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ClinicalTrials.gov public records Last synced Oct 14, 2026, 7:26 PM EDT

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

Showing 217–240 of 260 matching trials from the live ClinicalTrials.gov search.

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

Conditions: Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency, Citrullinemia 1, ARGI Deficiency, ASL Deficiency, Argininosuccinic Aciduria, ASS Deficiency, Hyperargininemia, Carbamyl Phosphate Synthetase Deficiency, NAGS Deficiency
Interventions: Not listed
Lead sponsor: Baylor College of Medicine; Other
Eligibility: Not listed
Enrollment: 70 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2026
U.S. locations: 2
States / cities: Washington D.C., District of Columbia • Houston, Texas

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

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

Conditions: Phenylketonuria, Maternal
Interventions: Pegvaliase; Drug
Lead sponsor: BioMarin Pharmaceutical; Industry
Eligibility: Female only
Enrollment: 50 participants
Timeline: 2022 – 2032
U.S. locations: 1
States / cities: Wilmington, North Carolina

Conditions: Phenylketonurias
Interventions: RTX-134; Drug
Lead sponsor: Rubius Therapeutics; Industry
Eligibility: 18 Years and older
Enrollment: 1 participant
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2022
U.S. locations: 1
States / cities: Aurora, Colorado

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

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

Conditions: Ocular Albinism (OA), Oculocutaneous Albinism (OCA)
Interventions: Lutein plus Zeaxanthin, Placebo; Dietary Supplement
Lead sponsor: Johns Hopkins University; Other
Eligibility: 12 Years and older
Enrollment: 10 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2018
U.S. locations: 1
States / cities: Baltimore, Maryland

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

Conditions: Phenylketonuria
Interventions: tetrahydrobiopterin (BH4); Drug
Lead sponsor: The University of Texas Medical Branch, Galveston; Other
Eligibility: 10 Years and older
Enrollment: 57 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2005 – 2015
U.S. locations: 1
States / cities: Galveston, Texas

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

Conditions: Immune Deficiency, Immune Dysregulation Disorder, Allergic Inflammation
Interventions: Not listed
Lead sponsor: Columbia University; Other
Eligibility: Up to 99 Years
Enrollment: 10,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2010 – 2027
U.S. locations: 1
States / cities: New York, New York

Conditions: Cytomegalovirus Infections, HIV Infections
Interventions: Valganciclovir; Drug
Lead sponsor: National Institute of Allergy and Infectious Diseases (NIAID); NIH
Eligibility: 13 Years and older
Enrollment: 350 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2000 – 2006
U.S. locations: 56
States / cities: Birmingham, Alabama • Los Angeles, California • Palo Alto, California + 33 more

Conditions: N-acetylglutamate Synthase (NAGS) Deficiency
Interventions: Not listed
Lead sponsor: Nicholas Ah Mew; Other
Eligibility: Not listed
Enrollment: 30 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2027
U.S. locations: 3
States / cities: Washington D.C., District of Columbia • Boston, Massachusetts • New York, New York

Conditions: Healthy Volunteers, Propionic Acidemia, Methylmalonic Acidemia, Organic Acidemia
Interventions: BBP-671, Placebo; Drug
Lead sponsor: CoA Therapeutics, Inc., a BridgeBio company; Industry
Eligibility: 15 Years to 55 Years
Enrollment: 79 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2021 – 2023
U.S. locations: 3
States / cities: Topeka, Indiana • Pittsburgh, Pennsylvania • Austin, Texas

Conditions: Cytomegalovirus Retinitis, HIV Infections
Interventions: Sevirumab, Foscarnet sodium, Ganciclovir; Drug
Lead sponsor: National Institute of Allergy and Infectious Diseases (NIAID); NIH
Eligibility: 13 Years and older
Enrollment: 167 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Ends 1998
U.S. locations: 20
States / cities: Birmingham, Alabama • Los Angeles, California • San Jose, California + 13 more

Conditions: Phenylketonuria
Interventions: SYNB1618, SYNB1934; Drug
Lead sponsor: Synlogic; Industry
Eligibility: 18 Years and older
Enrollment: 20 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2022
U.S. locations: 11
States / cities: Aurora, Colorado • Boca Raton, Florida • Gainesville, Florida + 7 more

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

Conditions: Phenylketonurias
Interventions: Not listed
Lead sponsor: Boston Children's Hospital; Other
Eligibility: 18 Years to 65 Years
Enrollment: 12 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2023
U.S. locations: 1
States / cities: Boston, Massachusetts

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

Conditions: Phenylketonuria
Interventions: rAvPAL-PEG; Drug
Lead sponsor: BioMarin Pharmaceutical; Industry
Eligibility: 16 Years to 50 Years
Enrollment: 25 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008 – 2009
U.S. locations: 8
States / cities: Chicago, Illinois • Minneapolis, Minnesota • St Louis, Missouri + 5 more

Conditions: Phenylketonuria (PKU)
Interventions: BMN 307; Drug
Lead sponsor: BioMarin Pharmaceutical; Industry
Eligibility: 15 Years and older
Enrollment: 100 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2027
U.S. locations: 2
States / cities: Tampa, Florida • Morristown, New Jersey

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

Conditions: Phenylketonurias
Interventions: PKU Sphere; Dietary Supplement
Lead sponsor: Vitaflo International, Ltd; Industry
Eligibility: 3 Years and older
Enrollment: 28 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2019
U.S. locations: 1
States / cities: Portland, Oregon

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Hepatic Histopathology in Urea Cycle Disorders

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

Genetic Analysis of Oculocerebrorenal Syndrome of Lowe

A Global, Multicenter Study to Assess Maternal, Fetal and Infant Outcomes of Exposure to Palynziq® (Pegvaliase) During Pregnancy and Breastfeeding

Safety and Tolerability of RTX-134 in Adults With Phenylketonuria

The Safety and Effectiveness of Ganciclovir Used Alone or in Combination With Granulocyte-Macrophage Colony Stimulating Factor in the Treatment of Cytomegalovirus (CMV) of the Eye in Patients With AIDS

Dose-Escalation Safety Study of HPN-100 to Treat Urea Cycle Disorders

The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With Albinism

A Long Term, Post-marketing Study of Immune Response in Patients Receiving Palynziq Treatment for PKU (PALisade)

Response to Phenylketonuria to Tetrahydrobiopterin (BH4)

Study to Evaluate the Effects of Kuvan on Individuals With Phenylketonuria (PKU) With Maladaptive Behaviors

Allergy and Immunology Natural History Study

Preventing Cytomegalovirus (CMV) Organ Damage With Valganciclovir in People With HIV

Orphan Europe Carbaglu® Surveillance Protocol

A First in Human, Dose Escalation Study to Evaluate the Safety and Tolerability of BBP-671 in Healthy Volunteers and Patients With Propionic Acidemia or Methylmalonic Acidemia

Comparison of Two Methods in the Treatment of Cytomegalovirus of the Eyes in Patients With AIDS

Efficacy and Safety of SYNB1618 and SYNB1934 in Adult Patients With Phenylketonuria

Nutrition Status of Adults Treated With Pegvaliase

Nutrition Status of Adults With PKU Before and During Treatment With Pegvaliase

Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder

Safety and Tolerability Study of rAvPAL-PEG to Treat Phenylketonuria

AAV Gene Therapy Study for Subjects with PKU

The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study

Evaluation of PKU Sphere