Search | Clinical Trials Finder

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ClinicalTrials.gov public records Last synced Nov 7, 2026, 10:40 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 1057–1080 of 1,513 matching trials from the live ClinicalTrials.gov search.

Filters: Condition: Inborn Errors of Metabolism Disorders Clear all

Conditions: Sickle Cell Disease, Thalassemia, Severe Congenital Neutropenia, Diamond-Blackfan Anemia, Shwachman-Diamond Syndrome
Interventions: Busulfan, Fludarabine, ATG, TLI, Busulfan, Cyclophosphamide, ATG, GCSF, Campath, Fludarabine, Cyclophosphamide, Total Body Irradiation, Stem cell infusion; Drug · Radiation · Procedure
Lead sponsor: Masonic Cancer Center, University of Minnesota; Other
Eligibility: Up to 50 Years
Enrollment: 22 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2002 – 2020
U.S. locations: 1
States / cities: Minneapolis, Minnesota

Conditions: Glycogen Storage Disease Type II (GSD-II), Pompe Disease (Late-onset), Glycogenesis 2 Acid Maltase Deficiency
Interventions: Not listed
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: Female only
Enrollment: 20 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2007 – 2034
U.S. locations: 15
States / cities: Phoenix, Arizona • Jacksonville, Florida • Atlanta, Georgia + 10 more

Conditions: Glycogen Storage Disease
Interventions: Medical Food - Glycosade; Dietary Supplement
Lead sponsor: Vitaflo International, Ltd; Industry
Eligibility: 2 Years to 75 Years
Enrollment: 61 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2020
U.S. locations: 1
States / cities: Hartford, Connecticut

Conditions: Fabry Disease
Interventions: This is a non-interventional study; Other
Lead sponsor: Amicus Therapeutics; Industry
Eligibility: 18 Years and older
Enrollment: 44 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023
U.S. locations: 1
States / cities: Eagan, Minnesota

Conditions: Wilson Disease
Interventions: Not listed
Lead sponsor: Prime Medicine, Inc.; Industry
Eligibility: 18 Years and older
Enrollment: 30 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2027
U.S. locations: 7
States / cities: Los Angeles, California • Sacramento, California • New Haven, Connecticut + 4 more

Conditions: Fabry Disease
Interventions: Replagal; Drug
Lead sponsor: National Institute of Neurological Disorders and Stroke (NINDS); NIH
Eligibility: Not listed
Enrollment: 25 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2003 – 2005
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Mucopolysaccharidosis Type I (MPS I), Hurler Syndrome, Hurler-Scheie Syndrome
Interventions: RGX-111; Genetic
Lead sponsor: REGENXBIO Inc.; Industry
Eligibility: 4 Months and older
Enrollment: 21 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2029
U.S. locations: 1
States / cities: Orange, California

Conditions: Glycogen Storage Disease Type II, Pompe Disease, Acid Maltase Deficiency Disease, Glycogenosis 2
Interventions: Myozyme; Biological
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: 6 Months to 36 Months
Enrollment: 20 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2003 – 2006
U.S. locations: 3
States / cities: Gainesville, Florida • Durham, North Carolina • Cincinnati, Ohio

Conditions: Porphyria
Interventions: Not listed
Lead sponsor: National Center for Research Resources (NCRR); NIH
Eligibility: 0 Years and older
Enrollment: 25 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 1992
U.S. locations: 1
States / cities: Galveston, Texas

Conditions: Cystinosis
Interventions: Cystagon®, RP103; Drug
Lead sponsor: Amgen; Industry
Eligibility: Not listed
Enrollment: 9 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009
U.S. locations: 1
States / cities: San Diego, California

Conditions: Congenital Adrenal Hyperplasia, Classic Congenital Adrenal Hyperplasia
Interventions: Atumelnant, Placebo; Drug
Lead sponsor: Crinetics Pharmaceuticals Inc.; Industry
Eligibility: 18 Years to 74 Years
Enrollment: 150 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2027
U.S. locations: 15
States / cities: Los Angeles, California • Aurora, Colorado • Gainesville, Florida + 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: X-linked Hypophosphatemia
Interventions: Burosumab Injection [Crysvita]; Drug
Lead sponsor: Yale University; Other
Eligibility: 18 Years to 65 Years
Enrollment: 10 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2022
U.S. locations: 1
States / cities: New Haven, Connecticut

Conditions: Hypophosphatasia
Interventions: Not listed
Lead sponsor: Duke University; Other
Eligibility: Not listed
Enrollment: 200 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2028
U.S. locations: 1
States / cities: Durham, North Carolina

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: TTR-mediated Amyloidosis, Amyloidosis, Hereditary, Amyloid Neuropathies, Familial, Familial Amyloid Polyneuropathies, Amyloid Neuropathies, Amyloidosis, Hereditary, Transthyretin-Related
Interventions: patisiran (ALN-TTR02), Sterile Normal Saline (0.9% NaCl); Drug
Lead sponsor: Alnylam Pharmaceuticals; Industry
Eligibility: 18 Years to 85 Years
Enrollment: 225 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2017
U.S. locations: 13
States / cities: La Mesa, California • Orange, California • Denver, Colorado + 9 more

Conditions: Healthy
Interventions: ALXN1840, Placebo, Moxifloxacin; Drug
Lead sponsor: Alexion Pharmaceuticals, Inc.; Industry
Eligibility: 18 Years to 50 Years
Enrollment: 57 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2020 – 2021
U.S. locations: 1
States / cities: Austin, Texas

Conditions: Phenylketonuria, Maternal
Interventions: Pegvaliase; Drug
Lead sponsor: BioMarin Pharmaceutical; Industry
Eligibility: Female only
Enrollment: 50 participants
Timeline: 2022 – 2032
U.S. locations: 1
States / cities: Wilmington, North Carolina

Conditions: Adrenoleukodystrophy
Interventions: Leriglitazone, Placebo; Drug
Lead sponsor: Minoryx Therapeutics, S.L.; Industry
Eligibility: 18 Years to 65 Years · Male only
Enrollment: 116 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017 – 2025
U.S. locations: 3
States / cities: Stanford, California • Baltimore, Maryland • Boston, Massachusetts

Conditions: Glucosephosphate Dehydrogenase Deficiency, Hyperbilirubinemia, Hemolytic Disease of Newborn
Interventions: tin mesoporphyrin; Drug
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: 0 Years to 24 Hours
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 1999
U.S. locations: 2
States / cities: Boston, Massachusetts • New York, New York

Conditions: Fabry's Disease
Interventions: AGALSIDASE BETA (GZ419828), Acetaminophen, Diphenhydramine, Dexamethasone, Montelukast, Loratadine, Cetirizine, Fexofenadine; Drug
Lead sponsor: Sanofi; Industry
Eligibility: 2 Years to 65 Years
Enrollment: 8 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2024
U.S. locations: 5
States / cities: Santa Monica, California • Atlanta, Georgia • Grand Rapids, Michigan + 2 more

Conditions: Danon Disease
Interventions: RP-A501; Genetic
Lead sponsor: Rocket Pharmaceuticals Inc.; Industry
Eligibility: 8 Years and older · Male only
Enrollment: 18 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2032
U.S. locations: 3
States / cities: La Jolla, California • Boston, Massachusetts • Philadelphia, Pennsylvania

Conditions: Cytomegalovirus Infections, HIV Infections
Interventions: Zidovudine, Ganciclovir; Drug
Lead sponsor: National Institute of Allergy and Infectious Diseases (NIAID); NIH
Eligibility: 18 Years and older
Enrollment: 60 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Ends 1990
U.S. locations: 3
States / cities: San Diego, California • New York, New York • Rochester, New York

Conditions: Neuronal Ceroid-Lipofuscinoses, Neuronal Ceroid Lipofuscinosis CLN2, Spinocerebellar Ataxia, Autosomal Recessive 7
Interventions: Not listed
Lead sponsor: Children's Hospital of Orange County; Other
Eligibility: 4 Years and older
Enrollment: 5 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2026
U.S. locations: 1
States / cities: Orange, California

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Stem Cell Transplant for Hemoglobinopathy

Pompe Pregnancy Sub-Registry

Glycosade v UCCS in the Dietary Management of Hepatic GSD

Understanding Fabry Disease Therapy Choices Through the Eyes of the Patients

Prescreening Study to Identify Potential Wilson Disease Participants for Gene-Editing Clinical Trial

An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry Disease

RGX-111 Gene Therapy in Patients With MPS I

rhGAA in Patients With Infantile-onset Glycogen Storage Disease-II (Pompe Disease)

Studies in Porphyria I: Characterization of Enzyme Defects

Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis

A Study to Evaluate Atumelnant in Adults With Congenital Adrenal Hyperplasia

Metyrapone for Mild Autonomous Cortisol Secretion (MACS)

Examining the Effect of Burosumab on Muscle Function

Natural History Study of Patients With Hypophosphatasia (HPP)

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

APOLLO: The Study of an Investigational Drug, Patisiran (ALN-TTR02), for the Treatment of Transthyretin (TTR)-Mediated Amyloidosis

A Study of the Cardiac Effects of ALXN1840 in Healthy Adults

A Global, Multicenter Study to Assess Maternal, Fetal and Infant Outcomes of Exposure to Palynziq® (Pegvaliase) During Pregnancy and Breastfeeding

A Clinical Study to Evaluate the Efficacy and Safety of MIN-102 (IMP) in Male AMN Patients

Phase II Randomized Study of Tin Mesoporphyrin for Neonatal Hyperbilirubinemia

A Prospective Study to Investigate Safety and Tolerability of Shorter Infusion of Fabrazyme

A Gene Therapy Study of RP-A501 in Male Patients With Danon Disease

A Study of AZT Plus Ganciclovir in Patients With AIDS and Cytomegalovirus (CMV) Infection

Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients