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ClinicalTrials.gov public records Last synced May 21, 2026, 5:58 PM EDT

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

Showing 1–24 of 1,570 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Genetic Inborn Errors of Metabolism Clear all
Not listed No phase listed Observational
View directory record Official record
Conditions
Mucopolysaccharidosis Type IIIB
Interventions
Not listed
Lead sponsor
Allievex Corporation
Industry
Eligibility
Up to 18 Years
Enrollment
44 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2025
U.S. locations
1
States / cities
Oakland, California
Source: ClinicalTrials.gov public record
Updated Oct 25, 2022 · Synced May 21, 2026, 5:58 PM EDT
Terminated Not applicable Interventional Results available
View directory record Official record
Conditions
Blood Pressure, Gout
Interventions
febuxostat
Drug
Lead sponsor
University of Mississippi Medical Center
Other
Eligibility
18 Years to 80 Years
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2011
U.S. locations
1
States / cities
Jackson, Mississippi
Source: ClinicalTrials.gov public record
Updated Jan 11, 2018 · Synced May 21, 2026, 5:58 PM EDT
Completed Phase 3 Interventional Results available
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 16, 2020 · Synced May 21, 2026, 5:58 PM EDT
Completed Phase 4 Interventional Results available
View directory record Official record
Conditions
Cytomegalovirus Infection
Interventions
Valganciclovir
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
18 Years to 99 Years
Enrollment
205 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2018
U.S. locations
6
States / cities
Los Angeles, California • Atlanta, Georgia • Rochester, Minnesota + 3 more
Source: ClinicalTrials.gov public record
Updated Aug 25, 2021 · Synced May 21, 2026, 5:58 PM EDT
Terminated Phase 3 Interventional Results available
View directory record Official record
Conditions
Wilson Disease
Interventions
ALXN1840, SoC Therapy
Drug
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
12 Years and older
Enrollment
214 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2023
U.S. locations
6
States / cities
Los Angeles, California • New Haven, Connecticut • Chicago, Illinois + 3 more
Source: ClinicalTrials.gov public record
Updated Jun 16, 2024 · Synced May 21, 2026, 5:58 PM EDT
Completed No phase listed Observational
View directory record Official record
Conditions
MPS IVA, Morquio Syndrome
Interventions
Not listed
Lead sponsor
Oregon Health and Science University
Other
Eligibility
1 Year and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2017
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Oct 16, 2019 · Synced May 21, 2026, 5:58 PM EDT
Active, not recruiting Phase 2 Interventional
View directory record Official record
Conditions
Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS Syndrome)
Interventions
zagociguat 15mg, zagociguat 30mg, Placebo
Drug
Lead sponsor
Tisento Therapeutics
Industry
Eligibility
18 Years to 75 Years
Enrollment
43 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
10
States / cities
La Jolla, California • Aurora, Colorado • Atlanta, Georgia + 5 more
Source: ClinicalTrials.gov public record
Updated Mar 24, 2026 · Synced May 21, 2026, 5:58 PM EDT
Completed Phase 3 Interventional Results available
View directory record Official record
Conditions
Mucopolysaccharidosis I, Hurler's Syndrome, Hurler-Scheie Syndrome, Scheie Syndrome
Interventions
Aldurazyme, placebo
Biological
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
Not listed
Enrollment
45 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2001 – 2005
U.S. locations
8
States / cities
Mobile, Alabama • Atlanta, Georgia • Rochester, New York + 5 more
Source: ClinicalTrials.gov public record
Updated Apr 2, 2015 · Synced May 21, 2026, 5:58 PM EDT
Active, not recruiting Phase 2 Interventional
View directory record Official record
Conditions
Pseudohypoparathyroidism, Albright Hereditary Osteodystrophy, Pseudohypoparathyroidism Type 1a
Interventions
Theophylline, Placebo
Drug
Lead sponsor
Vanderbilt University Medical Center
Other
Eligibility
2 Years to 12 Years
Enrollment
34 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2026
U.S. locations
1
States / cities
Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Apr 28, 2026 · Synced May 21, 2026, 5:58 PM EDT
Completed Phase 3 Interventional
View directory record Official record
Conditions
Achondroplasia
Interventions
Infigratinib 0.25 mg/kg/day, Placebo Comparator 0.25 mg/kg/day
Drug
Lead sponsor
QED Therapeutics, a BridgeBio company
Industry
Eligibility
3 Years to 17 Years
Enrollment
114 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
7
States / cities
San Francisco, California • Aurora, Colorado • Baltimore, Maryland + 4 more
Source: ClinicalTrials.gov public record
Updated Mar 16, 2026 · Synced May 21, 2026, 5:58 PM EDT
Active, not recruiting No phase listed Observational
View directory record Official record
Conditions
Hematopoietic Cell Transplantation, Mucopolysaccharidosis Type I
Interventions
Laronidase therapy and a stem cell transplant
Drug
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
0 Years to 3 Years
Enrollment
13 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2026
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Oct 29, 2025 · Synced May 21, 2026, 5:58 PM EDT
Completed Phase 3 Interventional Accepts healthy volunteers Results available
View directory record Official record
Conditions
Gout
Interventions
High Dose Colchicine (4.8 mg total dose), Low Dose Colchicine (1.8mg total dose), Placebo Control
Drug · Other
Lead sponsor
Takeda
Industry
Eligibility
18 Years and older
Enrollment
185 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2007
U.S. locations
83
States / cities
Birmingham, Alabama • Columbiana, Alabama • Huntsville, Alabama + 78 more
Source: ClinicalTrials.gov public record
Updated Oct 31, 2012 · Synced May 21, 2026, 5:58 PM EDT
Completed No phase listed Observational Accepts healthy volunteers
View directory record Official record
Conditions
Alzheimer's Disease, Brain Neoplasm, Niemann Pick Disease
Interventions
15 O Water
Drug
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
Not listed
Enrollment
123 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
1994 – 2002
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 3, 2008 · Synced May 21, 2026, 5:58 PM EDT
Completed No phase listed Observational
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 May 21, 2026, 5:58 PM EDT
Completed Phase 3 Interventional Results available
View directory record Official record
Conditions
Acute Gouty Arthritis
Interventions
Canakinumab pre-filled syringe, Canakinumab lyophilized powder, Triamcinolone Acetonide, Placebo
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years to 85 Years
Enrollment
397 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2012
U.S. locations
69
States / cities
Anniston, Alabama • Gulf Shores, Alabama • Mobile, Alabama + 62 more
Source: ClinicalTrials.gov public record
Updated Jan 28, 2014 · Synced May 21, 2026, 5:58 PM EDT
Completed Phase 2Phase 3 Interventional Results available
View directory record Official record
Conditions
Cerebral Adrenoleukodystrophy (CALD)
Interventions
Lenti-D Drug Product (eli-cel)
Genetic
Lead sponsor
Genetix Biotherapeutics Inc.
Industry
Eligibility
Up to 17 Years · Male only
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2021
U.S. locations
3
States / cities
Los Angeles, California • Boston, Massachusetts • Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Apr 24, 2022 · Synced May 21, 2026, 5:58 PM EDT
Terminated Not applicable Interventional Accepts healthy volunteers Results available
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 May 21, 2026, 5:58 PM EDT
Terminated Phase 3 Interventional Accepts healthy volunteers Results available
View directory record Official record
Conditions
Tay-Sachs Disease, Sandhoff Disease
Interventions
venglustat GZ402671, placebo
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
2 Years and older
Enrollment
75 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2024
U.S. locations
5
States / cities
Los Angeles, California • Atlanta, Georgia • Bethesda, Maryland + 2 more
Source: ClinicalTrials.gov public record
Updated Jan 27, 2026 · Synced May 21, 2026, 5:58 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available
View directory record Official record
Conditions
X-linked Adrenoleukodystrophy
Interventions
exercise training
Behavioral
Lead sponsor
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Other
Eligibility
21 Years to 70 Years · Female only
Enrollment
31 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2014
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 28, 2018 · Synced May 21, 2026, 5:58 PM EDT
Completed No phase listed Observational
View directory record Official record
Conditions
Gaucher Disease
Interventions
Standard of Care
Other
Lead sponsor
Takeda
Industry
Eligibility
Up to 5 Years
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
1
States / cities
Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Mar 28, 2024 · Synced May 21, 2026, 5:58 PM EDT
Completed Phase 2 Interventional Results available
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 17, 2024 · Synced May 21, 2026, 5:58 PM EDT
Completed Phase 4 Interventional Results available
View directory record Official record
Conditions
Gaucher Disease
Interventions
Velaglucerase alfa, Vitamin D
Drug · Dietary Supplement
Lead sponsor
Shire
Industry
Eligibility
18 Years to 70 Years
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2020
U.S. locations
8
States / cities
Beverly Hills, California • Los Angeles, California • Atlanta, Georgia + 5 more
Source: ClinicalTrials.gov public record
Updated Jan 31, 2022 · Synced May 21, 2026, 5:58 PM EDT
Recruiting No phase listed Observational
View directory record Official record
Conditions
Alpha-Thalassemia, Beta-Thalassemia, Amyloidosis, Amyotrophic Lateral Sclerosis, Creutzfeld-Jakob Disease, Cystic Fibrosis, Duchenne Muscular Dystrophy, Early-Onset Alzheimer Disease, Ehlers-Danlos Syndrome, Huntington Disease, Gaucher Disease, GM1 Gangliosidosis, Myasthenia Gravis, Pompe Disease, Sickle Cell Disease, Transthyretin Amyloid Cardiomyopathy, Rare Diseases
Interventions
Not listed
Lead sponsor
xCures
Industry
Eligibility
Not listed
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
1
States / cities
Los Altos, California
Source: ClinicalTrials.gov public record
Updated Nov 13, 2024 · Synced May 21, 2026, 5:58 PM EDT
Completed Phase 2 Interventional Results available
View directory record Official record
Conditions
Argininosuccinic Aciduria, Amino Acid Metabolism, Inborn Errors, Urea Cycle Disorders
Interventions
Sodium Phenylbutyrate, Arginine
Drug
Lead sponsor
Brendan Lee
Other
Eligibility
5 Years and older
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2012
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jan 30, 2018 · Synced May 21, 2026, 5:58 PM EDT