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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 19, 2026, 3:34 AM EDT

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

Showing 1177–1200 of 1,605 matching trials from the live ClinicalTrials.gov search.

Filters: Condition: Inborn Errors of Metabolism Clear all

Conditions: Variant Late-Infantile Neuronal Ceroid Lipofuscinosis
Interventions: AT-GTX-501; Genetic
Lead sponsor: Emily de los Reyes; Other
Eligibility: 1 Year and older
Enrollment: 13 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2024
U.S. locations: 1
States / cities: Columbus, Ohio

Conditions: Fabry Disease
Interventions: GZ/SAR402671; Drug
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: 18 Years to 49 Years · Male only
Enrollment: 11 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2016
U.S. locations: 3
States / cities: Atlanta, Georgia • Cincinnati, Ohio • Fairfax, Virginia

Conditions: Phenylketonurias
Interventions: Not listed
Lead sponsor: BioMarin Pharmaceutical; Industry
Eligibility: 14 Years and older
Enrollment: 32 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2022
U.S. locations: 14
States / cities: Aurora, Colorado • Gainesville, Florida • Tampa, Florida + 11 more

Conditions: Metachromatic Leukodystrophy
Interventions: Warfarin; Drug
Lead sponsor: The Cooper Health System; Other
Eligibility: 1 Year to 10 Years
Enrollment: 10 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2007 – 2008
U.S. locations: 1
States / cities: Camden, New Jersey

Conditions: Congenital Adrenal Hyperplasia, CAH - Congenital Adrenal Hyperplasia
Interventions: SPR001; Drug
Lead sponsor: Spruce Biosciences; Industry
Eligibility: 18 Years and older
Enrollment: 24 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017 – 2019
U.S. locations: 9
States / cities: Orange, California • San Diego, California • Melbourne, Florida + 6 more

Conditions: Menkes Disease, Occipital Horn Syndrome
Interventions: Droxidopa, Placebo; Drug · Other
Lead sponsor: Stephen G. Kaler, MD; Other
Eligibility: 18 Years to 50 Years
Enrollment: 3 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2024
U.S. locations: 1
States / cities: New York, New York

Conditions: Glycogen Storage Disease Type II
Interventions: avalglucosidase alfa; Drug
Lead sponsor: Sanofi; Industry
Eligibility: 0 Days to 12 Months
Enrollment: 17 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2027
U.S. locations: 6
States / cities: Stanford, California • Minneapolis, Minnesota • Hawthorne, New York + 3 more

Conditions: Wilson Disease
Interventions: Once a day Trientine; Drug
Lead sponsor: Yale University; Other
Eligibility: 18 Years and older
Enrollment: 8 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2011
U.S. locations: 1
States / cities: New Haven, Connecticut

Conditions: Hyperbilirubinemia, Jaundice
Interventions: Gene mutation sample; Procedure
Lead sponsor: Pediatrix; Other
Eligibility: Up to 6 Days
Enrollment: 450 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2006 – 2007
U.S. locations: 1
States / cities: Greenville, South Carolina

Conditions: CLN7
Interventions: AAV9/CLN7; Genetic
Lead sponsor: Benjamin Greenberg; Other
Eligibility: 1 Year to 18 Years
Enrollment: 4 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2029
U.S. locations: 1
States / cities: Dallas, Texas

Conditions: Cytomegalovirus Retinitis, HIV Infections
Interventions: Interferon beta-1b, Ganciclovir; Drug
Lead sponsor: Hoffmann-La Roche; Industry
Eligibility: 18 Years to 60 Years
Healthy volunteers: Healthy volunteers not accepted
U.S. locations: 6
States / cities: Los Angeles, California • Orange, California • San Diego, California + 3 more

Conditions: GM1 Gangliosidosis, Sandhoff Disease, Tay-Sachs Disease
Interventions: Not listed
Lead sponsor: Azafaros B.V.; Industry
Eligibility: 2 Years to 20 Years
Enrollment: 31 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2025
U.S. locations: 2
States / cities: Oakland, California • Rochester, Minnesota

Conditions: Mucopolysaccharidosis VI
Interventions: N-acetylgalactosamine 4-sulfatase; Drug
Lead sponsor: BioMarin Pharmaceutical; Industry
Eligibility: 5 Years and older
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2002 – 2006
U.S. locations: 1
States / cities: Novato, California

Conditions: Juvenile Neuronal Ceroid Lipofuscinosis, Smith-Lemli-Opitz Syndrome, Creatine Transporter Deficiency, Niemann-Pick Disease Type C1
Interventions: Not listed
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: 6 Months to 110 Years
Enrollment: 73 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2025
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Canavan Disease
Interventions: rAAV-Olig001-ASPA, Levetiracetam, Prednisone; Drug
Lead sponsor: Myrtelle Inc.; Industry
Eligibility: 3 Months to 60 Months
Enrollment: 24 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2027
U.S. locations: 1
States / cities: Dayton, Ohio

Conditions: Pompe Disease, Pregnancy
Interventions: avalglucosidase alfa-NGPT (GZ402666) IV, avalglucosidase alfa-NGPT (GZ402666); Biological
Lead sponsor: Sanofi; Industry
Eligibility: Female only
Enrollment: 100 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2032
U.S. locations: 1
States / cities: Bridgewater, New Jersey

Conditions: MPS I, MPS IV A, MPS - Mucopolysaccharidosis, MPS IVA
Interventions: Not listed
Lead sponsor: Children's Hospital of Orange County; Other
Eligibility: 0 Years to 99 Years
Enrollment: 240 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2025 – 2030
U.S. locations: 3
States / cities: Orange, California • Minneapolis, Minnesota • St Louis, Missouri

Conditions: Mucopolysaccharidoses
Interventions: Not listed
Lead sponsor: University of Minnesota; Other
Eligibility: 3 Years to 18 Years
Enrollment: 1,147 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2017
U.S. locations: 2
States / cities: Orange, California • Minneapolis, Minnesota

Conditions: Congenital Adrenal Hyperplasia
Interventions: Nifedipine; Drug
Lead sponsor: National Center for Research Resources (NCRR); NIH
Eligibility: 14 Years to 35 Years
Healthy volunteers: Healthy volunteers not accepted
U.S. locations: 1
States / cities: Charleston, South Carolina

Conditions: Homocystinuria
Interventions: taurine; Drug
Lead sponsor: University of Colorado, Denver; Other
Eligibility: 8 Years to 49 Years
Enrollment: 15 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2017
U.S. locations: 4
States / cities: Aurora, Colorado • Durham, North Carolina • Philadelphia, Pennsylvania

Conditions: Barth Syndrome
Interventions: Elamipretide, Placebo; Drug
Lead sponsor: Stealth BioTherapeutics Inc.; Industry
Eligibility: 5 Years to 55 Years · Male only
Enrollment: 48 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2029
U.S. locations: 1
States / cities: Needham, Massachusetts

Conditions: Urea Cycle Disorders
Interventions: HPN-100; Drug
Lead sponsor: Amgen; Industry
Eligibility: 1 Year and older
Enrollment: 88 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2017
U.S. locations: 15
States / cities: Los Angeles, California • Palo Alto, California • Aurora, Colorado + 12 more

Conditions: Autonomous Cortisol Secretion, Mild Autonomous Cortisol Secretion (MACS)
Interventions: Metyrapone; Drug
Lead sponsor: Mayo Clinic; Other
Eligibility: 18 Years and older
Enrollment: 30 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2028
U.S. locations: 1
States / cities: Rochester, Minnesota

Conditions: Hurler's Syndrome, Maroteaux-Lamy Syndrome, Sly Syndrome, Alpha Mannosidosis, Fucosidosis, Aspartylglucosaminuria, Sphingolipidoses, Krabbe Disease, Wolman's Disease, Niemann-Pick Disease Type B, Niemann-Pick Disease, Type C
Interventions: Stem Cell Transplantation, Cyclophosphamide, Campath-1H, Busulfan; Procedure · Drug
Lead sponsor: Masonic Cancer Center, University of Minnesota; Other
Eligibility: Up to 21 Years
Enrollment: 18 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008 – 2010
U.S. locations: 1
States / cities: Minneapolis, Minnesota

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Gene Therapy For Children With Variant Late Infantile Neuronal Ceroid Lipofuscinosis 6 (vLINCL6) Disease

Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-naïve Adult Male Patients With Fabry Disease

A Prospective Clinical Study of Phenylketonuria (PKU)

Effect of Warfarin in the Treatment of Metachromatic Leukodystrophy

Study of SPR001 in Adults With Classic Congenital Adrenal Hyperplasia

NORTHERA (DROXIDOPA) for Dysautonomia in Adult Survivors of Menkes Disease and Occipital Horn Syndrome

Clinical Study for Treatment-naïve IOPD Babies to Evaluate Efficacy and Safety of ERT With Avalglucosidase Alfa

Single Daily Dosage of Trientine for Maintenance Treatment for Wilson Disease

Demographic, Metabolic, and Genomic Description of Neonates With Severe Hyperbilirubinemia

Study for the Treatment for CLN7 Disease

The Safety and Effectiveness of Ganciclovir Plus Interferon Beta in Preventing the Return of Cytomegalovirus (CMV) of the Eyes in Patients With AIDS

GM1 and GM2 Gangliosidosis PROspective Neurological Disease TrajectOry Study (PRONTO)

Open-Label Study of Efficacy and Safety of Recombinant Human N-acetylgalactosamine 4-sulfatase in Patients With MPS VI

Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls

rAAV-Olig001-ASPA Gene Therapy for Treatment of Children With Typical Canavan Disease

Avalglucosidase Alfa Pregnancy Study

Cardiac Structure and Function in MPS

Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network

Congenital Adrenal Hyperplasia: Calcium Channels as Therapeutic Targets

Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of Taurine

Clinical Trial in Patients With Barth Syndrome- 4TAZPower

To Evaluate the Safety of Long-term Use of HPN-100 in the Management of Urea Cycle Disorders (UCDs)

Metyrapone for Mild Autonomous Cortisol Secretion (MACS)

Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism