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 Nov 6, 2026, 9:32 AM EST

All trial information on this site comes from the official ClinicalTrials.gov public API (clinicaltrials.gov/api/v2), run by the U.S. National Library of Medicine. We only display that public information; we do not add opinions, endorsements, or any other intent. Always review the official ClinicalTrials.gov record for the latest information.

Showing 1009–1032 of 1,513 matching trials from the live ClinicalTrials.gov search.

Filters: Condition: Inborn Errors of Metabolism Disorders Clear all

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: MPS IV A
Interventions: BMN 110 Weekly, Placebo, BMN 110 Every Other Week; Drug
Lead sponsor: BioMarin Pharmaceutical; Industry
Eligibility: 5 Years and older
Enrollment: 177 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2012
U.S. locations: 6
States / cities: Oakland, California • Wilmington, Delaware • Washington D.C., District of Columbia + 3 more

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

Conditions: Pompe Disease, Glycogen Storage Disease Type II
Interventions: Observation; Other
Lead sponsor: Amicus Therapeutics; Industry
Eligibility: Not listed
Enrollment: 30 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2007 – 2008
U.S. locations: 4
States / cities: Gainesville, Florida • St Louis, Missouri • Lake Success, New York + 1 more

Conditions: Lysosomal Acid Lipase Deficiency, Cholesterol Ester Storage Disease, Wolman Disease, Acid Cholesteryl Ester Hydrolase Deficiency, Type 2, Acid Lipase Deficiency, LIPA Deficiency, LAL-Deficiency
Interventions: Not listed
Lead sponsor: Alexion Pharmaceuticals, Inc.; Industry
Eligibility: Not listed
Enrollment: 300 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2029
U.S. locations: 19
States / cities: Phoenix, Arizona • Stanford, California • Miramar, Florida + 14 more

Conditions: Congenital Disorders of Glycosylation
Interventions: Not listed
Lead sponsor: Mayo Clinic; Other
Eligibility: Not listed
Enrollment: 240 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2019 – 2025
U.S. locations: 1
States / cities: Rochester, Minnesota

Conditions: Gout, Hyperuricemia
Interventions: Uricase-PEG 20; Biological
Lead sponsor: EnzymeRx; Industry
Eligibility: 40 Years to 75 Years
Enrollment: 28 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2009 – 2010
U.S. locations: 2
States / cities: Miami, Florida • Duncansville, Pennsylvania

Conditions: Mucopolysaccharidosis III-A
Interventions: No intervention; Other
Lead sponsor: Sanguine Biosciences; Industry
Eligibility: 4 Months to 13 Years
Enrollment: 15 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2025
U.S. locations: 1
States / cities: Woburn, Massachusetts

Conditions: Phenylketonurias, PKU
Interventions: Not listed
Lead sponsor: Homology Medicines, Inc; Industry
Eligibility: 18 Years to 55 Years
Enrollment: 7 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2023
U.S. locations: 8
States / cities: Los Angeles, California • Orange, California • Tampa, Florida + 5 more

Conditions: Krabbe Disease
Interventions: FBX-101; Biological
Lead sponsor: Duke University; Other
Eligibility: Up to 18 Years
Enrollment: 9 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2028
U.S. locations: 1
States / cities: Durham, North Carolina

Conditions: Hypercholesterolemia, Atherosclerotic Cardiovascular Disease
Interventions: bempedoic acid, placebo; Drug
Lead sponsor: Esperion Therapeutics, Inc.; Industry
Eligibility: 18 Years and older
Enrollment: 779 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2018
U.S. locations: 2
States / cities: Clearwater, Florida • Georgetown, Texas

Conditions: Mucopolysaccharidosis Type IIIA, Mucopolysaccharidosis Type IIIB
Interventions: Lumbar puncture, Magnetic Resonance Imaging (MRI) of the brain; Procedure · Device
Lead sponsor: Nationwide Children's Hospital; Other
Eligibility: 2 Years and older
Enrollment: 25 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2015
U.S. locations: 1
States / cities: Columbus, Ohio

Conditions: Gaucher's Disease
Interventions: Eliglustat; Drug
Lead sponsor: Sanofi; Industry
Eligibility: 18 Years to 65 Years
Enrollment: 18 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2018
U.S. locations: 1
States / cities: Dallas, 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: Hypercholesterolemia, Hypercholesterolemia, Familial, Hypercholesteremia in Children, Hyperlipidemia in Children
Interventions: Best Practice Alert, Health Maintenance Topic; Behavioral
Lead sponsor: Geisinger Clinic; Other
Eligibility: 9 Years to 11 Years
Enrollment: 13,340 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2020
U.S. locations: 1
States / cities: Danville, Pennsylvania

Conditions: Pompe Disease
Interventions: Observational; Other
Lead sponsor: Duke University; Other
Eligibility: Not listed
Enrollment: 400 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2029
U.S. locations: 1
States / cities: Durham, North Carolina

Conditions: Tay-Sachs Disease, Sandhoff Disease
Interventions: AXO-AAV-GM2 Starting Dose, AXO-AAV-GM2 Low Dose, AXO-AAV-GM2 Middle Dose, AXO-AAV-GM2 High Dose; Biological
Lead sponsor: Terence Flotte; Other
Eligibility: 6 Months to 12 Years
Enrollment: 9 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2024
U.S. locations: 2
States / cities: Boston, Massachusetts • Worcester, Massachusetts

Conditions: Metachromatic Leukodystrophy
Interventions: Enriched Hematopoetic Stem Cell Infusion; Biological
Lead sponsor: Talaris Therapeutics Inc.; Industry
Eligibility: 3 Years and older · Male only
U.S. locations: 1
States / cities: Durham, North Carolina

Conditions: X-linked Adrenoleukodystrophy
Interventions: vitamin D3; Dietary Supplement
Lead sponsor: Stanford University; Other
Eligibility: 18 Months to 25 Years · Male only
Enrollment: 21 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2020
U.S. locations: 1
States / cities: Palo Alto, California

Conditions: Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency, Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2), Mitochondrial Trifunctional Protein Deficiency, Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency, Glycogen Storage Disorders, Pyruvate Carboxylase Deficiency Disease, ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY of, Barth Syndrome
Interventions: triheptanoin; Drug
Lead sponsor: Jerry Vockley, MD, PhD; Other
Eligibility: 1 Month and older
Healthy volunteers: Healthy volunteers not accepted
U.S. locations: 1
States / cities: Pittsburgh, Pennsylvania

Conditions: Pompe Disease
Interventions: Alglucosidase alfa; Drug
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: 1 Year and older
Enrollment: 113 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2014
U.S. locations: 51
States / cities: Birmingham, Alabama • Phoenix, Arizona • Little Rock, Arkansas + 48 more

Conditions: Oxidative Phosphorylation Deficiencies, Electron Transport Chain Disorders, Mitochondrial, Mitochondrial Disorders, Leigh Disease
Interventions: Not listed
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Eligibility: 4 Weeks to 115 Years
Enrollment: 500 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: Started 2012
U.S. locations: 1
States / cities: Bethesda, Maryland

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

Conditions: Rheumatic Diseases, Gout, Adherence, Medication, Lupus Erythematosus, Systemic
Interventions: Cue-Reward Intervention, Cue-Reward Intervention with possible intensification; Behavioral
Lead sponsor: Brigham and Women's Hospital; Other
Eligibility: 18 Years to 85 Years
Enrollment: 62 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2022
U.S. locations: 1
States / cities: Boston, Massachusetts

Search by objective public record fields.

Nutrition Status of Adults Treated With Pegvaliase

A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)

Study of Chediak-Higashi Syndrome

A Study to Evaluate the Effects of Pharmacological Chaperones in Cells From Patients With Pompe Disease

Lysosomal Acid Lipase (LAL) Deficiency Registry

Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism

Safety and Efficacy Study of Intramuscular Uricase-PEG 20

A Natural History Study of Biomarkers and Clinical Outcomes in Mucopolysaccharidosis Type IIIA (MPS IIIA; Sanfilippo Syndrome)

Natural History Clinical Study in Adult PKU

Gene Transfer Clinical Trial for Infantile and Late Infantile Krabbe Disease Treated Previously With HSCT

Evaluation of Long-Term Efficacy of Bempedoic Acid (ETC-1002) in Patients With Hyperlipidemia at High Cardiovascular Risk

Natural History Studies of Mucopolysaccharidosis III

A Study to Evaluate Pharmacokinetic Parameters of Eliglustat in Healthy Volunteers Who Are CYP2D6 Extensive or Poor Metabolizers

Safety and Tolerability Study of rAvPAL-PEG to Treat Phenylketonuria

Evaluating the Efficacy of Pediatric Lipid Screening Alerts

Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease

A Dose-escalation and Safety & Efficacy Study of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease

Allogeneic Stem Cell Transplantation for the Treatment of Multiple Sclerosis (Compassionate Use)

A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy

Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism

A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe Disease

The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism

A Study to Evaluate the Pharmacodynamics and Safety of ARCT-810 in Participants With OTCD

Medication Adherence Patterns in Rheumatic Diseases: A Behavioral Trial