 25, 2026, 6:20 AM EDT
Completed Phase 3 Interventional Results available

Safety and Efficacy Study of PEG-uricase in the Treatment of Hyperuricemic Patients With Symptomatic Gout

NCT00325195
View directory record Official record
Conditions
Gout
Interventions
placebo, pegloticase
Other · Biological
Lead sponsor
Savient Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
225 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2007
U.S. locations
50
States / cities
Birmingham, Alabama • Tucson, Arizona • Jonesboro, Arkansas + 45 more
Source: ClinicalTrials.gov public record
Updated Feb 28, 2011 · Synced Oct 25, 2026, 6:20 AM EDT
Completed Not applicable Interventional

Safety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease.

NCT02654886
View directory record Official record
Conditions
Pompe Disease, Muscle Weakness
Interventions
Resistance Exercise Training
Other
Lead sponsor
University of California, Irvine
Other
Eligibility
16 Years to 75 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2019
U.S. locations
1
States / cities
Irvine, California
Source: ClinicalTrials.gov public record
Updated Sep 26, 2019 · Synced Oct 25, 2026, 6:20 AM EDT
Completed No phase listed Observational

Study of Glycogen Storage Disease Expression in Carriers

NCT02057731
View directory record Official record
Conditions
Glycogen Storage Disease
Interventions
Glycogen Storage Disease markers
Genetic
Lead sponsor
University of Florida
Other
Eligibility
18 Years to 100 Years
Enrollment
114 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
1
States / cities
Gainesville, Florida
Source: ClinicalTrials.gov public record
Updated Dec 2, 2016 · Synced Oct 25, 2026, 6:20 AM EDT
Completed Phase 4 Interventional Results available

A Trial to Investigate the Non-inferiority of Pegloticase Administered Every 4 Weeks (Q4W) With MTX Compared With Every 2 Weeks (Q2W) With MTX in Participants With Uncontrolled Refractory Gout

NCT06229145
View directory record Official record
Conditions
Gout
Interventions
Pegloticase, Methotrexate
Biological · Drug
Lead sponsor
Amgen
Industry
Eligibility
18 Years and older
Enrollment
306 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
74
States / cities
Birmingham, Alabama • Anchorage, Alaska • Chandler, Arizona + 63 more
Source: ClinicalTrials.gov public record
Updated Sep 17, 2026 · Synced Oct 25, 2026, 6:20 AM EDT
Not listed No phase listed Observational

Pulmonary Disease and Exercise Tolerance in Boys With Fabry Disease

NCT01304875
View directory record Official record
Conditions
Fabry Disease
Interventions
Not listed
Lead sponsor
Cedars-Sinai Medical Center
Other
Eligibility
8 Years to 18 Years · Male only
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2010
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Jun 27, 2013 · Synced Oct 25, 2026, 6:20 AM EDT
Terminated Phase 2 Interventional Results available

A Phase 2 Study to Evaluate the Safety, Efficacy and PK of Tildacerfont in Children Aged 2-17 Years With CAH

NCT05128942
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia, 21-OHD
Interventions
Tildacerfont
Drug
Lead sponsor
Spruce Biosciences
Industry
Eligibility
2 Years and older
Enrollment
67 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
13
States / cities
Sacramento, California • San Diego, California • Chicago, Illinois + 10 more
Source: ClinicalTrials.gov public record
Updated Dec 24, 2025 · Synced Oct 25, 2026, 6:20 AM EDT
Completed Phase 2 Interventional Results available

A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 Weeks

NCT01560286
View directory record Official record
Conditions
Phenylketonuria
Interventions
BMN 165 (rAvPAL-PEG)
Biological
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
16 Years to 70 Years
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2015
U.S. locations
6
States / cities
Aurora, Colorado • Gainesville, Florida • Boston, Massachusetts + 3 more
Source: ClinicalTrials.gov public record
Updated Aug 6, 2019 · Synced Oct 25, 2026, 6:20 AM EDT
Suspended Not applicable Interventional

The PhOCus Trial: Implementation of Pharmacogenomic Testing in Oncology Care

NCT04541381
View directory record Official record
Conditions
Gastrointestinal Cancer, Head and Neck Cancer, Dihydropyrimidine Dehydrogenase Deficiency, UGT1A1 Gene Mutation, Breast Cancer
Interventions
Availability of clinical decision support based on pharmacogenomic results.
Other
Lead sponsor
University of Chicago
Other
Eligibility
18 Years and older
Enrollment
860 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2028
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated May 7, 2026 · Synced Oct 25, 2026, 6:20 AM EDT
Completed Phase 1Phase 2 Interventional Results available

Dose-Ranging Study of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects With Fabry Disease (STAAR)

NCT04046224
View directory record Official record
Conditions
Fabry Disease
Interventions
ST-920
Biological
Lead sponsor
Sangamo Therapeutics
Industry
Eligibility
18 Years and older
Enrollment
36 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2025
U.S. locations
9
States / cities
Irvine, California • Tampa, Florida • Atlanta, Georgia + 6 more
Source: ClinicalTrials.gov public record
Updated Apr 14, 2026 · Synced Oct 25, 2026, 6:20 AM EDT
Completed Phase 1 Interventional

A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy

NCT02595489
View directory record Official record
Conditions
X-linked Adrenoleukodystrophy
Interventions
vitamin D3
Dietary Supplement
Lead sponsor
Stanford University
Other
Eligibility
18 Months to 25 Years · Male only
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2020
U.S. locations
1
States / cities
Palo Alto, California
Source: ClinicalTrials.gov public record
Updated Jun 9, 2022 · Synced Oct 25, 2026, 6:20 AM EDT
Completed Phase 2 Interventional Results available

Study of the Safety, Pharmacodynamics (PD) and Efficacy of KRN23 in Children From 1 to 4 Years Old With X-linked Hypophosphatemia (XLH)

NCT02750618
View directory record Official record
Conditions
X-Linked Hypophosphatemia
Interventions
Burosumab
Biological
Lead sponsor
Kyowa Kirin, Inc.
Industry
Eligibility
1 Year to 4 Years
Enrollment
13 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2019
U.S. locations
3
States / cities
New Haven, Connecticut • Indianapolis, Indiana • St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated May 6, 2024 · Synced Oct 25, 2026, 6:20 AM EDT
Completed Phase 3 Interventional Results available

Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKU

NCT00838435
View directory record Official record
Conditions
Phenylketonuria
Interventions
sapropterin dihydrochloride
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
Up to 6 Years
Enrollment
95 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2018
U.S. locations
12
States / cities
La Jolla, California • Orange, California • Tampa, Florida + 9 more
Source: ClinicalTrials.gov public record
Updated Dec 22, 2020 · Synced Oct 25, 2026, 6:20 AM EDT
Completed Phase 1 Interventional

A Study of Foscarnet Plus Ganciclovir in the Treatment of Cytomegalovirus of the Eye in Patients With AIDS Who Have Already Been Treated With Ganciclovir

NCT00000970
View directory record Official record
Conditions
Cytomegalovirus Retinitis, HIV Infections
Interventions
Foscarnet sodium, Ganciclovir
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
13 Years and older
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Ends 1993
U.S. locations
6
States / cities
Los Angeles, California • San Francisco, California • St Louis, Missouri + 3 more
Source: ClinicalTrials.gov public record
Updated Nov 4, 2021 · Synced Oct 25, 2026, 6:20 AM EDT
Recruiting Phase 1 Interventional

Phase 1b Study of VERVE-201 in Patients With Refractory Hyperlipidemia

NCT06451770
View directory record Official record
Conditions
Hypercholesterolemia, Hypertriglyceridemia, Refractory Hyperlipidemia
Interventions
VERVE-201
Drug
Lead sponsor
Verve Therapeutics, Inc.
Industry
Eligibility
18 Years to 70 Years
Enrollment
132 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2027
U.S. locations
5
States / cities
Garden Grove, California • Clearwater, Florida • Miami Lakes, Florida + 2 more
Source: ClinicalTrials.gov public record
Updated Oct 23, 2026 · Synced Oct 25, 2026, 6:20 AM EDT
Completed Phase 1 Interventional

PEG-Glucocerebrosidase for the Treatment of Gaucher Disease

NCT00001410
View directory record Official record
Conditions
Gaucher's Disease
Interventions
Lysodase
Drug
Lead sponsor
National Institute of Mental Health (NIMH)
NIH
Eligibility
Not listed
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1993 – 2001
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 4, 2008 · Synced Oct 25, 2026, 6:20 AM EDT
Completed No phase listed Observational

Study of Glycogen Storage Disease and Associated Disorders

NCT00001342
View directory record Official record
Conditions
Glycogen Storage Disease
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Not listed
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1992 – 2001
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 4, 2008 · Synced Oct 25, 2026, 6:20 AM EDT
Completed Phase 4 Interventional Accepts healthy volunteers Results available

Study of Febuxostat Effect on Blood Pressure in Patients With High Normal Blood Pressure

NCT01472692
View directory record Official record
Conditions
Prehypertension, Gout, Pulse Wave Velocity, Hypertension, 24 Hour Blood Pressure
Interventions
Febuxostat
Drug
Lead sponsor
University of California, San Diego
Other
Eligibility
18 Years to 50 Years
Enrollment
47 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2014
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Dec 16, 2019 · Synced Oct 25, 2026, 6:20 AM EDT