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 15, 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 1201–1224 of 1,513 matching trials from the live ClinicalTrials.gov search.

Filters: Condition: Inborn Errors of Metabolism Disorders Clear all

Conditions: Parkinson Disease, Gaucher Disease, Healthy, GBA Gene Mutation
Interventions: Biological Sample Collection; Other
Lead sponsor: New York Stem Cell Foundation Research Institute; Other
Eligibility: 18 Years and older
Enrollment: 60 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2022 – 2025
U.S. locations: 1
States / cities: New York, New York

Conditions: Sanfilippo Syndrome, MPS3
Interventions: Not listed
Lead sponsor: Lysosomal and Rare Disorders Research and Treatment Center, Inc.; Other
Eligibility: 5 Years to 99 Years
Enrollment: 6 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2024
U.S. locations: 1
States / cities: Fairfax, Virginia

Conditions: Lesch-Nyhan Disease
Interventions: Ecopipam; Drug
Lead sponsor: Psyadon Pharma; Industry
Eligibility: 6 Years to 65 Years · Male only
Enrollment: 5 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2011
U.S. locations: 2
States / cities: San Diego, California • Atlanta, Georgia

Conditions: Wilson Disease
Interventions: Standard of Care Medications; Drug
Lead sponsor: Alexion Pharmaceuticals, Inc.; Industry
Eligibility: 18 Years and older
Enrollment: 64 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2019
U.S. locations: 5
States / cities: New Haven, Connecticut • Chicago, Illinois • Ann Arbor, Michigan + 2 more

Conditions: Adrenoleukodystrophy, Restless Legs Syndrome
Interventions: Pramipexole, Placebo; Drug
Lead sponsor: Massachusetts General Hospital; Other
Eligibility: 18 Years to 75 Years · Female only
Enrollment: 24 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2026
U.S. locations: 1
States / cities: Boston, Massachusetts

Conditions: X-Linked Adrenoleukodystrophy (X-ALD), Cerebral Adrenoleukodystrophy (CALD), Adrenoleukodystrophy (ALD)
Interventions: Allo-HSCT; Genetic
Lead sponsor: Genetix Biotherapeutics Inc.; Industry
Eligibility: Up to 17 Years · Male only
Enrollment: 59 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2019
U.S. locations: 6
States / cities: Los Angeles, California • Palo Alto, California • Boston, Massachusetts + 3 more

Conditions: PolG, Primary Mitochondrial Myopathy
Interventions: Not listed
Lead sponsor: The Emmes Company, LLC; Industry
Eligibility: 16 Years and older
Enrollment: 28 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2024
U.S. locations: 1
States / cities: Kingston, Massachusetts

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: Joint Damage
Interventions: Febuxostat, Placebo for Febuxostat; Drug
Lead sponsor: Takeda; Industry
Eligibility: 18 Years and older
Enrollment: 314 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2013
U.S. locations: 56
States / cities: Mesa, Arizona • Tucson, Arizona • Burbank, California + 53 more

Conditions: Familial Hypercholesterolemia
Interventions: Cascade testing, Standard of Care; Other
Lead sponsor: Mayo Clinic; Other
Eligibility: 1 Year and older
Enrollment: 480 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2029
U.S. locations: 1
States / cities: Rochester, Minnesota

Conditions: Hurler Syndrome, Fanconi Anemia, Glanzmann Thrombasthenia, Wiskott-Aldrich Syndrome, Chronic Granulomatous Disease, Severe Congenital Neutropenia, Leukocyte Adhesion Deficiency, Shwachman-Diamond Syndrome, Diamond-Blackfan Anemia, Dyskeratosis-congenita, Chediak-Higashi Syndrome, Severe Aplastic Anemia, Thalassemia Major, Hemophagocytic Lymphohistiocytosis, Sickle Cell Disease
Interventions: Abatacept; Drug
Lead sponsor: Emory University; Other
Eligibility: Up to 21 Years
Enrollment: 10 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2019
U.S. locations: 1
States / cities: Atlanta, Georgia

Conditions: Phenylketonurias
Interventions: sapropterin dihydrochloride, 6R-BH4, tetrahydrobiopterin; Drug
Lead sponsor: BioMarin Pharmaceutical; Industry
Eligibility: 8 Years and older
Enrollment: 89 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2005 – 2006
U.S. locations: 13
States / cities: Los Angeles, California • Oakland, California • New Haven, Connecticut + 10 more

Conditions: MDS, Anemia, Aplastic, Inborn Errors of Metabolism, Congenital Marrow Failure, Congenital Immunodeficiency Syndrome
Interventions: ALDHbr Umbilical Cord Blood Cells; Biological
Lead sponsor: Joanne Kurtzberg, MD; Other
Eligibility: Up to 55 Years
Enrollment: 37 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2005 – 2012
U.S. locations: 1
States / cities: Durham, North Carolina

Conditions: Urea Cycle Disorder, Inborn Errors of Metabolism
Interventions: UCD Anamix Infant; Other
Lead sponsor: Nutricia Research; Industry
Eligibility: Up to 30 Days
Enrollment: 3 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2019
U.S. locations: 1
States / cities: Philadelphia, Pennsylvania

Conditions: Hypercholesterolemia, Familial Hypercholesterolemia
Interventions: Enclitide Chloride, Placebo; Drug
Lead sponsor: Merck Sharp & Dohme LLC; Industry
Eligibility: 18 Years to 80 Years
Enrollment: 381 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022
U.S. locations: 20
States / cities: Beverly Hills, California • Sacramento, California • Santa Ana, California + 17 more

Conditions: Gaucher Disease
Interventions: eliglustat; Drug
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: 18 Years to 79 Years
Enrollment: 24 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2015 – 2016
U.S. locations: 2
States / cities: Miami, Florida • Knoxville, Tennessee

Conditions: Schizophrenia, Psychotic Disorders
Interventions: Glycine administration; Dietary Supplement
Lead sponsor: Mclean Hospital; Other
Eligibility: 18 Years to 55 Years
Enrollment: 21 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2010 – 2013
U.S. locations: 1
States / cities: Belmont, Massachusetts

Conditions: Hypophosphatasia (HPP)
Interventions: Not listed
Lead sponsor: Alexion Pharmaceuticals, Inc.; Industry
Eligibility: Not listed
Enrollment: 48 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2014
U.S. locations: 5
States / cities: Los Angeles, California • Indianapolis, Indiana • St Louis, Missouri + 2 more

Conditions: MELAS Syndrome
Interventions: Fluzone®; Biological
Lead sponsor: Stanford University; Other
Eligibility: 13 Years to 65 Years
Enrollment: 22 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2010 – 2012
U.S. locations: 1
States / cities: Stanford, California

Conditions: Gout
Interventions: placebo, pegloticase; Other · Biological
Lead sponsor: Savient Pharmaceuticals; Industry
Eligibility: 18 Years and older
Enrollment: 225 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2006 – 2007
U.S. locations: 50
States / cities: Birmingham, Alabama • Tucson, Arizona • Jonesboro, Arkansas + 45 more

Conditions: X-linked Hypophosphatemia (XLH)
Interventions: No treatment given; Other
Lead sponsor: Novo Nordisk A/S; Industry
Eligibility: 18 Years to 64 Years
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2030
U.S. locations: 4
States / cities: New Haven, Connecticut • Indianapolis, Indiana • Columbus, Ohio + 1 more

Conditions: Cystinosis
Interventions: Safety and Efficacy Assessments; Other
Lead sponsor: Stephanie Cherqui; Other
Eligibility: 14 Years to 50 Years
Enrollment: 50 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2036
U.S. locations: 1
States / cities: La Jolla, California

Conditions: Pompe Disease, Glycogen Storage Disease Type II (GSD II), Acid Maltase Deficiency
Interventions: GZ402666; Drug
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: 18 Years and older
Enrollment: 24 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2015
U.S. locations: 7
States / cities: Phoenix, Arizona • Jacksonville, Florida • Kansas City, Kansas + 4 more

Conditions: MPS III B
Interventions: AX 250; Drug
Lead sponsor: Allievex Corporation; Industry
Eligibility: Not listed
Enrollment: 15 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2027
U.S. locations: 2
States / cities: Oakland, California • Pittsburgh, Pennsylvania

Search by objective public record fields.

Drug Discovery for Parkinson's With Mutations in the GBA Gene

The Natural History Study of Patients With Sanfilippo Disease(s) (MPS3)

Safety and Tolerability of the D1 Dopamine Receptor Antagonist Ecopipam in Patients With Lesch-Nyhan Disease

The Assessment of Copper Parameters in Wilson Disease Participants on Standard of Care Treatment

Treating Leg Symptoms in Women With X-linked Adrenoleukodystrophy

Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD)

Mitochondrial Video Assessment Source Material Study

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

Effect of Febuxostat on Joint Damage in Hyperuricemic Subjects With Early Gout

Cascade Testing In Identifying At-risk Family Members Of Individuals With Familial Hypercholesterolemia (FH) In PCP

Bone Marrow Transplant With Abatacept for Non-Malignant Diseases

Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels

Unrelated Umbilical Cord Blood Transplantation Augmented With ALDHbr Umbilical Cord Blood Cells

A Collection of Case Studies in Infants With UCD to Evaluate Infant Growth and the Safety of a New Medical Food for UCD

A Study of the Efficacy and Safety of Enclitide Chloride (MK-0616 Oral PCSK9 Inhibitor) in Adults With Hypercholesterolemia (MK-0616-008)

A Study of the Effects of Hepatic Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate

Acute Glycine Pharmacodynamic Study

A Retrospective Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP)

Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS)

Safety and Efficacy Study of PEG-uricase in the Treatment of Hyperuricemic Patients With Symptomatic Gout

Treatment Patterns, Biochemical Profiles and Clinical Outcomes in Adults With X-Linked Hypophosphatemia

A Long-Term Follow-Up Study of Participants With Cystinosis Who Previously Received CTNS-RD-04

Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients.

Safety, Tolerability and Efficacy of ICV AX 250 Treatment in MPS IIIB -OLE