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ClinicalTrials.gov public records Last synced May 22, 2026, 5:52 AM EDT

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

Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
Filters: Condition: Amino Acid Metabolism, Inborn Errors Clear all
Completed Not applicable Interventional
View directory record Official record
Conditions
Cytomegalovirus Retinitis, HIV Infections
Interventions
Zidovudine, Sargramostim, Ganciclovir
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
13 Years to 65 Years
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Ends 1992
U.S. locations
4
States / cities
Los Angeles, California • Boston, Massachusetts • New York, New York + 1 more
Source: ClinicalTrials.gov public record
Updated Nov 3, 2021 · Synced May 22, 2026, 5:52 AM EDT
Completed No phase listed Observational Accepts healthy volunteers
View directory record Official record
Conditions
Barth Syndrome
Interventions
Not listed
Lead sponsor
Duke University
Other
Eligibility
8 Years to 35 Years · Male only
Enrollment
64 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2020
U.S. locations
1
States / cities
St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Jun 1, 2020 · Synced May 22, 2026, 5:52 AM EDT
Completed Not applicable Interventional
View directory record Official record
Conditions
Cytomegalovirus Infections, HIV Infections
Interventions
Zidovudine, Ganciclovir
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
18 Years and older
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Ends 1990
U.S. locations
3
States / cities
San Diego, California • New York, New York • Rochester, New York
Source: ClinicalTrials.gov public record
Updated Nov 3, 2021 · Synced May 22, 2026, 5:52 AM EDT
Completed Not applicable 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
13 Years and older
Enrollment
240 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 Mar 13, 2011 · Synced May 22, 2026, 5:52 AM EDT
Terminated No phase listed Observational
View directory record Official record
Conditions
Phenylketonuria
Interventions
Kuvan
Drug
Lead sponsor
Washington University School of Medicine
Other
Eligibility
6 Years to 18 Years
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2010
U.S. locations
4
States / cities
Chicago, Illinois • Columbia, Missouri • St Louis, Missouri + 1 more
Source: ClinicalTrials.gov public record
Updated Dec 4, 2013 · Synced May 22, 2026, 5:52 AM EDT
Completed Phase 4 Interventional Results available
View directory record Official record
Conditions
Chronic Myelogenous Leukemia (CML), Metastatic Gastrointestinal Stromal Tumors (GIST), Acute Lymphoblastic Leukemia (ALL), Receptor Tyrosine Kinase (KIT) Mutated Melanoma
Interventions
Nilotinib
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
Not listed
Enrollment
57 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2023
U.S. locations
2
States / cities
Albany, New York • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Feb 7, 2024 · Synced May 22, 2026, 5:52 AM EDT
Recruiting No phase listed Observational
View directory record Official record
Conditions
Chediak-Higashi Syndrome
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month to 70 Years
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2002
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated May 19, 2026 · Synced May 22, 2026, 5:52 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers
View directory record Official record
Conditions
Sexual Assault, Substance Use, Risky Health Behavior, Ema
Interventions
Ecological Momentary Intervention
Behavioral
Lead sponsor
University of New Mexico
Other
Eligibility
18 Years to 24 Years · Female only
Enrollment
183 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2023
U.S. locations
1
States / cities
Albuquerque, New Mexico
Source: ClinicalTrials.gov public record
Updated Apr 1, 2024 · Synced May 22, 2026, 5:52 AM EDT
Completed Phase 2 Interventional Results available
View directory record Official record
Conditions
Propionic Acidemia, Type I and/or Type II, Methylmalonic Acidemia, Carbamoyl-Phosphate Synthase I Deficiency Disease, Ornithine Carbamoyltransferase Deficiency
Interventions
Carbaglu, Placebo
Drug
Lead sponsor
Mendel Tuchman
Other
Eligibility
1 Week to 99 Years
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2020
U.S. locations
9
States / cities
Los Angeles, California • Palo Alto, California • Aurora, Colorado + 6 more
Source: ClinicalTrials.gov public record
Updated Feb 14, 2021 · Synced May 22, 2026, 5:52 AM EDT
Recruiting Phase 1Phase 2 Interventional
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 Apr 14, 2026 · Synced May 22, 2026, 5:52 AM EDT
Completed Phase 3 Interventional Results available
View directory record Official record
Conditions
Arginase I Deficiency, Hyperargininemia
Interventions
Pegzilarginase, Placebo
Drug
Lead sponsor
Aeglea Biotherapeutics
Industry
Eligibility
2 Years and older
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2023
U.S. locations
17
States / cities
Rogers, Arkansas • Orange, California • Stanford, California + 14 more
Source: ClinicalTrials.gov public record
Updated Nov 18, 2024 · Synced May 22, 2026, 5:52 AM EDT
Active, not recruiting Phase 1Phase 2 Interventional
View directory record Official record
Conditions
Homocystinuria
Interventions
Pegtibatinase, Placebo
Drug
Lead sponsor
Travere Therapeutics, Inc.
Industry
Eligibility
12 Years to 65 Years
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2026
U.S. locations
8
States / cities
Culver City, California • Aurora, Colorado • Miami, Florida + 5 more
Source: ClinicalTrials.gov public record
Updated Nov 21, 2024 · Synced May 22, 2026, 5:52 AM EDT
Recruiting Phase 2 Interventional
View directory record Official record
Conditions
OTC Deficiency, Ornithine Transcarbamylase Deficiency, OTCD
Interventions
ARCT-810
Biological
Lead sponsor
Arcturus Therapeutics, Inc.
Industry
Eligibility
12 Years and older
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
1
States / cities
Chevy Chase, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 16, 2025 · Synced May 22, 2026, 5:52 AM EDT
Terminated No phase listed Observational
View directory record Official record
Conditions
Ornithine Transcarbamylase Deficiency
Interventions
No Intervention
Other
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
18 Years and older
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2021
U.S. locations
1
States / cities
Orlando, Florida
Source: ClinicalTrials.gov public record
Updated Feb 17, 2022 · Synced May 22, 2026, 5:52 AM EDT
Completed Phase 2 Interventional Results available
View directory record Official record
Conditions
Urea Cycle Disorders
Interventions
HPN-100, BUPHENYL®
Drug
Lead sponsor
Amgen
Industry
Eligibility
18 Years and older
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2008
U.S. locations
2
States / cities
Minneapolis, Minnesota • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jul 9, 2024 · Synced May 22, 2026, 5:52 AM EDT
Completed Phase 1Phase 2 Interventional Results available
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 25, 2019 · Synced May 22, 2026, 5:52 AM EDT
Completed No phase listed Observational Accepts healthy volunteers
View directory record Official record
Conditions
Phenylketonurias
Interventions
Skin Tape, Blood Draw
Other · Diagnostic Test
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
Not listed
Enrollment
86 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2021
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Jul 27, 2021 · Synced May 22, 2026, 5:52 AM EDT
Completed Phase 2 Interventional Results available
View directory record Official record
Conditions
Albinism, Inborn Errors of Metabolism, Oculocutaneous Albinism, Platelet Storage Pool Deficiency, Pulmonary Fibrosis
Interventions
Pirfenidone, Placebo
Drug
Lead sponsor
William Gahl, M.D.
NIH
Eligibility
18 Years and older
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2016
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 15, 2017 · Synced May 22, 2026, 5:52 AM EDT
Recruiting Not applicable Interventional
View directory record Official record
Conditions
ARG1 Deficiency
Interventions
Loargys Arginine Test System
Device
Lead sponsor
Immedica Pharma US Inc
Industry
Eligibility
0 Years to 100 Years
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2027
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated May 6, 2026 · Synced May 22, 2026, 5:52 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers
View directory record Official record
Conditions
Metabolic Disease, Propionic Acidemia, Organic Acidemia
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month to 100 Years
Enrollment
1,045 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2036
U.S. locations
2
States / cities
Bethesda, Maryland • Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Apr 19, 2026 · Synced May 22, 2026, 5:52 AM EDT
Completed Phase 4 Interventional Results available
View directory record Official record
Conditions
Phenylketonuria (PKU)
Interventions
Kuvan, Large Neutral Amino Acid Therapy
Drug · Dietary Supplement
Lead sponsor
University of Southern California
Other
Eligibility
18 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2014
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Nov 17, 2016 · Synced May 22, 2026, 5:52 AM EDT
Completed No phase listed Observational
View directory record Official record
Conditions
Blood Coagulation Disorders
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
2 Years to 80 Years
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2011
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 1, 2017 · Synced May 22, 2026, 5:52 AM EDT
Completed Phase 1 Interventional Accepts healthy volunteers
View directory record Official record
Conditions
Phenylketonuria
Interventions
sapropterin dihydrochloride, Moxifloxacin, Moxifloxacin placebo
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
18 Years to 50 Years
Enrollment
56 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2008 – 2009
U.S. locations
1
States / cities
Fargo, North Dakota
Source: ClinicalTrials.gov public record
Updated Jul 22, 2021 · Synced May 22, 2026, 5:52 AM EDT
Completed Phase 1 Interventional Accepts healthy volunteers
View directory record Official record
Conditions
Healthy Volunteer, Urea Cycle Disorder
Interventions
Placebo, SYNB1020
Drug
Lead sponsor
Synlogic
Industry
Eligibility
18 Years to 64 Years
Enrollment
52 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2018
U.S. locations
1
States / cities
Brooklyn, Maryland
Source: ClinicalTrials.gov public record
Updated May 11, 2021 · Synced May 22, 2026, 5:52 AM EDT