Search | Clinical Trials Finder

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ClinicalTrials.gov public records Last synced Nov 5, 2026, 9:10 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 913–936 of 1,513 matching trials from the live ClinicalTrials.gov search.

Filters: Condition: Inborn Errors of Metabolism Disorders Clear all

Conditions: Mucopolysaccharidosis II
Interventions: JR-141, Idursulfase, JR-141 or Idursulfase; Drug
Lead sponsor: JCR Pharmaceuticals Co., Ltd.; Industry
Eligibility: Not listed
Enrollment: 86 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2027
U.S. locations: 7
States / cities: Phoenix, Arizona • Oakland, California • Chicago, Illinois + 4 more

Conditions: N-acetylglutamate Synthase (NAGS) Deficiency
Interventions: Not listed
Lead sponsor: Nicholas Ah Mew; Other
Eligibility: Not listed
Enrollment: 30 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2027
U.S. locations: 3
States / cities: Washington D.C., District of Columbia • Boston, Massachusetts • New York, New York

Conditions: Familial Hypercholesterolemia
Interventions: Evolocumab; Drug
Lead sponsor: Columbia University; Other
Eligibility: 18 Years and older
Enrollment: 4 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2020
U.S. locations: 1
States / cities: New York, New York

Conditions: Gaucher Disease, Type 1
Interventions: VPRIV®; Biological
Lead sponsor: Shire; Industry
Eligibility: 2 Years and older
Enrollment: 95 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008 – 2012
U.S. locations: 10
States / cities: Los Angeles, California • Oakland, California • Atlanta, Georgia + 7 more

Conditions: Homozygous Familial Hypercholesterolemia
Interventions: ARO-ANG 3 Injection; Drug
Lead sponsor: Arrowhead Pharmaceuticals; Industry
Eligibility: 16 Years and older
Enrollment: 18 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2025
U.S. locations: 2
States / cities: Mount Sinai, New York • Cincinnati, Ohio

Conditions: Mucolipidosis Type IV
Interventions: Not listed
Lead sponsor: Massachusetts General Hospital; Other
Eligibility: Not listed
Enrollment: 50 participants
Timeline: 2023 – 2028
U.S. locations: 1
States / cities: Boston, Massachusetts

Conditions: Familial Hypercholesterolemia
Interventions: Genetic testing; Other
Lead sponsor: University of Pennsylvania; Other
Eligibility: 18 Years and older
Enrollment: 378 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2017 – 2018
U.S. locations: 2
States / cities: Lancaster, Pennsylvania • Philadelphia, Pennsylvania

Conditions: 21-hydroxylase Deficiency
Interventions: Hydrocortisone withdrawal; Procedure
Lead sponsor: Maria I. New; Other
Eligibility: 18 Years to 50 Years
Enrollment: 99 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2007 – 2009
U.S. locations: 2
States / cities: New York, New York • Dallas, Texas

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: Cystinosis
Interventions: Cystagon® (Cysteamine Bitartrate), Cysteamine Bitartrate Delayed-release Capsules (RP103); Drug
Lead sponsor: Amgen; Industry
Eligibility: 6 Years and older
Enrollment: 43 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2011
U.S. locations: 3
States / cities: Stanford, California • Atlanta, Georgia • Chicago, Illinois

Conditions: MPS IV A, Mucopolysaccharidosis IVA, Morquio A Syndrome
Interventions: Not listed
Lead sponsor: BioMarin Pharmaceutical; Industry
Eligibility: Not listed
Enrollment: 353 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008 – 2014
U.S. locations: 2
States / cities: Oakland, California • Chicago, Illinois

Conditions: Transthyretin Amyloidosis (ATTR) With Cardiomyopathy
Interventions: NTLA-2001, Placebo; Biological · Drug
Lead sponsor: Intellia Therapeutics; Industry
Eligibility: 18 Years to 90 Years
Enrollment: 1,200 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2028
U.S. locations: 39
States / cities: Tucson, Arizona • Los Angeles, California • Palo Alto, California + 30 more

Conditions: Developmental Bone Disease, Dwarfism, Skeletal Dysplasias
Interventions: Not listed
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Eligibility: Not listed
Enrollment: 600 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1998 – 2001
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Late Infantile Neuronal Ceroid Lipofuscinosis, Batten Disease
Interventions: Group 1; Other
Lead sponsor: Weill Medical College of Cornell University; Other
Eligibility: 2 Years to 8 Years
Enrollment: 32 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2011 – 2015
U.S. locations: 1
States / cities: New York, New York

Conditions: Gout, Food-drug Interaction
Interventions: ABP-671; Drug
Lead sponsor: Atom Therapeutics Co., Ltd; Industry
Eligibility: 18 Years to 60 Years
Enrollment: 12 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2020
U.S. locations: 1
States / cities: Baltimore, Maryland

Conditions: Pompe Disease (Late-onset)
Interventions: zocaglusagene nuzaparvovec; Genetic
Lead sponsor: Astellas Gene Therapies; Industry
Eligibility: 18 Years to 80 Years
Enrollment: 11 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2035
U.S. locations: 3
States / cities: Orange, California • Palo Alto, California • Salt Lake City, Utah

Conditions: Thrombocytopenia, Metachromatic Leukodystrophy, Fanconi's Anemia, Thalassemia Major, Pure Red-Cell Aplasia, Inborn Errors of Metabolism
Interventions: Stem Cell Transplantation; Procedure
Lead sponsor: National Center for Research Resources (NCRR); NIH
Eligibility: 0 Years to 17 Years
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 1995
U.S. locations: 1
States / cities: Los Angeles, California

Conditions: Cystinosis
Interventions: Cysteamine Bitartrate Delayed-release Capsules; Drug
Lead sponsor: Amgen; Industry
Eligibility: 1 Year and older
Enrollment: 60 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2017
U.S. locations: 5
States / cities: San Francisco, California • Stanford, California • Atlanta, Georgia + 2 more

Conditions: Adrenal Hyperplasia, Congenital
Interventions: dexamethasone, Hydrocortisone; Drug
Lead sponsor: Boston Children's Hospital; Other
Eligibility: 2 Years to 9 Years
Enrollment: 5 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008 – 2009
U.S. locations: 1
States / cities: Boston, Massachusetts

Conditions: Pseudohypoparathyroidism Type 1A, Albright Hereditary Osteodystrophy, Pseudopseudohypoparathyroidism
Interventions: Neurocognitive and psychosocial testing; Behavioral
Lead sponsor: Connecticut Children's Medical Center; Other
Eligibility: 2 Months to 89 Years
Enrollment: 600 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2003 – 2030
U.S. locations: 1
States / cities: Hartford, Connecticut

Conditions: Niemann-Pick Disease, Type C
Interventions: Not listed
Lead sponsor: Mayo Clinic; Other
Eligibility: 2 Years to 99 Years
Enrollment: 70 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2014
U.S. locations: 1
States / cities: Rochester, Minnesota

Conditions: Propionic Acidemia, Methylmalonic Acidemia
Interventions: N-carbamylglutamate, Standard of Care; Drug · Other
Lead sponsor: Mendel Tuchman; Other
Eligibility: 1 Hour to 4 Weeks
Enrollment: 1 participant
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2015
U.S. locations: 7
States / cities: Los Angeles, California • Palo Alto, California • Aurora, Colorado + 4 more

Conditions: Cytomegalovirus Retinitis, HIV Infections
Interventions: Ganciclovir; Drug
Lead sponsor: National Institute of Allergy and Infectious Diseases (NIAID); NIH
Eligibility: 13 Years to 60 Years
Enrollment: 48 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Ends 1995
U.S. locations: 5
States / cities: San Diego, California • San Francisco, California • New York, New York

Conditions: Lactose Intolerance
Interventions: Raw Milk, Pasteurized Milk, Non-dairy milk; Behavioral
Lead sponsor: Stanford University; Other
Eligibility: 18 Years and older
Enrollment: 16 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2010
U.S. locations: 1
States / cities: Stanford, California

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A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II (STARLIGHT)

Orphan Europe Carbaglu® Surveillance Protocol

Impact of LDL-cholesterol Lowering on Platelet Activation

An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease

Study of ARO-ANG3 in Participants With Homozygous Familial Hypercholesterolemia (HOFH)

Mucolipidosis Type IV Natural History Study

IN-TANDEM Familial Hypercholesterolemia Pilot Study

Examining Genetic Differences Among People With 21-Hydroxylase Deficiency

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

Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinosis

A Clinical Assessment Study of Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome)

MAGNITUDE: A Phase 3 Study of NTLA-2001 in Participants With Transthyretin Amyloidosis With Cardiomyopathy (ATTR-CM)

Study of Skeletal Disorders and Short Stature

Collection of Cerebrospinal Fluid in Healthy Children

Study to Investigate the Effects of Food on Relative Bioavailability of ABP-671 Tablets in Healthy Subjects

Gene Transfer Study in Patients With Late Onset Pompe Disease

Stem Cell Transplantation (SCT) for Genetic Diseases

Long-Term Safety Follow-up Study of Cysteamine Bitartrate Delayed-release Capsules (RP103)

Dexamethasone Treatment of Congenital Adrenal Hyperplasia

Albright Hereditary Osteodystrophy: Natural History, Growth, and Cognitive/Behavioral Assessments

Longitudinal Study of Cognition With Niemann-Pick Disease, Type C

Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia

A Phase I Pharmacokinetic and Tolerance Study of 28-Day Regimens of Oral Ganciclovir

Effects of Raw Versus Other Milk Sources on Lactose Digestion