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, 2:35 PM 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 1321–1344 of 1,513 matching trials from the live ClinicalTrials.gov search.

Filters: Condition: Inborn Errors of Metabolism Disorders Clear all

Conditions: Primary Hyperoxaluria Type 1, Primary Hyperoxaluria
Interventions: Lumasiran; Drug
Lead sponsor: Alnylam Pharmaceuticals; Industry
Eligibility: Not listed
Enrollment: 21 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2025
U.S. locations: 2
States / cities: Rochester, Minnesota • Houston, Texas

Conditions: Tophaceous Gout
Interventions: Rituximab; Drug
Lead sponsor: University of California, Los Angeles; Other
Eligibility: 18 Years and older
Enrollment: 2 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024
U.S. locations: 1
States / cities: Los Angeles, California

Conditions: MLD, Krabbe Disease, ALD, MPS I, MPS II, MPS III, Vanishing White Matter Disease, GM3 Gangliosidosis, PKAN, Tay-Sachs Disease, NP Deficiency, Osteopetrosis, Alpha-Mannosidosis, Sandhoff Disease, Niemann-Pick Diseases, MPS IV, Gaucher Disease, GAN, GM1 Gangliosidoses, Morquio Disease, S-Adenosylhomocysteine Hydrolase Deficiency, Batten Disease, Pelizaeus-Merzbacher Disease, Leukodystrophy, Lysosomal Storage Diseases, Purine Nucleoside Phosphorylase Deficiency, Multiple Sulfatase Deficiency Disease
Interventions: Palliative Care, Hematopoetic Stem Cell Transplantation; Other · Biological
Lead sponsor: University of Pittsburgh; Other
Eligibility: Not listed
Enrollment: 1,500 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2035
U.S. locations: 1
States / cities: Pittsburgh, Pennsylvania

Conditions: Homozygous Familial Hypercholesterolemia (HoFH)
Interventions: Single intravenous (IV) dose of human Low Density Lipoprotein Receptor (LDLR) Gene Therapy; Drug
Lead sponsor: REGENXBIO Inc.; Industry
Eligibility: 18 Years and older
Enrollment: 8 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2025
U.S. locations: 4
States / cities: Columbus, Ohio • Portland, Oregon • Philadelphia, Pennsylvania + 1 more

Conditions: Fabry's Disease
Interventions: Smartpill, Endoscopic Mucosal Resection; Device · Procedure
Lead sponsor: Massachusetts General Hospital; Other
Eligibility: 18 Years to 70 Years
Enrollment: 48 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2022
U.S. locations: 1
States / cities: Boston, Massachusetts

Conditions: Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis, Inherited Bone Marrow Failure Syndrome, Hemoglobinopathies, Metabolic Disorders
Interventions: BPX-501 and Rimiducid; Biological
Lead sponsor: Bellicum Pharmaceuticals; Industry
Eligibility: 4 Months to 55 Years
Enrollment: 1 participant
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2018
U.S. locations: 1
States / cities: Seattle, Washington

Conditions: Apparent Mineralocorticoid Excess (AME)
Interventions: Glycyrrhetic Acid, Placebo; Drug
Lead sponsor: Brigham and Women's Hospital; Other
Eligibility: 18 Years to 85 Years
Enrollment: 15 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2002 – 2009
U.S. locations: 1
States / cities: Boston, Massachusetts

Conditions: Wilson Disease
Interventions: ALXN1840, Celecoxib; Drug
Lead sponsor: Alexion Pharmaceuticals, Inc.; Industry
Eligibility: 18 Years to 50 Years
Enrollment: 36 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2020
U.S. locations: 1
States / cities: Austin, Texas

Conditions: Fabry Disease
Interventions: agalsidase alfa; Biological
Lead sponsor: Shire; Industry
Eligibility: Not listed
U.S. locations: 25
States / cities: Tucson, Arizona • La Jolla, California • Los Angeles, California + 21 more

Conditions: Gout, Gout Acute
Interventions: Allopurinol, Placebo; Drug
Lead sponsor: White River Junction Veterans Affairs Medical Center; Federal
Eligibility: 18 Years and older · Male only
Enrollment: 57 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1998 – 2009
U.S. locations: 1
States / cities: White River Junction, Vermont

Conditions: Gaucher Disease, Type 1
Interventions: Eliglustat tartrate, Imiglucerase; Drug
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: 18 Years and older
Enrollment: 160 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2015
U.S. locations: 17
States / cities: Beverly Hills, California • San Francisco, California • Aurora, Colorado + 13 more

Conditions: Malignant Neoplasm
Interventions: ponatinib hydrochloride, laboratory biomarker analysis; Drug · Other
Lead sponsor: Sameek Roychowdhury; Other
Eligibility: 18 Years and older
Enrollment: 22 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2022
U.S. locations: 2
States / cities: Ann Arbor, Michigan • Columbus, Ohio

Conditions: Arterial Calcification Due to Deficiency of CD73
Interventions: Not listed
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Eligibility: 1 Month to 115 Years
Enrollment: 4,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: Started 1978
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Healthy Volunteers
Interventions: Iberdomide; Drug
Lead sponsor: Bristol-Myers Squibb; Industry
Eligibility: 18 Years to 65 Years
Enrollment: 32 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2023
U.S. locations: 1
States / cities: Daytona Beach, Florida

Conditions: Gaucher Disease Type 1, Gaucher Disease Type 3
Interventions: venglustat (GZ402671), imiglucerase; Drug
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: 18 Years and older
Enrollment: 12 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017 – 2026
U.S. locations: 3
States / cities: New Haven, Connecticut • Dallas, Texas • Fairfax, Virginia

Conditions: Glycogen Storage Disease Type IA
Interventions: DTX401, Placebo, Oral prednisolone, Placebo for oral prednisolone; Genetic · Other · Drug
Lead sponsor: Ultragenyx Pharmaceutical Inc; Industry
Eligibility: 8 Years and older
Enrollment: 52 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2026
U.S. locations: 9
States / cities: Orange, California • Aurora, Colorado • Farmington, Connecticut + 6 more

Conditions: Argininosuccinic Aciduria, Argininosuccinate Lyase Deficiency, Urea Cycle Disorders
Interventions: Nitric oxide supplement, Placebo; Dietary Supplement
Lead sponsor: Baylor College of Medicine; Other
Eligibility: 8 Years to 64 Years
Enrollment: 12 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2018
U.S. locations: 1
States / cities: Houston, Texas

Conditions: Sphingomyelin Lipidosis
Interventions: GZ402665; Drug
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: Not listed
Enrollment: 25 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2023
U.S. locations: 1
States / cities: New York, New York

Conditions: Congenital Adrenal Hyperplasia
Interventions: ATR-101; Drug
Lead sponsor: Millendo Therapeutics, Inc.; Industry
Eligibility: 18 Years to 80 Years
Enrollment: 10 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2017
U.S. locations: 6
States / cities: Baltimore, Maryland • Bethesda, Maryland • Ann Arbor, Michigan + 3 more

Conditions: Mucopolysaccharidosis II
Interventions: AGT-182; Drug
Lead sponsor: ArmaGen, Inc; Industry
Eligibility: 18 Years and older · Male only
Enrollment: 6 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2017
U.S. locations: 3
States / cities: Oakland, California • Orange, California • Decatur, Georgia

Conditions: MPS I
Interventions: SB-318; Biological
Lead sponsor: Sangamo Therapeutics; Industry
Eligibility: 5 Years and older
Enrollment: 3 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017 – 2021
U.S. locations: 1
States / cities: Oakland, California

Conditions: BH4 Deficiency, Hyperphenylalaninemia
Interventions: PTC923; Drug
Lead sponsor: PTC Therapeutics; Industry
Eligibility: 12 Months and older
Enrollment: 8 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2020
U.S. locations: 4
States / cities: Minneapolis, Minnesota • Dallas, Texas • Salt Lake City, Utah + 1 more

Conditions: Phenylketonuria (PKU)
Interventions: Pegvaliase; Drug
Lead sponsor: BioMarin Pharmaceutical; Industry
Eligibility: Not listed
Enrollment: 450 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2033
U.S. locations: 12
States / cities: Aurora, Colorado • Atlanta, Georgia • Chicago, Illinois + 9 more

Conditions: AMN, AMN Gene Mutation, X-ALD
Interventions: Natural History Observation; Other
Lead sponsor: SwanBio Therapeutics, Inc.; Industry
Eligibility: 18 Years and older · Male only
Enrollment: 65 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2025
U.S. locations: 4
States / cities: Stanford, California • Boston, Massachusetts • New York, New York + 1 more

Search by objective public record fields.

A Study to Evaluate Lumasiran in Patients With Advanced Primary Hyperoxaluria Type 1

Recapturing Immune Tolerance to Pegloticase for the Management of Tophaceous Gout

Longitudinal Study of Neurodegenerative Disorders

A Long-term Follow-up Study to Evaluate the Safety and Efficacy of RGX-501

Evaluation of the Gastrointestinal Manifestation of Fabry's Disease

Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases

The Role of Mineralocorticoid Receptors in Vascular Function

Phase 1 Study of ALXN1840 on the Metabolism of a CYP2C9 Substrate in Healthy Participants.

Treatment Protocol of Replagal for Patients With Fabry Disease

Initiation of Allopurinol at First Medical Contact for Acute Attacks of Gout

A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE)

Ponatinib for Patients Whose Advanced Solid Tumor Cancer Has Activating Mutations Involving the Following Genes: FGFR1, FGFR2, FGFR3, FGFR4, RET, KIT.

Diagnosis and Treatment of Patients With Inborn Errors of Metabolism

A Study to Compare the Relative Bioavailability of Two Iberdomide (CC-220) Formulations and to Assess The Effect Of Food on the Drug Levels of Iberdomide in Healthy Adult Participants

Venglustat in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 With Venglustat Monotherapy Extension

A Study of Adeno-Associated Virus Serotype 8-Mediated Gene Transfer of Glucose-6-Phosphatase in Patients With Glycogen Storage Disease Type Ia (GSDIa)

Nitric Oxide Supplementation in Argininosuccinic Aciduria

A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency

A Study of ATR-101 for the Treatment of Congenital Adrenal Hyperplasia

Safety and Dose Ranging Study of Insulin Receptor MoAb-IDS Fusion Protein in Patients With Hunter Syndrome

Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-318 in Subjects With MPS I

A Study of PTC923 (CNSA-001) in Primary Tetrahydrobiopterin (BH4) Deficient Participants With Hyperphenylalaninemia

A Long-term, Post-marketing Safety Study of Palynziq in Patients With PKU (PALace)

Study of Disease Progression in Adults With Inherited Forms of Spastic Paraplegia