Search | Clinical Trials Finder

These results were retrieved from the live ClinicalTrials.gov registry. Filters and sort order apply to this result list.

ClinicalTrials.gov public records Last synced Oct 14, 2026, 3:49 PM EDT

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

Showing 193–216 of 260 matching trials from the live ClinicalTrials.gov search.

Filters: Condition: Amino Acid Metabolism, Inborn Errors Clear all

Conditions: Alkaptonuria
Interventions: Nitisinone; Drug
Lead sponsor: University of California, San Diego; Other
Eligibility: Not listed
Enrollment: 8 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2016
U.S. locations: 1
States / cities: La Jolla, California

Conditions: Phenylketonuria
Interventions: JNT-517 Tablet, Placebo Tablet: BID; Drug
Lead sponsor: Otsuka Pharmaceutical Development & Commercialization, Inc.; Industry
Eligibility: 18 Years and older
Enrollment: 120 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2028
U.S. locations: 10
States / cities: Los Angeles, California • Gainesville, Florida • Tampa, Florida + 7 more

Conditions: Urea Cycle Disorder
Interventions: Diagnostic Ultrasound; Other
Lead sponsor: Baylor College of Medicine; Other
Eligibility: 5 Years to 60 Years
Enrollment: 28 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017 – 2020
U.S. locations: 1
States / cities: Houston, Texas

Conditions: Urea Cycle Disorder
Interventions: Not listed
Lead sponsor: Amgen; Industry
Eligibility: Not listed
Enrollment: 203 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2020
U.S. locations: 1
States / cities: Blue Bell, Pennsylvania

Conditions: Urea Cycle Disorders
Interventions: MRI, Behavioral; Procedure · Behavioral
Lead sponsor: Children's National Research Institute; Other
Eligibility: 7 Years to 50 Years
Enrollment: 56 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2016 – 2025
U.S. locations: 1
States / cities: Washington D.C., District of Columbia

Conditions: Oculocutaneous Albinism
Interventions: Not listed
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Eligibility: 1 Year to 80 Years
Enrollment: 206 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008 – 2019
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Homocystinuria Due to Cystathionine Beta-Synthase Deficiency
Interventions: Pegtarviliase IV, Pegtarviliase SC; Drug
Lead sponsor: Aeglea Biotherapeutics; Industry
Eligibility: 12 Years and older
Enrollment: 13 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2023
U.S. locations: 1
States / cities: Dallas, Texas

Conditions: Pregnancy, Phenylketonuria
Interventions: Metabolic camp; Behavioral
Lead sponsor: Emory University; Other
Eligibility: 11 Years and older · Female only
Enrollment: 200 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 1995 – 2037
U.S. locations: 1
States / cities: Atlanta, Georgia

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 – 2028
U.S. locations: 8
States / cities: Birmingham, Alabama • Jacksonville, Florida • Chicago, Illinois + 5 more

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

Conditions: Phenylketonurias
Interventions: sapropterin dihydrochloride; Drug
Lead sponsor: BioMarin Pharmaceutical; Industry
Eligibility: 8 Years and older
Enrollment: 100 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2005 – 2006
U.S. locations: 14
States / cities: Los Angeles, California • Oakland, California • Sacramento, California + 11 more

Conditions: COPD, Tetrahydrobiopterin Deficiency, Oxidative Stress
Interventions: Tetrahydrobiopterin, Placebo oral tablet; Drug
Lead sponsor: University of Massachusetts, Amherst; Other
Eligibility: 18 Years to 85 Years
Healthy volunteers: Accepts healthy volunteers
Timeline: 2021 – 2022
U.S. locations: 1
States / cities: Amherst, Massachusetts

Conditions: Phenylketonuria
Interventions: Administration of CANTAB and Subject Global Assessment; Other
Lead sponsor: BioMarin Pharmaceutical; Industry
Eligibility: 18 Years to 70 Years
Enrollment: 9 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2017
U.S. locations: 4
States / cities: Lexington, Kentucky • Omaha, Nebraska • Oklahoma City, Oklahoma + 1 more

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

Conditions: Brain Diseases, Metabolic, Inborn, Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency
Interventions: Not listed
Lead sponsor: Andrea Gropman; Other
Eligibility: 18 Years to 60 Years
Enrollment: 46 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2007 – 2010
U.S. locations: 2
States / cities: Washington D.C., District of Columbia

Conditions: Cytomegalovirus Infections
Interventions: Not listed
Lead sponsor: National Institute of Allergy and Infectious Diseases (NIAID); NIH
Eligibility: 9 Years to 14 Years
Enrollment: 8 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2001 – 2005
U.S. locations: 1
States / cities: Birmingham, Alabama

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

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

Conditions: Cytomegalovirus Retinitis, HIV Infections
Interventions: Ganciclovir; Drug
Lead sponsor: Roche Global Development; Other
Eligibility: 13 Years and older
Enrollment: 450 participants
Healthy volunteers: Healthy volunteers not accepted
U.S. locations: 23
States / cities: Beverly Hills, California • Irvine, California • Los Angeles, California + 16 more

Conditions: Phenylketonuria, PKU
Interventions: Acute Moderate Intensity Exercise; Other
Lead sponsor: Oregon Health and Science University; Other
Eligibility: 14 Years to 17 Years · Male only
Enrollment: 2 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2014
U.S. locations: 1
States / cities: Portland, Oregon

Conditions: Phenylketonuria (PKU)
Interventions: Not listed
Lead sponsor: BioMarin Pharmaceutical; Industry
Eligibility: 18 Years to 70 Years
Enrollment: 63 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2019
U.S. locations: 4
States / cities: Gainesville, Florida • Decatur, Georgia • Chicago, Illinois + 1 more

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

Conditions: Phenylketonurias
Interventions: PreKUnil® LNAA Medical Food for PKU; Other
Lead sponsor: University of Southern California; Other
Eligibility: 18 Years and older
Enrollment: 10 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2024
U.S. locations: 1
States / cities: Los Angeles, California

Conditions: Phenylketonuria
Interventions: saproterin dihydrochloride, Diet treatment; Drug · Other
Lead sponsor: University Hospitals Cleveland Medical Center; Other
Eligibility: 2 Years to 60 Years
Enrollment: 7 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2019
U.S. locations: 1
States / cities: Cleveland, Ohio

Search by objective public record fields.

Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria

A Study of JNT-517 in Participants With Phenylketonuria (PKU)

Chronic Liver Disease in Urea Cycle Disorders

Observational Study That Will Collect Information on Patients With Urea Cycle Disorders (UCDs)

Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders

Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism

A Multiple Ascending Dose Study of ACN00177 (Pegtarviliase) in Subjects With CBS Deficiency

Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria

Prospective Research Rare Kidney Stones (ProRKS)

Nitisinone for Type 1B Oculocutaneous Albinism

A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With PKU Who Have Elevated Phenylalanine Levels

O2 Transport and Utilization in Health and Lung Disease

A Phase 3 Substudy to Evaluate Executive Function in Adults With PKU Who Are Participating in the Phase 3 Study, 165-302

PheCheck Feasibility Study

Neurologic Injuries in Adults With Urea Cycle Disorders

Neonatal CMV-Ganciclovir Follow-up Study

Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia

Behavioral Effects of Kuvan in Children With Mild Phenylketonuria

A Randomized, Controlled Study of the Safety and Preventive Efficacy of Oral Ganciclovir When Used in Conjunction With An Intravitreal Ganciclovir Implant in the Treatment of Cytomegalovirus Retinitis

Moderate Intensity Exercise and Phenylketonuria

A Non-Interventional Interview Study of Phenylketonuria (PKU) Adults

Ganciclovir: Compassionate Use in Patients With Serious or Life-Threatening Cytomegalovirus Infections

Additional Dietary Large Neutral Amino Acids (LNAA) for Improved Symptoms in Adult Classical Phenylktonuria (PKU)

The Effectiveness of Kuvan in Amish PKU Patients