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ClinicalTrials.gov public records Last synced Oct 21, 2026, 4:04 PM EDT

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Showing 289–312 of 1,510 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Inborn Errors of Metabolism Disorders Clear all
Completed Not applicable Interventional Accepts healthy volunteers

Effectiveness of a Butyrate Formulation and Butyrate + Polyphenol Formulation on Gut Health, Permeability and Associated Symptoms

NCT06419231
View directory record Official record
Conditions
Gut Health
Interventions
Butyrate Formulation, Butyrate + Polyphenol Formulation, Placebo
Dietary Supplement
Lead sponsor
Supplement Formulators, Inc.
Industry
Eligibility
21 Years to 70 Years
Enrollment
143 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2025
U.S. locations
1
States / cities
Fort Lauderdale, Florida
Source: ClinicalTrials.gov public record
Updated Jan 13, 2026 · Synced Oct 21, 2026, 4:04 PM EDT
Completed Phase 1 Interventional

A Phase I/II Open-Labelled Trial of Intravitreal Ganciclovir Salvage Therapy for AIDS Patients With Active CMV Retinitis Who Are Intolerant of Systemic Therapy

NCT00000673
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
13 Years to 65 Years
Enrollment
38 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Ends 1993
U.S. locations
2
States / cities
Miami, Florida • St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Oct 27, 2021 · Synced Oct 21, 2026, 4:04 PM EDT
Withdrawn Not applicable Interventional Accepts healthy volunteers

Effects of Potassium Citrate in Urine of Children With Elevated Calcium in Urine and Kidney Stones

NCT00120731
View directory record Official record
Conditions
Kidney Calculi
Interventions
Potassium Citrate, Acetazolamide, Diet low in oxalate and purines
Drug · Behavioral
Lead sponsor
Children's Mercy Hospital Kansas City
Other
Eligibility
5 Years to 17 Years
Healthy volunteers
Accepts healthy volunteers
Timeline
2005 – 2007
U.S. locations
1
States / cities
Kansas City, Missouri
Source: ClinicalTrials.gov public record
Updated Nov 5, 2020 · Synced Oct 21, 2026, 4:04 PM EDT
Completed No phase listed Observational

Mitochondria Inborn Errors of Metabolism and ANT Defects in Mitochondria Diseases

NCT00786539
View directory record Official record
Conditions
Mitochondrial Disease
Interventions
Diffuse Optical Spectroscopy
Device
Lead sponsor
University of California, Irvine
Other
Eligibility
1 Day and older
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2015
U.S. locations
1
States / cities
Irvine, California
Source: ClinicalTrials.gov public record
Updated Oct 20, 2022 · Synced Oct 21, 2026, 4:04 PM EDT
Completed Phase 1Phase 2 Interventional

Valganciclovir in Congenital CMV Infants

NCT00031434
View directory record Official record
Conditions
Cytomegalovirus Infections
Interventions
Valganciclovir, Ganciclovir
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
Up to 30 Days
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2002 – 2007
U.S. locations
21
States / cities
Birmingham, Alabama • Little Rock, Arkansas • Los Angeles, California + 18 more
Source: ClinicalTrials.gov public record
Updated Feb 7, 2011 · Synced Oct 21, 2026, 4:04 PM EDT
Completed Phase 2 Interventional Results available

A Study of Fabrazyme in Pediatric Patients With Fabry Disease

NCT00074958
View directory record Official record
Conditions
Fabry Disease
Interventions
Fabrazyme (agalsidase beta)
Biological
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
7 Years to 15 Years
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2002 – 2005
U.S. locations
1
States / cities
Tucson, Arizona
Source: ClinicalTrials.gov public record
Updated Apr 2, 2015 · Synced Oct 21, 2026, 4:04 PM EDT
Recruiting No phase listed Observational

Artificial Intelligence Guided Echocardiographic Screening of Rare Diseases (EchoNet-Screening)

NCT05139797
View directory record Official record
Conditions
Cardiac Amyloidosis
Interventions
EchoNet-LVH screening for cardiac amyloidosis
Other
Lead sponsor
Cedars-Sinai Medical Center
Other
Eligibility
18 Years and older
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2027
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Jul 22, 2026 · Synced Oct 21, 2026, 4:04 PM 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 21, 2026, 4:04 PM EDT
Completed Phase 3 Interventional Results available

Efficacy and Safety Study of ISIS 301012 (Mipomersen) as Add-on in Familial Hypercholesterolemic Patients With Coronary Artery Disease

NCT00706849
View directory record Official record
Conditions
Heterozygous Familial Hypercholesterolemia, Coronary Artery Disease
Interventions
mipomersen sodium, placebo
Drug
Lead sponsor
Kastle Therapeutics, LLC
Industry
Eligibility
18 Years and older
Enrollment
124 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2010
U.S. locations
37
States / cities
La Jolla, California • Los Angeles, California • Mission Viejo, California + 31 more
Source: ClinicalTrials.gov public record
Updated Sep 9, 2016 · Synced Oct 21, 2026, 4:04 PM EDT
Terminated Phase 3 Interventional

A Phase III Trial of Lorenzo's Oil in Adrenomyeloneuropathy

NCT00545597
View directory record Official record
Conditions
Adrenomyeloneuropathy, Adrenoleukodystrophy
Interventions
Lorenzo's oil
Drug
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
18 Years and older
Enrollment
240 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2007
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 2, 2012 · Synced Oct 21, 2026, 4:04 PM EDT
Recruiting Phase 1Phase 2 Interventional

Pegtibatinase as a Treatment for Patients With Classical Homocystinuria (HCU) (Also Known as the COMPOSE Study)

NCT03406611
View directory record Official record
Conditions
Homocystinuria
Interventions
Pegtibatinase, Placebo
Drug
Lead sponsor
Travere Therapeutics, Inc.
Industry
Eligibility
5 Years to 65 Years
Enrollment
39 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2027
U.S. locations
10
States / cities
Aurora, Colorado • Miami, Florida • Chicago, Illinois + 6 more
Source: ClinicalTrials.gov public record
Updated Aug 10, 2026 · Synced Oct 21, 2026, 4:04 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Purine Metabolism Enzyme SNP to Uric Acid Production

NCT01830725
View directory record Official record
Conditions
Gout, Hyperuricemia
Interventions
Not listed
Lead sponsor
Keesler Air Force Base Medical Center
Federal
Eligibility
18 Years and older
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2016
U.S. locations
1
States / cities
Keesler Air Force Base, Mississippi
Source: ClinicalTrials.gov public record
Updated Aug 30, 2016 · Synced Oct 21, 2026, 4:04 PM EDT
Completed Phase 3 Interventional Results available

Celebrex In Acute Gouty Arthritis Study

NCT00549549
View directory record Official record
Conditions
Arthritis, Gouty
Interventions
Indomethacin, Celecoxib
Drug
Lead sponsor
Pfizer's Upjohn has merged with Mylan to form Viatris Inc.
Industry
Eligibility
18 Years and older
Enrollment
402 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2009
U.S. locations
43
States / cities
Glendale, Arizona • Mesa, Arizona • Paradise Valley, Arizona + 37 more
Source: ClinicalTrials.gov public record
Updated Feb 21, 2021 · Synced Oct 21, 2026, 4:04 PM EDT
Completed Not applicable Interventional

Study of NTBC for Tyrosinemia I

NCT00004443
View directory record Official record
Conditions
Tyrosinemia I
Interventions
NTBC
Drug
Lead sponsor
University of Washington
Other
Eligibility
Up to 17 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2006
U.S. locations
2
States / cities
Portland, Oregon • Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Mar 25, 2015 · Synced Oct 21, 2026, 4:04 PM EDT
Completed Phase 3 Interventional Results available

Safety and Efficacy of Self Administered Injections of Pegvaliase (>40mg/Day Dose) in Adults With PKU

NCT03694353
View directory record Official record
Conditions
Phenylketonuria (PKU)
Interventions
Pegvaliase
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
18 Years to 70 Years
Enrollment
37 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2021
U.S. locations
17
States / cities
Gainesville, Florida • Tampa, Florida • Chicago, Illinois + 14 more
Source: ClinicalTrials.gov public record
Updated Feb 17, 2022 · Synced Oct 21, 2026, 4:04 PM EDT
No Longer Available No phase listed Expanded access

Canavan-Single Patient IND

NCT05317780
View directory record Official record
Conditions
Canavan Disease
Interventions
rAAV9-CB6-AspA
Drug
Lead sponsor
University of Florida
Other
Eligibility
18 Months to 24 Months · Male only
U.S. locations
1
States / cities
Gainesville, Florida
Source: ClinicalTrials.gov public record
Updated Aug 23, 2023 · Synced Oct 21, 2026, 4:04 PM EDT
Completed Not applicable Interventional

Artificial Intelligence Enhanced ECG to Detect Cardiac Amyloidosis

NCT05557162
View directory record Official record
Conditions
Cardiac Amyloidosis
Interventions
AI ECG Amyloid algorithm
Other
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years and older
Enrollment
20,143 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
4
States / cities
Scottsdale, Arizona • Jacksonville, Florida • Rochester, Minnesota + 1 more
Source: ClinicalTrials.gov public record
Updated Feb 17, 2026 · Synced Oct 21, 2026, 4:04 PM EDT
Completed Not applicable Interventional

Effect of Warfarin in the Treatment of Metachromatic Leukodystrophy

NCT00683189
View directory record Official record
Conditions
Metachromatic Leukodystrophy
Interventions
Warfarin
Drug
Lead sponsor
The Cooper Health System
Other
Eligibility
1 Year to 10 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2008
U.S. locations
1
States / cities
Camden, New Jersey
Source: ClinicalTrials.gov public record
Updated Mar 21, 2011 · Synced Oct 21, 2026, 4:04 PM EDT
Active, not recruiting Phase 3 Interventional

An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC Deficiency

NCT06255782
View directory record Official record
Conditions
Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease, Ornithine Carbamoyltransferase Deficiency (Disorder), Urea Cycle Disorders, Inborn
Interventions
ECUR-506
Genetic
Lead sponsor
iECURE, Inc.
Industry
Eligibility
24 Hours to 7 Months · Male only
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2027
U.S. locations
6
States / cities
Los Angeles, California • Aurora, Colorado • Atlanta, Georgia + 3 more
Source: ClinicalTrials.gov public record
Updated Sep 30, 2026 · Synced Oct 21, 2026, 4:04 PM EDT
Completed Phase 1Phase 2 Interventional Results available

Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome

NCT00272844
View directory record Official record
Conditions
Smith-Lemli-Opitz Syndrome
Interventions
crystalline cholesterol oil-based suspension
Drug
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Not listed
Enrollment
23 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2011
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Oct 20, 2017 · Synced Oct 21, 2026, 4:04 PM EDT
Not listed Not applicable Interventional

Investigation of Supplemental L-alanine in the Management of Dietary Fructose Intolerance

NCT04022434
View directory record Official record
Conditions
Fructose Intolerance
Interventions
Placedo, Alanine
Dietary Supplement
Lead sponsor
Augusta University
Other
Eligibility
18 Years and older
Enrollment
65 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2020
U.S. locations
1
States / cities
Augusta, Georgia
Source: ClinicalTrials.gov public record
Updated Apr 15, 2020 · Synced Oct 21, 2026, 4:04 PM EDT
Completed No phase listed Observational

Dietary Monosaccharide Supplementation in Patients With Congenital Disorders of Glycosylation

NCT04198987
View directory record Official record
Conditions
Congenital Disorder of Glycosylation
Interventions
Not listed
Lead sponsor
Mayo Clinic
Other
Eligibility
Not listed
Enrollment
20 participants
Timeline
2018 – 2025
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Oct 1, 2025 · Synced Oct 21, 2026, 4:04 PM EDT
Not listed No phase listed Observational

Amyloidosis Incidence in High-Risk Cardiac Device Patients

NCT06186167
View directory record Official record
Conditions
Amyloid, Cardiac Amyloidosis, Amyloidosis Cardiac, Systemic Amyloidosis, AL Amyloidosis, Infiltrative Cardiomyopathy, Amyloid, ATTR Amyloidosis Wild Type
Interventions
Chest Wall Fat Tissue Collection
Procedure
Lead sponsor
Midwest Heart & Vascular Specialists
Other
Eligibility
40 Years and older
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024
U.S. locations
1
States / cities
Overland Park, Kansas
Source: ClinicalTrials.gov public record
Updated Feb 20, 2024 · Synced Oct 21, 2026, 4:04 PM EDT