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ClinicalTrials.gov public records Last synced Oct 16, 2026, 1:03 AM EDT

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Showing 745–768 of 1,608 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Metabolism, Inborn Errors Clear all
Completed Not applicable Interventional Accepts healthy volunteers

A Study to Evaluate the Effects of a Butyrate-Polyphenol Formulation on Gut Health and Associated Symptoms

NCT07371975
View directory record Official record
Conditions
Gut Health
Interventions
Butyrate + Polyphenol Formulation, Placebo
Dietary Supplement
Lead sponsor
Supplement Formulators, Inc.
Industry
Eligibility
25 Years to 70 Years
Enrollment
124 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2026
U.S. locations
1
States / cities
Fort Lauderdale, Florida
Source: ClinicalTrials.gov public record
Updated Aug 26, 2026 · Synced Oct 16, 2026, 1:03 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 16, 2026, 1:03 AM EDT
Enrolling by invitation Phase 2 Interventional

Sirolimus for Leigh Syndrome

NCT06843811
View directory record Official record
Conditions
Leigh Syndrome
Interventions
Sirolimus
Drug
Lead sponsor
Matthew Demczko
Other
Eligibility
6 Months to 55 Years
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Mar 31, 2026 · Synced Oct 16, 2026, 1:03 AM EDT
Completed Phase 2 Interventional Results available

Drug-Drug Interaction Study Between AT1001 (Migalastat Hydrochloride) and Agalsidase in Participants With Fabry Disease

NCT01196871
View directory record Official record
Conditions
Fabry Disease
Interventions
Migalastat HCl, Agalsidase Beta, Agalsidase Alfa
Drug · Biological
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
18 Years to 65 Years · Male only
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2012
U.S. locations
5
States / cities
Birmingham, Alabama • Decatur, Georgia • Iowa City, Iowa + 2 more
Source: ClinicalTrials.gov public record
Updated Dec 19, 2018 · Synced Oct 16, 2026, 1:03 AM EDT
Completed Phase 1Phase 2 Interventional Accepts healthy volunteers Results available

Safety and Pharmacokinetics of AT-007 in Healthy Subjects and in Adult Subjects With Classic Galactosemia

NCT04117711
View directory record Official record
Conditions
Classic Galactosemia
Interventions
AT-007, Placebo
Drug
Lead sponsor
Applied Therapeutics, Inc.
Industry
Eligibility
18 Years to 55 Years
Enrollment
114 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2021
U.S. locations
4
States / cities
Anaheim, California • Atlanta, Georgia • Boston, Massachusetts + 1 more
Source: ClinicalTrials.gov public record
Updated May 30, 2024 · Synced Oct 16, 2026, 1:03 AM EDT
Completed Phase 3 Interventional Results available

A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease to Evaluate Once Daily Versus Twice Daily Dosing (EDGE)

NCT01074944
View directory record Official record
Conditions
Gaucher Disease
Interventions
Eliglustat tartrate
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
18 Years and older
Enrollment
170 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2015
U.S. locations
10
States / cities
San Diego, California • New Haven, Connecticut • Decatur, Georgia + 6 more
Source: ClinicalTrials.gov public record
Updated Feb 6, 2017 · Synced Oct 16, 2026, 1:03 AM EDT
Completed Not applicable Interventional Results available

Low Cost OCT for Point of Care

NCT03323307
View directory record Official record
Conditions
Optical Coherence Tomography (OCT) of the Retina
Interventions
OCT imaging
Device
Lead sponsor
Duke University
Other
Eligibility
18 Years and older
Enrollment
70 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Dec 5, 2019 · Synced Oct 16, 2026, 1:03 AM EDT
Withdrawn No phase listed Observational

A Study of the Natural Course of SURF1 Deficiency

NCT05277363
View directory record Official record
Conditions
Leigh Syndrome
Interventions
None (Observational study)
Other
Lead sponsor
Taysha Gene Therapies, Inc.
Industry
Eligibility
Up to 18 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated May 20, 2022 · Synced Oct 16, 2026, 1:03 AM EDT
Terminated Phase 2 Interventional Results available

A Study Of Safety, Tolerability And Effectiveness Of Recifercept In Children With Achondroplasia

NCT04638153
View directory record Official record
Conditions
Achondroplasia
Interventions
Recifercept
Biological
Lead sponsor
Pfizer
Industry
Eligibility
3 Months to 10 Years
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2023
U.S. locations
6
States / cities
Aliso Viejo, California • Irvine, California • Long Beach, California + 3 more
Source: ClinicalTrials.gov public record
Updated Feb 15, 2024 · Synced Oct 16, 2026, 1:03 AM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

Study to Investigate the Effects of Food on Relative Bioavailability of ABP-671 Tablets in Healthy Subjects

NCT04303039
View directory record Official record
Conditions
Gout, Food-drug Interaction
Interventions
ABP-671
Drug
Lead sponsor
Atom Therapeutics Co., Ltd
Industry
Eligibility
18 Years to 60 Years
Enrollment
12 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Jun 23, 2020 · Synced Oct 16, 2026, 1:03 AM EDT
Terminated Phase 1Phase 2 Interventional

Liver Cell Transplant for Phenylketonuria

NCT01465100
View directory record Official record
Conditions
Phenylketonuria
Interventions
Preparative Radiation Therapy, Hepatocyte Transplant, Immunosuppression, Liver Evaluation, Neuro-psychological Assessment, Whole body Phe oxidation testing, Liver Biopsy
Radiation · Procedure · Drug + 3 more
Lead sponsor
Ira Fox
Other
Eligibility
14 Years to 55 Years
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2016
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Aug 16, 2023 · Synced Oct 16, 2026, 1:03 AM EDT
Not listed Not applicable Interventional

HDL Acute Lipid Optimization in Homozygous Familial Hypercholesterolemia

NCT03135184
View directory record Official record
Conditions
Homozygous Familial Hypercholesterolemia, HoFH
Interventions
HDL Therapeutics PDS-2 System
Device
Lead sponsor
HDL Therapeutics
Industry
Eligibility
12 Years and older
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2019
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated May 23, 2019 · Synced Oct 16, 2026, 1:03 AM EDT
Completed Phase 4 Interventional

Comparison of Two Drugs, Cidofovir and Ganciclovir, in Treating Patients With AIDS Who Have CMV Retinitis

NCT00000894
View directory record Official record
Conditions
Cytomegalovirus Retinitis, HIV Infections
Interventions
Cidofovir, Probenecid, Ganciclovir
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
13 Years and older
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
12
States / cities
Los Angeles, California • Miami, Florida • Atlanta, Georgia + 7 more
Source: ClinicalTrials.gov public record
Updated Feb 23, 2011 · Synced Oct 16, 2026, 1:03 AM EDT
Enrolling by invitation Phase 2 Interventional

124I-Evuzamitide PET/CT Imaging In Patients With Lumbar Spinal Stenosis and Carpal Tunnel Syndrome

NCT06907849
View directory record Official record
Conditions
Lumbar Spinal Stenosis, Carpal Tunnel Syndrome (CTS), Cardiac Amyloidosis
Interventions
124I-evuzamitide
Drug
Lead sponsor
University of Tennessee Graduate School of Medicine
Other
Eligibility
60 Years and older
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
1
States / cities
Knoxville, Tennessee
Source: ClinicalTrials.gov public record
Updated Jul 21, 2026 · Synced Oct 16, 2026, 1:03 AM EDT
Completed Phase 1 Interventional

Safety and Dose Ranging Study of Insulin Receptor MAb-IDUA Fusion Protein in Patients With MPS I

NCT02371226
View directory record Official record
Conditions
Mucopolysaccharidosis I
Interventions
AGT-181 (HIRMAb-IDUA)
Drug
Lead sponsor
ArmaGen, Inc
Industry
Eligibility
18 Years and older
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2017
U.S. locations
6
States / cities
Oakland, California • Orange, California • Decatur, Georgia + 3 more
Source: ClinicalTrials.gov public record
Updated Feb 21, 2023 · Synced Oct 16, 2026, 1:03 AM EDT
Completed Phase 3 Interventional Results available

Open Label Extension Study of 1 mg/kg Pegunigalsidase Alfa Every 2 Weeks in Patients With Fabry Disease

NCT03566017
View directory record Official record
Conditions
Fabry Disease
Interventions
pegunigalsidase alfa
Drug
Lead sponsor
Chiesi Farmaceutici S.p.A.
Industry
Eligibility
18 Years to 60 Years
Enrollment
97 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2025
U.S. locations
15
States / cities
Birmingham, Alabama • Phoenix, Arizona • La Jolla, California + 11 more
Source: ClinicalTrials.gov public record
Updated Mar 24, 2026 · Synced Oct 16, 2026, 1:03 AM EDT
Completed Phase 1Phase 2 Interventional Results available

Nitisinone for Type 1B Oculocutaneous Albinism

NCT01838655
View directory record Official record
Conditions
Albinism, Vision Loss
Interventions
Nitisinone
Drug
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
18 Years and older
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2017
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Feb 26, 2019 · Synced Oct 16, 2026, 1:03 AM EDT
Completed No phase listed Observational

Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls

NCT05642221
View directory record Official record
Conditions
Juvenile Neuronal Ceroid Lipofuscinosis, Smith-Lemli-Opitz Syndrome, Creatine Transporter Deficiency, Niemann-Pick Disease Type C1
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
6 Months to 110 Years
Enrollment
73 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 13, 2026 · Synced Oct 16, 2026, 1:03 AM EDT
Active, not recruiting Phase 1Phase 2 Interventional

Intravitreal ERT to Prevent Retinal Disease Progression in Children With CLN2

NCT05152914
View directory record Official record
Conditions
Neuronal Ceroid Lipofuscinosis Type 2
Interventions
Cerliponase Alfa
Drug
Lead sponsor
David L Rogers, MD
Other
Eligibility
24 Months to 72 Months
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2027
U.S. locations
1
States / cities
Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Apr 30, 2026 · Synced Oct 16, 2026, 1:03 AM EDT
Withdrawn Phase 2 Interventional

Phase II Clinical Trial of Clenbuterol in Adult Patients With Pompe Disease

NCT04094948
View directory record Official record
Conditions
Pompe Disease (Late-onset)
Interventions
Clenbuterol, Placebos
Drug
Lead sponsor
Duke University
Other
Eligibility
18 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Aug 17, 2022 · Synced Oct 16, 2026, 1:03 AM EDT
Not listed Not applicable Interventional Accepts healthy volunteers

Comparing the Inflammation, Maldigestion and Symptoms Due to Commercial Milk and A2 Milk

NCT05660278
View directory record Official record
Conditions
Lactose Intolerance
Interventions
Milk containing A1 and A2 beta-casein, Milk containing only A2 beta-casein
Other
Lead sponsor
Purdue University
Other
Eligibility
18 Years to 65 Years
Enrollment
35 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2025
U.S. locations
1
States / cities
West Lafayette, Indiana
Source: ClinicalTrials.gov public record
Updated Dec 21, 2022 · Synced Oct 16, 2026, 1:03 AM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

A Study Evaluating the Impact of Regular FODMAP-targeting Digestive Enzyme Blend Use on Gastrointestinal Symptoms in Individuals With Self-Reported Bloating

NCT07591584
View directory record Official record
Conditions
IBS (Irritable Bowel Syndrome), Bloating, Abdominal Pain, Gut Health
Interventions
FODMAP-targeting digestive enzyme blend, Placebo
Dietary Supplement · Other
Lead sponsor
Kiwi Health Inc
Industry
Eligibility
18 Years and older
Enrollment
150 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2026
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated May 15, 2026 · Synced Oct 16, 2026, 1:03 AM EDT
Completed Phase 1 Interventional Results available

Safety and Tolerability of the D1 Dopamine Receptor Antagonist Ecopipam in Patients With Lesch-Nyhan Disease

NCT01065558
View directory record Official record
Conditions
Lesch-Nyhan Disease
Interventions
Ecopipam
Drug
Lead sponsor
Psyadon Pharma
Industry
Eligibility
6 Years to 65 Years · Male only
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2011
U.S. locations
2
States / cities
San Diego, California • Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated Apr 18, 2013 · Synced Oct 16, 2026, 1:03 AM EDT
Completed No phase listed Observational

Genetic Analysis of Oculocerebrorenal Syndrome of Lowe

NCT00359515
View directory record Official record
Conditions
Lowe Syndrome
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Male only
Enrollment
120 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2001 – 2009
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 2, 2017 · Synced Oct 16, 2026, 1:03 AM EDT