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, 9:46 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 1225–1248 of 1,513 matching trials from the live ClinicalTrials.gov search.

Filters: Condition: Inborn Errors of Metabolism Disorders Clear all

Conditions: Gaucher's Disease
Interventions: CEREDASE™; Drug
Lead sponsor: National Institute of Neurological Disorders and Stroke (NINDS); NIH
Eligibility: Not listed
Enrollment: 100 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1993 – 2000
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Oculocutaneous Albinism
Interventions: Not listed
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Eligibility: 1 Year to 80 Years
Enrollment: 206 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008 – 2019
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Methylmalonic Acidemia
Interventions: mRNA-3705; Drug
Lead sponsor: ModernaTX, Inc.; Industry
Eligibility: 1 Year and older
Enrollment: 56 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2034
U.S. locations: 3
States / cities: Los Angeles, California • Palo Alto, California • San Diego, California

Conditions: Gaucher Disease
Interventions: GA-GCB (velaglucerase alfa); Biological
Lead sponsor: Shire; Industry
Eligibility: 2 Years and older
Enrollment: 40 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2007 – 2009
U.S. locations: 11
States / cities: Los Angeles, California • Oakland, California • Decatur, Georgia + 8 more

Conditions: ESRD, Fabry Disease, Rare Diseases, Kidney Diseases, End Stage Renal Disease, Genetic Diseases, X-Linked
Interventions: Not listed
Lead sponsor: Massachusetts General Hospital; Other
Eligibility: 18 Years to 65 Years
Enrollment: 338 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2019
U.S. locations: 1
States / cities: Boston, Massachusetts

Conditions: Niemann-Pick Disease, Type C1
Interventions: VTS-270; Drug
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: 3 Years to 60 Years
Enrollment: 2 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2021
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Hypophosphatasia
Interventions: asfotase alfa; Biological
Lead sponsor: Alexion Pharmaceuticals, Inc.; Industry
Eligibility: 24 Weeks to 42 Months
Enrollment: 10 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2016
U.S. locations: 5
States / cities: Wilmington, Delaware • Springfield, Missouri • Omaha, Nebraska + 2 more

Conditions: Niemann-Pick Diseases
Interventions: Not listed
Lead sponsor: National Niemann-Pick Disease Foundation; Other
Eligibility: 18 Years and older
Enrollment: 76 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020
U.S. locations: 1
States / cities: New York, New York

Conditions: Lesch-Nyhan Disease, Self-injurious Behavior
Interventions: Ecopipam, Placebo; Drug
Lead sponsor: Emalex Biosciences Inc.; Industry
Eligibility: 6 Years to 70 Years
Enrollment: 9 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2014
U.S. locations: 1
States / cities: Atlanta, Georgia

Conditions: Smith-Lemli-Opitz Syndrome
Interventions: Simvastatin Susp., OraPlus; Drug
Lead sponsor: Forbes Porter, M.D.; NIH
Eligibility: 4 Years to 18 Years
Enrollment: 23 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2003 – 2010
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Lysosomal Storage Disease, Cholesterol Metabolism
Interventions: Not listed
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: 1 Day to 99 Years
Enrollment: 344 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2002 – 2023
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Mucopolysaccharidosis VI
Interventions: N-acetylgalactosamine 4-sulfatase, Placebo/rhASB; Drug
Lead sponsor: BioMarin Pharmaceutical; Industry
Eligibility: 7 Years and older
Enrollment: 39 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2004 – 2006
U.S. locations: 1
States / cities: Novato, California

Conditions: Tay-Sachs Disease, Sandhoff Disease
Interventions: venglustat GZ402671, placebo; Drug
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: 2 Years and older
Enrollment: 75 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2020 – 2024
U.S. locations: 5
States / cities: Los Angeles, California • Atlanta, Georgia • Bethesda, Maryland + 2 more

Conditions: Hypercholesterolemia, Familial, Hyperlipidemia
Interventions: torcetrapib/atorvastatin, atorvastatin; Drug
Lead sponsor: Pfizer; Industry
Eligibility: 18 Years and older
Enrollment: 400 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2005 – 2006
U.S. locations: 14
States / cities: San Diego, California • Washington D.C., District of Columbia • Lutz, Florida + 11 more

Conditions: Urea Cycle Disorder, Organic Acidemia, Maple Syrup Urine Disease, Glutaric Acidemia I, Fatty Acid Oxidation Disorder, Hypoxic-Ischemic Encephalopathy
Interventions: Not listed
Lead sponsor: Children's National Research Institute; Other
Eligibility: 7 Years to 18 Years
Enrollment: 24 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2027
U.S. locations: 1
States / cities: Washington D.C., District of Columbia

Conditions: MELAS or m.3243 A>G Mitochondrial DNA Mutation Carrier
Interventions: Not listed
Lead sponsor: Columbia University; Other
Eligibility: 4 Years and older
Enrollment: 300 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2004 – 2026
U.S. locations: 1
States / cities: New York, New York

Conditions: Mucopolysaccharidosis II
Interventions: tividenofusp alfa; Drug
Lead sponsor: Denali Therapeutics Inc.; Industry
Eligibility: Up to 18 Years
Enrollment: 99 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2027
U.S. locations: 8
States / cities: Oakland, California • Chicago, Illinois • Hackensack, New Jersey + 5 more

Conditions: Amyloidosis, Amyloid Cardiomyopathy, Transthyretin Amyloidosis, Cardiomyopathies, Heart Diseases, Polyneuropathies
Interventions: Acoramidis, Placebo oral tablet; Drug
Lead sponsor: Eidos Therapeutics, a BridgeBio company; Industry
Eligibility: 18 Years to 75 Years
Enrollment: 587 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2032
U.S. locations: 40
States / cities: La Jolla, California • Los Angeles, California • San Francisco, California + 31 more

Conditions: Lysosomal Acid Lipase Deficiency, Cholesterol Ester Storage Disease
Interventions: enzyme analysis; Other
Lead sponsor: Massachusetts General Hospital; Other
Eligibility: Not listed
Enrollment: 60 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 2012
U.S. locations: 1
States / cities: Boston, Massachusetts

Conditions: To Determine Bioequivalence Under Fed Conditions
Interventions: Lisinopril; Drug
Lead sponsor: Par Pharmaceutical, Inc.; Industry
Eligibility: 18 Years to 50 Years · Male only
Enrollment: 18 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 1999
U.S. locations: 1
States / cities: Baltimore, Maryland

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

Conditions: Idiopathic Pulmonary Fibrosis
Interventions: No intervention; Other
Lead sponsor: 23andMe, Inc.; Industry
Eligibility: 18 Years and older
Enrollment: 690 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2023
U.S. locations: 1
States / cities: Sunnyvale, California

Conditions: G6PD Deficiency
Interventions: SD Biosensor G6PD Analyzer, Pointe Scientific Test Kit, HemoCue System; Diagnostic Test
Lead sponsor: PATH; Other
Eligibility: 18 Years to 65 Years
Enrollment: 250 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2019
U.S. locations: 1
States / cities: Seattle, Washington

Conditions: Phenylketonurias
Interventions: Pegvaliase-Pqpz; Drug
Lead sponsor: University of Missouri-Columbia; Other
Eligibility: 18 Years to 55 Years
Enrollment: 6 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2025
U.S. locations: 2
States / cities: Boston, Massachusetts • Columbia, Missouri

Search by objective public record fields.

Bone Response to Enzyme Replacement in Gaucher's Disease

Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism

An Extension Study to Evaluate the Long-Term Safety and Clinical Activity of mRNA-3705 in Participants Previously Enrolled in Other Clinical Studies of mRNA-3705

Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase

Kidney Information Network for Disease Research and Education

Combined Intrathecal and Intravenous VTS-270 Therapy for Liver and Neurological Disease Associated With Niemann-Pick Disease, Type C1

Extension Study of Protocol ENB-002-08 - Study of Asfotase Alfa in Infants and Young Children With Hypophosphatasia (HPP)

Health Insurance Literacy and Challenges in Accessing Health Services in Niemann-Pick

Ecopipam Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan Disease

Simvastatin Therapy in Smith-Lemli-Opitz Syndrome

Study of Inborn Errors of Cholesterol Synthesis and Related Disorders

Study of rhASB in Patients With Mucopolysaccharidosis VI

A Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, and Safety of Venglustat in Late-onset GM2

Study To Evaluate The Safety And Efficacy Of Torcetrapib/Atorvastatin In Subjects With Familial Hypercholerolemia

Systemic Biomarkers of Brain Injury From Hyperammonemia

Natural History Study - Mitochondrial Disease

An Extension Study of the Long-Term Safety, Tolerability, and Efficacy of Tividenofusp Alfa (DNL310) in Participants With Mucopolysaccharidosis Type II (MPS II) From Study DNLI-E-0002 or Study DNLI-E-0007

Acoramidis Transthyretin Amyloidosis Prevention Trial in the Young (ACT-EARLY) Study in Asymptomatic Carriers of a Pathogenic TTR Variant

Identification of Undiagnosed Lysosomal Acid Lipase Deficiency

A Comparative Bioavailability Study of Lisinopril Tablets, 40 mg - Effect of Food Study

Evaluation of PKU Sphere

23andMe IPF Research Study

Validation of Diagnostics to Identify Glucose-6-phosphate Dehydrogenase Activity in the US

Preliminary Study of Brain Effects of Palynziq-Related Changes in Phenylalanine in Individuals With PKU