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ClinicalTrials.gov public records Last synced Oct 15, 2026, 4:56 PM EDT

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

Showing 697–720 of 1,608 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Metabolism, Inborn Errors Clear all
Completed No phase listed Observational

Vitamin Replacement in Abetalipoproteinemia

NCT00004574
View directory record Official record
Conditions
Abetalipoproteinemia
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
Not listed
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2001
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 4, 2008 · Synced Oct 15, 2026, 4:56 PM EDT
Recruiting No phase listed Observational

Prospective Clinical Assessment Study in Children With Hypochondroplasia

NCT06410976
View directory record Official record
Conditions
Hypochondroplasia
Interventions
Not listed
Lead sponsor
QED Therapeutics, a BridgeBio company
Industry
Eligibility
30 Months to 16 Years
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
8
States / cities
Oakland, California • Aurora, Colorado • Washington D.C., District of Columbia + 5 more
Source: ClinicalTrials.gov public record
Updated Jul 16, 2026 · Synced Oct 15, 2026, 4:56 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 9, 2022 · Synced Oct 15, 2026, 4:56 PM EDT
Not listed No phase listed Observational

Exercise Effect on Transthyretin Stability

NCT04986826
View directory record Official record
Conditions
Amyloidosis Transthyretin, Athlete Heart
Interventions
Not listed
Lead sponsor
Oregon Health and Science University
Other
Eligibility
18 Years and older
Enrollment
24 participants
Timeline
2021
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Aug 3, 2021 · Synced Oct 15, 2026, 4:56 PM EDT
Completed Phase 2Phase 3 Interventional

A Clinical Study to Evaluate the Efficacy and Safety of MIN-102 (IMP) in Male AMN Patients.

NCT03231878
View directory record Official record
Conditions
Adrenoleukodystrophy
Interventions
MIN-102, Placebos
Drug
Lead sponsor
Minoryx Therapeutics, S.L.
Industry
Eligibility
18 Years to 65 Years · Male only
Enrollment
105 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2025
U.S. locations
3
States / cities
Stanford, California • Baltimore, Maryland • Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Mar 18, 2025 · Synced Oct 15, 2026, 4:56 PM EDT
Completed No phase listed Observational

Study of Thiotepa and TEPA Drug Exposure in Pediatric Hematopoietic Stem Cell Transplant Patients

NCT03609840
View directory record Official record
Conditions
Hematologic Malignancies, Nonmalignant Diseases, Immune Deficiency, Hemoglobinopathies, Genetic Inborn Errors of Metabolism, Fanconi Anemia, Thalassemia, Sickle Cell Disease
Interventions
Thiotepa
Drug
Lead sponsor
University of California, San Francisco
Other
Eligibility
Up to 17 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2023
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Sep 21, 2023 · Synced Oct 15, 2026, 4:56 PM EDT
Completed Phase 3 Interventional Results available

Open-Label Extension Study for Patients Who Completed a Phase 3 Double-blind Study of PEG-uricase for Symptomatic Gout

NCT01356498
View directory record Official record
Conditions
Gout
Interventions
pegloticase
Biological
Lead sponsor
Savient Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
151 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2010
U.S. locations
22
States / cities
San Francisco, California • Santa Maria, California • Whittier, California + 19 more
Source: ClinicalTrials.gov public record
Updated Dec 2, 2011 · Synced Oct 15, 2026, 4:56 PM EDT
Completed Phase 3 Interventional

A Treatment Protocol for the Use of Intravenous Ganciclovir in AIDS Patients With Immediately Sight-Threatening CMV Retinitis

NCT00000698
View directory record Official record
Conditions
Cytomegalovirus Retinitis, HIV Infections
Interventions
Ganciclovir
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
3 Months and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
Ends 2007
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 30, 2008 · Synced Oct 15, 2026, 4:56 PM EDT
Recruiting Phase 3 Interventional

Pegtibatinase as a Treatment for Participants With Classical Homocystinuria (HCU) Receiving Standard of Care Treatment

NCT06247085
View directory record Official record
Conditions
Homocystinuria
Interventions
Pegtibatinase, Placebo
Drug · Other
Lead sponsor
Travere Therapeutics, Inc.
Industry
Eligibility
12 Years to 65 Years
Enrollment
70 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
13
States / cities
Phoenix, Arizona • New Haven, Connecticut • Atlanta, Georgia + 10 more
Source: ClinicalTrials.gov public record
Updated Oct 8, 2026 · Synced Oct 15, 2026, 4:56 PM EDT
Active, not recruiting Not applicable Interventional

Randall's Plaque Study: Pathogenesis and Relationship to Nephrolithiasis

NCT00169806
View directory record Official record
Conditions
Nephrocalcinosis, Renal Calculi, Hypercalciuria, Hyperparathyroidism, Cystinuria
Interventions
videotape for mapping of renal anatomy and papillary biopsy
Other
Lead sponsor
Indiana Kidney Stone Institute
Other
Eligibility
18 Years and older
Enrollment
600 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2025
U.S. locations
1
States / cities
Indianapolis, Indiana
Source: ClinicalTrials.gov public record
Updated Jan 23, 2025 · Synced Oct 15, 2026, 4:56 PM EDT
Recruiting No phase listed Observational

Investigations of Juvenile Neuronal Ceroid Lipofuscinosis

NCT03307304
View directory record Official record
Conditions
Juvenile Neuronal Ceroid Lipofuscinosis (CLN3), Batten Disease
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
1 Week to 100 Years
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2050
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 5, 2026 · Synced Oct 15, 2026, 4:56 PM EDT
Not listed Phase 2 Interventional

Study of Levotofisopam 50 mg Three Times a Day (TID) Administered for 7 Days on Hyperuricemia and Gout

NCT01519687
View directory record Official record
Conditions
Hyperuricemia, Gout
Interventions
levotofisopam
Drug
Lead sponsor
Pharmos
Industry
Eligibility
18 Years to 65 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jan 27, 2012 · Synced Oct 15, 2026, 4:56 PM EDT
Completed Phase 1 Interventional

Gene Therapy for the Treatment of Brain Tumors

NCT00001328
View directory record Official record
Conditions
Brain Neoplasm, Neoplasm Metastasis
Interventions
Cytovene (Ganciclovir Sodium), G1TKSVNa.53 Producer Cell Line
Drug · Device
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
19 Years and older
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1992 – 2010
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 2, 2017 · Synced Oct 15, 2026, 4:56 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Comparative Efficacy of Phenylbutyrate (PBA) vs. Benzoate in Urea Cycle Disorders

NCT02111200
View directory record Official record
Conditions
Urea Cycle Disorders, Inborn
Interventions
Sodium Benzoate, Sodium Phenylbutyrate
Drug
Lead sponsor
Baylor College of Medicine
Other
Eligibility
18 Years to 64 Years
Enrollment
7 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2015
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jan 9, 2018 · Synced Oct 15, 2026, 4:56 PM EDT
Terminated Phase 4 Interventional Results available

Study of the Effects of Fabrazyme Treatment on Lactation and Infants

NCT00230607
View directory record Official record
Conditions
Fabry Disease, Alpha Galactosidase A Deficiency
Interventions
agalsidase beta
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
Not listed
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2024
U.S. locations
3
States / cities
Decatur, Georgia • Fairfax, Virginia • Milwaukee, Wisconsin
Source: ClinicalTrials.gov public record
Updated Apr 10, 2024 · Synced Oct 15, 2026, 4:56 PM EDT
Completed Phase 3 Interventional Results available

Study of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet

NCT00272792
View directory record Official record
Conditions
Phenylketonurias
Interventions
Sapropterin Dihydrochloride, Placebo
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
4 Years to 12 Years
Enrollment
45 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006
U.S. locations
9
States / cities
Los Angeles, California • Oakland, California • Sacramento, California + 6 more
Source: ClinicalTrials.gov public record
Updated Aug 13, 2015 · Synced Oct 15, 2026, 4:56 PM EDT
Completed Not applicable Interventional

A Randomized, Controlled Study of the Safety and Preventive Efficacy of Oral Ganciclovir When Used in Conjunction With An Intravitreal Ganciclovir Implant in the Treatment of Cytomegalovirus Retinitis

NCT00002134
View directory record Official record
Conditions
Cytomegalovirus Retinitis, HIV Infections
Interventions
Ganciclovir
Drug
Lead sponsor
Roche Global Development
Other
Eligibility
13 Years and older
Enrollment
450 participants
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
23
States / cities
Beverly Hills, California • Irvine, California • Los Angeles, California + 16 more
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 15, 2026, 4:56 PM EDT
Active, not recruiting Phase 3 Interventional

A Study to Evaluate Migalastat in Fabry Subjects With Amenable GLA Variant and Renal Disease

NCT04020055
View directory record Official record
Conditions
Fabry Disease
Interventions
migalastat HCl 150 mg
Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
18 Years and older
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2026
U.S. locations
3
States / cities
Atlanta, Georgia • Cleveland, Ohio • Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Jul 6, 2026 · Synced Oct 15, 2026, 4:56 PM EDT
Completed No phase listed Observational Results available

The Assessment of Copper Parameters in Wilson Disease Participants on Standard of Care Treatment

NCT02763215
View directory record Official record
Conditions
Wilson Disease
Interventions
Standard of Care Medications
Drug
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
18 Years and older
Enrollment
64 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2019
U.S. locations
5
States / cities
New Haven, Connecticut • Chicago, Illinois • Ann Arbor, Michigan + 2 more
Source: ClinicalTrials.gov public record
Updated Dec 1, 2020 · Synced Oct 15, 2026, 4:56 PM EDT
Recruiting No phase listed Observational

Krabbe Disease Global Patient Registry

NCT02993796
View directory record Official record
Conditions
Krabbe Disease
Interventions
Not listed
Lead sponsor
State University of New York at Buffalo
Other
Eligibility
Not listed
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2026
U.S. locations
1
States / cities
Buffalo, New York
Source: ClinicalTrials.gov public record
Updated Jul 17, 2026 · Synced Oct 15, 2026, 4:56 PM EDT
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 15, 2026, 4:56 PM EDT
Completed No phase listed Observational

Effects of Low-density Lipoprotein (LDL) Apheresis on Inflammatory and Lipid Markers

NCT01138371
View directory record Official record
Conditions
Familial Hypercholesterolemia
Interventions
LDL Apheresis
Procedure
Lead sponsor
Emory University
Other
Eligibility
3 Years to 70 Years
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2012
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated Dec 17, 2013 · Synced Oct 15, 2026, 4:56 PM EDT
Terminated Early Phase 1 Interventional

Molecular Imaging of the Underlying Mechanism of Cardiotoxicity in Patients With Light Chain Amyloidosis Using PET/CT

NCT04105634
View directory record Official record
Conditions
Cardiac Amyloidosis
Interventions
FNOS, Florbetaben
Drug
Lead sponsor
University of Pennsylvania
Other
Eligibility
18 Years and older
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2024
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Nov 12, 2024 · Synced Oct 15, 2026, 4:56 PM EDT
Active, not recruiting Phase 2 Interventional

Theophylline Treatment for Pseudohypoparathyroidism

NCT03029429
View directory record Official record
Conditions
Pseudohypoparathyroidism, Albright Hereditary Osteodystrophy
Interventions
Theophylline, Placebos
Drug
Lead sponsor
Vanderbilt University Medical Center
Other
Eligibility
13 Years to 99 Years
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2026
U.S. locations
1
States / cities
Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Sep 2, 2026 · Synced Oct 15, 2026, 4:56 PM EDT