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ClinicalTrials.gov public records Last synced May 22, 2026, 3:51 AM 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 251 matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
Filters: Condition: Amino Acid Metabolism, Inborn Errors Clear all
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 22, 2026, 3:51 AM 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 22, 2026, 3:51 AM 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 22, 2026, 3:51 AM EDT
Completed No phase listed Observational
View directory record Official record
Conditions
Phenylketonuria
Interventions
Not listed
Lead sponsor
Shoji Yano
Other
Eligibility
18 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2010
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Jan 17, 2013 · Synced May 22, 2026, 3:51 AM EDT
Completed Phase 2 Interventional
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
18 Years and older
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
9
States / cities
La Jolla, California • Los Angeles, California • San Francisco, California + 4 more
Source: ClinicalTrials.gov public record
Updated Feb 28, 2011 · Synced May 22, 2026, 3:51 AM EDT
Completed Phase 1 Interventional
View directory record Official record
Conditions
Cytomegalovirus Retinitis, HIV Infections
Interventions
Aldesleukin
Drug
Lead sponsor
Chiron Corporation
Industry
Eligibility
18 Years and older
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
1
States / cities
Toledo, Ohio
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced May 22, 2026, 3:51 AM EDT
Completed Phase 2 Interventional
View directory record Official record
Conditions
Cytomegalovirus Retinitis, HIV Infections, Gastrointestinal Diseases
Interventions
Ganciclovir
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
13 Years and older
Enrollment
850 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Ends 1995
U.S. locations
17
States / cities
San Francisco, California • Denver, Colorado • Wilmington, Delaware + 12 more
Source: ClinicalTrials.gov public record
Updated Nov 3, 2021 · Synced May 22, 2026, 3:51 AM EDT
Completed Not applicable Interventional Results available
View directory record Official record
Conditions
Phenylketonuria
Interventions
MRI
Other
Lead sponsor
Boston Children's Hospital
Other
Eligibility
18 Years to 55 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2014
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jun 18, 2015 · Synced May 22, 2026, 3:51 AM EDT
Completed No phase listed Observational
View directory record Official record
Conditions
Phenylketonurias
Interventions
Pegvaliase
Drug
Lead sponsor
Boston Children's Hospital
Other
Eligibility
18 Years to 65 Years
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2020
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Mar 3, 2021 · Synced May 22, 2026, 3:51 AM EDT
Recruiting No phase listed Observational
View directory record Official record
Conditions
Phenylketonuria (PKU)
Interventions
Pegvaliase
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
Not listed
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2033
U.S. locations
11
States / cities
Aurora, Colorado • Atlanta, Georgia • Chicago, Illinois + 8 more
Source: ClinicalTrials.gov public record
Updated Mar 23, 2026 · Synced May 22, 2026, 3:51 AM EDT
Active, not recruiting No phase listed Observational
View directory record Official record
Conditions
Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency, Citrullinemia 1, ARGI Deficiency, ASL Deficiency, Argininosuccinic Aciduria, ASS Deficiency, Hyperargininemia
Interventions
Not listed
Lead sponsor
Baylor College of Medicine
Other
Eligibility
6 Years to 65 Years
Enrollment
62 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2026
U.S. locations
5
States / cities
Aurora, Colorado • Washington D.C., District of Columbia • Philadelphia, Pennsylvania + 2 more
Source: ClinicalTrials.gov public record
Updated Apr 26, 2026 · Synced May 22, 2026, 3:51 AM EDT
Terminated No phase listed Observational
View directory record Official record
Conditions
Methylmalonic Acidemia, Propionic Acidemia
Interventions
Registry
Other
Lead sponsor
HemoShear Therapeutics
Industry
Eligibility
Not listed
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Dec 26, 2023 · Synced May 22, 2026, 3:51 AM EDT
Completed No phase listed Observational
View directory record Official record
Conditions
Phenylketonurias
Interventions
PheCheck™, HPLC Amino Acid Analyzer, Dried Blood Spot Cards
Device · Diagnostic Test
Lead sponsor
Lumos Diagnostics
Industry
Eligibility
10 Years and older
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2024
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Sep 14, 2025 · Synced May 22, 2026, 3:51 AM EDT
Completed Phase 2 Interventional Results available
View directory record Official record
Conditions
Phenylketonuria
Interventions
rAvPAL-PEG
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
16 Years to 70 Years
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2015
U.S. locations
9
States / cities
Aurora, Colorado • Gainesville, Florida • Louisville, Kentucky + 6 more
Source: ClinicalTrials.gov public record
Updated Feb 25, 2019 · Synced May 22, 2026, 3:51 AM EDT
Completed No phase listed Observational Accepts healthy volunteers
View directory record Official record
Conditions
Phenylketonuria, Galactosemia, Inborn Errors of Metabolism
Interventions
Not listed
Lead sponsor
University of Miami
Other
Eligibility
Not listed
Enrollment
10 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2006 – 2008
U.S. locations
1
States / cities
Miami, Florida
Source: ClinicalTrials.gov public record
Updated Aug 19, 2014 · Synced May 22, 2026, 3:51 AM EDT
Recruiting No phase listed Observational
View directory record Official record
Conditions
Inherited Ophthalmic Diseases, Hypopigmentation Disorder, Corneal Dystrophy, Blue-cone Monochromacy, Best Disease, Aniridia, Albinism
Interventions
Not listed
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
1 Day to 120 Years
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2054
U.S. locations
2
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated May 3, 2026 · Synced May 22, 2026, 3:51 AM EDT
Completed No phase listed Observational Accepts healthy volunteers
View directory record Official record
Conditions
Phenylketonurias
Interventions
nointervention
Other
Lead sponsor
University of Missouri-Columbia
Other
Eligibility
18 Years to 40 Years
Enrollment
84 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2021
U.S. locations
2
States / cities
Atlanta, Georgia • Columbia, Missouri
Source: ClinicalTrials.gov public record
Updated Apr 21, 2022 · Synced May 22, 2026, 3:51 AM EDT
Completed Not applicable Interventional
View directory record Official record
Conditions
Cytomegalovirus Retinitis, HIV Infections
Interventions
Ganciclovir
Drug
Lead sponsor
Roche Global Development
Other
Eligibility
3 Months to 12 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
8
States / cities
Birmingham, Alabama • Los Angeles, California • Chicago, Illinois + 3 more
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced May 22, 2026, 3:51 AM EDT
Not yet recruiting Phase 4 Interventional
View directory record Official record
Conditions
Phenylketonuria
Interventions
Pegvaliase, Methotrexate
Biological · Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
18 Years to 65 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2027
U.S. locations
12
States / cities
Los Angeles, California • Aurora, Colorado • Tampa, Florida + 9 more
Source: ClinicalTrials.gov public record
Updated Mar 16, 2026 · Synced May 22, 2026, 3:51 AM EDT
Recruiting No phase listed Observational
View directory record Official record
Conditions
Urea Cycle Disorder, Organic Acidemia, Maple Syrup Urine Disease, Glutaric Acidemia I, Fatty Acid Oxidation Disorder, Hypoxic-Ischemic Encephalopathy
Interventions
Not listed
Lead sponsor
Children's National Research Institute
Other
Eligibility
7 Years to 18 Years
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2027
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated Feb 6, 2024 · Synced May 22, 2026, 3:51 AM EDT
Recruiting No phase listed Observational
View directory record Official record
Conditions
Hyperoxaluria, Cystinuria, Dent Disease, Lowe Syndrome, Adenine Phosphoribosyltransferase Deficiency
Interventions
Not listed
Lead sponsor
Mayo Clinic
Other
Eligibility
Not listed
Enrollment
220 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2026
U.S. locations
8
States / cities
Birmingham, Alabama • Jacksonville, Florida • Chicago, Illinois + 5 more
Source: ClinicalTrials.gov public record
Updated Aug 5, 2025 · Synced May 22, 2026, 3:51 AM EDT
Completed Not applicable Interventional
View directory record Official record
Conditions
Cytomegalovirus Infections, HIV Infections
Interventions
Ganciclovir
Drug
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
18 Years and older
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
1
States / cities
Palo Alto, California
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced May 22, 2026, 3:51 AM EDT
Completed Phase 2 Interventional Results available
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 5, 2019 · Synced May 22, 2026, 3:51 AM EDT
Active, not recruiting Phase 3 Interventional
View directory record Official record
Conditions
OTC Deficiency
Interventions
DTX301, Placebo, Oral Corticosteroids, Placebo for oral corticosteroids, Sodium Acetate
Genetic · Other · Drug
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
12 Years and older
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2031
U.S. locations
4
States / cities
Los Angeles, California • Aurora, Colorado • Chicago, Illinois + 1 more
Source: ClinicalTrials.gov public record
Updated Feb 16, 2026 · Synced May 22, 2026, 3:51 AM EDT