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ClinicalTrials.gov public records Last synced Oct 14, 2026, 9:02 PM EDT

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Showing 457–480 of 1,608 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Metabolism, Inborn Errors Clear all
Recruiting Phase 3 Interventional

A Study of Migalastat in Pediatric Subjects (2 to <12 Yrs) With Fabry Disease and Amenable GLA Variants

NCT06904261
View directory record Official record
Conditions
Fabry Disease
Interventions
Migalastat HCl 20 mg
Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
2 Years to 11 Years
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
6
States / cities
Atlanta, Georgia • Minneapolis, Minnesota • Charlotte, North Carolina + 3 more
Source: ClinicalTrials.gov public record
Updated Sep 1, 2026 · Synced Oct 14, 2026, 9:02 PM EDT
Terminated Phase 2 Interventional

UNLOCKED: A Phase 2, Open-label Trial With KB195 in Subjects With a Urea Cycle Disorder

NCT03933410
View directory record Official record
Conditions
Urea Cycle Disorder
Interventions
KB195
Drug
Lead sponsor
Kaleido Biosciences
Industry
Eligibility
18 Years to 65 Years
Enrollment
13 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2021
U.S. locations
6
States / cities
Washington D.C., District of Columbia • Tampa, Florida • Baltimore, Maryland + 3 more
Source: ClinicalTrials.gov public record
Updated Jan 25, 2022 · Synced Oct 14, 2026, 9:02 PM EDT
Completed No phase listed Observational

Lipoprotein Metabolism in Normal Volunteers and Patients With High Levels of Lipoproteins

NCT00001154
View directory record Official record
Conditions
Hypolipoproteinemia, Hypercholesterolemia, Dyslipidemia, Hyperlipidemia
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
18 Years to 80 Years
Enrollment
759 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1976
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 13, 2026 · Synced Oct 14, 2026, 9:02 PM EDT
Terminated Phase 4 Interventional Results available

The Role of F-18 Florbetapir in the Early Detection of Cardiac Amyloidosis

NCT03040427
View directory record Official record
Conditions
Cardiac Amyloidosis
Interventions
F-18 florbetapir
Drug
Lead sponsor
The Cleveland Clinic
Other
Eligibility
18 Years to 95 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2019
U.S. locations
1
States / cities
Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Jul 27, 2021 · Synced Oct 14, 2026, 9:02 PM EDT
Completed Phase 2 Interventional Results available

Efficacy and Safety of Extended Release and Immediate Release Febuxostat in Participants With Gout and Moderate Renal Impairment

NCT02128490
View directory record Official record
Conditions
Gout, Moderate Renal Impairment
Interventions
Febuxostat IR, Febuxostat XR, Febuxostat placebo, Colchicine, Naproxen, Lansoprazole
Drug
Lead sponsor
Takeda
Industry
Eligibility
18 Years and older
Enrollment
189 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2015
U.S. locations
89
States / cities
Birmingham, Alabama • Muscle Shoals, Alabama • Phoenix, Arizona + 75 more
Source: ClinicalTrials.gov public record
Updated Nov 3, 2016 · Synced Oct 14, 2026, 9:02 PM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Molecular and Cellular Mechanisms of Lysosomal Storage Diseases

NCT02000310
View directory record Official record
Conditions
Lysosomal Storage Disorders
Interventions
Not listed
Lead sponsor
O & O Alpan LLC
Other
Eligibility
1 Day to 100 Years
Enrollment
80 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2022
U.S. locations
1
States / cities
Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Feb 23, 2021 · Synced Oct 14, 2026, 9:02 PM EDT
Terminated Phase 2 Interventional

Implitapide in Patients With Heterozygous Familial Hypercholesterolemia (HeFH) on Maximal Concurrent Lipid-Lowering Therapy

NCT00079859
View directory record Official record
Conditions
Familial Hypercholesterolemia
Interventions
Implitapide
Drug
Lead sponsor
Medical Research Laboratories International
Industry
Eligibility
18 Years to 70 Years
Enrollment
120 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2005
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 14, 2026, 9:02 PM EDT
Completed Phase 2 Interventional

CMV Retinitis Retreatment Trial

NCT00000766
View directory record Official record
Conditions
Cytomegalovirus Retinitis, HIV Infections
Interventions
Foscarnet sodium, Ganciclovir
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
18 Years and older
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
9
States / cities
La Jolla, California • Los Angeles, California • San Francisco, California + 4 more
Source: ClinicalTrials.gov public record
Updated Mar 1, 2011 · Synced Oct 14, 2026, 9:02 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

A Study to Assess Plasma Ammonia Time-Normalized Area Under the Curve and Rate of Ureagenesis in Healthy Adult Subjects

NCT04269122
View directory record Official record
Conditions
Ornithine Transcarbamylase Deficiency
Interventions
No Intervention
Other
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
18 Years to 55 Years
Enrollment
120 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2020
U.S. locations
1
States / cities
Austin, Texas
Source: ClinicalTrials.gov public record
Updated Mar 30, 2020 · Synced Oct 14, 2026, 9:02 PM EDT
Recruiting Phase 4 Interventional Accepts healthy volunteers

Ultrasound Therapy In Cardiac Amyloidosis

NCT04667494
View directory record Official record
Conditions
Amyloidosis Cardiac
Interventions
Sonotherapy
Combination Product
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
18 Years to 90 Years
Enrollment
70 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2027
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Aug 21, 2026 · Synced Oct 14, 2026, 9:02 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

North Carolina Newborn Exome Sequencing for Universal Screening

NCT02826694
View directory record Official record
Conditions
Metabolism, Inborn Errors, Hearing Loss, Hereditary Disease
Interventions
Well infant, whole exome sequencing, Diagnosed, whole exome sequencing
Genetic
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
1 Hour to 5 Years
Enrollment
106 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2019
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 8, 2020 · Synced Oct 14, 2026, 9:02 PM EDT
Completed No phase listed Observational

A Study of Velaglucerase Alfa (VPRIV) Given as Standard Patient Care in Young Children With Gaucher Disease

NCT04721366
View directory record Official record
Conditions
Gaucher Disease
Interventions
Standard of Care
Other
Lead sponsor
Takeda
Industry
Eligibility
Up to 5 Years
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
1
States / cities
Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Mar 29, 2024 · Synced Oct 14, 2026, 9:02 PM EDT
Completed Not applicable Interventional

Glycosade v UCCS in the Dietary Management of Hepatic GSD

NCT02318966
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Feb 16, 2024 · Synced Oct 14, 2026, 9:02 PM EDT
Terminated Not applicable Interventional Results available

Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation

NCT01319851
View directory record Official record
Conditions
Thalassemia, Sickle Cell Disease, Glanzmann Thrombasthenia, Wiskott-Aldrich Syndrome, Chronic-granulomatous Disease, Severe Congenital Neutropenia, Leukocyte Adhesion Deficiency, Schwachman-Diamond Syndrome, Diamond-Blackfan Anemia, Fanconi Anemia, Dyskeratosis-congenita, Chediak-Higashi Syndrome, Severe Aplastic Anemia
Interventions
Alefacept
Drug
Lead sponsor
Emory University
Other
Eligibility
Up to 21 Years
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2013
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated Jul 27, 2017 · Synced Oct 14, 2026, 9:02 PM EDT
Completed Phase 1Phase 2 Interventional Results available

Safety and Efficacy of Deferasirox (ICL670) in Patients With Iron Overload Resulting From Hereditary Hemochromatosis

NCT00395629
View directory record Official record
Conditions
Iron Overload, Hereditary Hemochromatosis
Interventions
Deferasirox (ICL670)
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
49 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2009
U.S. locations
9
States / cities
Long Beach, California • Farmington, Connecticut • Detroit, Michigan + 6 more
Source: ClinicalTrials.gov public record
Updated May 30, 2011 · Synced Oct 14, 2026, 9:02 PM EDT
Terminated Phase 2 Interventional Results available

A Ph2b to Evaluate Tildacerfont in the Reduction of Glucocorticoid Steroid Doses in Adult CAH

NCT04544410
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia
Interventions
Tildacerfont/Placebo
Drug
Lead sponsor
Spruce Biosciences
Industry
Eligibility
18 Years and older
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
18
States / cities
Birmingham, Alabama • Los Angeles, California • San Diego, California + 13 more
Source: ClinicalTrials.gov public record
Updated Oct 1, 2025 · Synced Oct 14, 2026, 9:02 PM EDT
Completed No phase listed Observational

Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment

NCT02311283
View directory record Official record
Conditions
Urea Cycle Disorders
Interventions
Not listed
Lead sponsor
University of South Florida
Other
Eligibility
Not listed
Enrollment
87 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
1
States / cities
Tampa, Florida
Source: ClinicalTrials.gov public record
Updated Mar 7, 2018 · Synced Oct 14, 2026, 9:02 PM EDT
Completed Phase 2 Interventional Results available

Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-naïve Adult Male Patients With Fabry Disease

NCT02228460
View directory record Official record
Conditions
Fabry Disease
Interventions
GZ/SAR402671
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
18 Years to 49 Years · Male only
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
3
States / cities
Atlanta, Georgia • Cincinnati, Ohio • Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Dec 17, 2019 · Synced Oct 14, 2026, 9:02 PM EDT
Active, not recruiting Not applicable Interventional

A Study About Antibody Levels and Biomarkers in the Blood in People With Late-onset Pompe Disease

NCT06150820
View directory record Official record
Conditions
Pompe Disease (Late-onset)
Interventions
No Intervention
Other
Lead sponsor
Astellas Gene Therapies
Industry
Eligibility
16 Years to 69 Years
Enrollment
119 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2027
U.S. locations
10
States / cities
Atlanta, Georgia • Kansas City, Kansas • Ann Arbor, Michigan + 7 more
Source: ClinicalTrials.gov public record
Updated Oct 8, 2026 · Synced Oct 14, 2026, 9:02 PM EDT
Completed No phase listed Observational

Fabry Patient's Experience Of PegunigaLsidasE Alfa Monthly Infusion

NCT05186324
View directory record Official record
Conditions
Fabry Disease
Interventions
Interview
Other
Lead sponsor
Chiesi Farmaceutici S.p.A.
Industry
Eligibility
Not listed
Enrollment
23 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022
U.S. locations
7
States / cities
Birmingham, Alabama • Atlanta, Georgia • Iowa City, Iowa + 4 more
Source: ClinicalTrials.gov public record
Updated Mar 21, 2023 · Synced Oct 14, 2026, 9:02 PM EDT
Recruiting No phase listed Observational

Pompe Pregnancy Sub-Registry

NCT00567073
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Apr 16, 2026 · Synced Oct 14, 2026, 9:02 PM EDT
Completed Phase 1 Interventional Results available

RDEA3170 and Allopurinol Combination Study in Gout Subjects

NCT02279641
View directory record Official record
Conditions
Gout
Interventions
RDEA3170 10 mg, allopurinol 300 mg
Drug
Lead sponsor
Ardea Biosciences, Inc.
Industry
Eligibility
18 Years to 75 Years · Male only
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2015
U.S. locations
1
States / cities
Overland Park, Kansas
Source: ClinicalTrials.gov public record
Updated Dec 20, 2017 · Synced Oct 14, 2026, 9:02 PM EDT
Completed No phase listed Observational

Deferoxamine for the Treatment of Hemochromatosis

NCT00001203
View directory record Official record
Conditions
Diabetes Mellitus, Heart Disease, Hemochromatosis, Thalassemia
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
4 Years and older
Enrollment
151 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1985 – 2015
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 12, 2019 · Synced Oct 14, 2026, 9:02 PM EDT
Completed Phase 2 Interventional Results available

Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders

NCT00919503
View directory record Official record
Conditions
Non-Neoplastic Hematologic and Lymphocytic Disorder
Interventions
Allogeneic Bone Marrow Transplantation, Anti-Thymocyte Globulin, Cyclosporine, Fludarabine Phosphate, Laboratory Biomarker Analysis, Methotrexate, Mycophenolate Mofetil, Peripheral Blood Stem Cell Transplantation, Tacrolimus, Total-Body Irradiation, Treosulfan, Umbilical Cord Blood Transplantation
Procedure · Biological · Drug + 2 more
Lead sponsor
Fred Hutchinson Cancer Center
Other
Eligibility
Up to 49 Years
Enrollment
98 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2020
U.S. locations
6
States / cities
Aurora, Colorado • Portland, Oregon • Nashville, Tennessee + 2 more
Source: ClinicalTrials.gov public record
Updated Aug 13, 2021 · Synced Oct 14, 2026, 9:02 PM EDT