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ClinicalTrials.gov public records Last synced Oct 20, 2026, 2:28 PM EDT

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Showing 1–24 of 1,509 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Inborn Errors of Metabolism Disorders Clear all
Not yet recruiting Phase 1 Interventional

High-Dose Vitamin C in G6PDA and Pyruvate Kinase Deficiency: A Safety Study

NCT07612345
View directory record Official record
Conditions
Pyruvate Kinase Deficiency, Glucose 6 Phosphate Dehydrogenase Deficiency
Interventions
Vitamin C
Drug
Lead sponsor
University of Utah
Other
Eligibility
18 Years and older
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2027
U.S. locations
1
States / cities
Salt Lake City, Utah
Source: ClinicalTrials.gov public record
Updated May 28, 2026 · Synced Oct 20, 2026, 2:28 PM EDT
Active, not recruiting Phase 3 Interventional

ZIP Study-OL Study of Safety, PK, Efficacy, PD, Immunogenicity of ATB200/AT2221 in Pediatrics Aged 0 to < 18 y.o. w/LOPD

NCT03911505
View directory record Official record
Conditions
Pompe Disease (Late-onset)
Interventions
Cipaglucosidase Alfa, Miglustat
Biological · Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
0 Years to 17 Years
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2027
U.S. locations
9
States / cities
Gainesville, Florida • Jacksonville, Florida • Atlanta, Georgia + 6 more
Source: ClinicalTrials.gov public record
Updated Sep 17, 2026 · Synced Oct 20, 2026, 2:28 PM EDT
Completed No phase listed Observational

Natural History and Functional Status Study of Patients With Lafora Disease

NCT03876522
View directory record Official record
Conditions
Lafora Disease
Interventions
Not listed
Lead sponsor
Ionis Pharmaceuticals, Inc.
Industry
Eligibility
5 Years and older
Enrollment
33 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
2
States / cities
Los Angeles, California • Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Sep 28, 2022 · Synced Oct 20, 2026, 2:28 PM EDT
Terminated No phase listed Observational

Oxidative Stress, Inflammation and Acute Decompensation in Urea Cycle Disorders

NCT01541722
View directory record Official record
Conditions
Urea Cycle Disorders
Interventions
Not listed
Lead sponsor
Mark Batshaw
Other
Eligibility
Not listed
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2015
U.S. locations
10
States / cities
Los Angeles, California • Aurora, Colorado • Washington D.C., District of Columbia + 7 more
Source: ClinicalTrials.gov public record
Updated Oct 2, 2015 · Synced Oct 20, 2026, 2:28 PM EDT
Terminated Phase 3 Interventional Accepts healthy volunteers Results available

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

NCT04221451
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Jan 28, 2026 · Synced Oct 20, 2026, 2:28 PM EDT
Completed Phase 1 Interventional

Phase I Study of Retrovirally Mediated Transfer of the Human Glucocerebrosidase Gene Into Peripheral Blood Stem Cells for Autologous Transplantation in Patients With Type I Gaucher Disease

NCT00004294
View directory record Official record
Conditions
Gaucher's Disease
Interventions
human glucocerebrosidase gene into autologous peripheral blood stem cells
Genetic
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
18 Years to 65 Years
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 20, 2026, 2:28 PM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

Safety and Pharmacokinetics of AT1001 (Migalastat HCl) in Healthy Subjects and Subjects With Impaired Renal Function

NCT01730469
View directory record Official record
Conditions
Fabry Disease
Interventions
AT1001 150 mg
Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
18 Years to 75 Years
Enrollment
32 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2012
U.S. locations
4
States / cities
Costa Mesa, California • Miami, Florida • Orlando, Florida
Source: ClinicalTrials.gov public record
Updated Aug 3, 2017 · Synced Oct 20, 2026, 2:28 PM EDT
Completed Phase 2 Interventional Results available

Open Label Extension of ISIS 301012 (Mipomersen) to Treat Familial Hypercholesterolemia

NCT00477594
View directory record Official record
Conditions
Lipid Metabolism, Inborn Errors, Hypercholesterolemia, Autosomal Dominant, Hyperlipidemias, Metabolic Diseases, Hyperlipoproteinemia Type II, Metabolism, Inborn Errors, Genetic Diseases, Inborn, Infant, Newborn, Diseases, Metabolic Disorder, Congenital Abnormalities, Hypercholesterolemia, Hyperlipoproteinemias, Dyslipidemias, Lipid Metabolism Disorders
Interventions
mipomersen sodium
Drug
Lead sponsor
Kastle Therapeutics, LLC
Industry
Eligibility
12 Years and older
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2011
U.S. locations
5
States / cities
Chicago, Illinois • Auburn, Maine • Biddeford, Maine + 2 more
Source: ClinicalTrials.gov public record
Updated Sep 9, 2016 · Synced Oct 20, 2026, 2:28 PM EDT
Terminated Phase 1 Interventional Results available

Efficacy, Safety And Tolerability Of PF-06743649 In Gout Subjects.

NCT02187029
View directory record Official record
Conditions
Gout
Interventions
PF-06743649, Placebo
Drug · Other
Lead sponsor
Pfizer
Industry
Eligibility
18 Years to 60 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014
U.S. locations
4
States / cities
Miami, Florida • South Miami, Florida • Overland Park, Kansas
Source: ClinicalTrials.gov public record
Updated Nov 11, 2016 · Synced Oct 20, 2026, 2:28 PM EDT
Completed Phase 2 Interventional Results available

An Extension Trial of Inclisiran in Participants With Cardiovascular Disease and High Cholesterol

NCT03060577
View directory record Official record
Conditions
Atherosclerotic Cardiovascular Disease, Symptomatic Atherosclerosis, Type2 Diabetes, Familial Hypercholesterolemia
Interventions
Inclisiran, Evolocumab
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
382 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2021
U.S. locations
8
States / cities
Jacksonville, Florida • Indianapolis, Indiana • New York, New York + 4 more
Source: ClinicalTrials.gov public record
Updated Mar 24, 2023 · Synced Oct 20, 2026, 2:28 PM EDT
Recruiting Phase 3 Interventional

KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases

NCT06451757
View directory record Official record
Conditions
Mitochondrial Diseases, Maternally Inherited Diabetes and Deafness (MIDD), Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS), Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation
Interventions
Sonlicromanol, Placebo
Drug
Lead sponsor
Khondrion BV
Industry
Eligibility
18 Years and older
Enrollment
220 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2029
U.S. locations
3
States / cities
Boston, Massachusetts • Cleveland, Ohio • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Oct 14, 2026 · Synced Oct 20, 2026, 2:28 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy

NCT01594853
View directory record Official record
Conditions
X-linked Adrenoleukodystrophy
Interventions
exercise training
Behavioral
Lead sponsor
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Other
Eligibility
21 Years to 70 Years · Female only
Enrollment
31 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2014
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 29, 2018 · Synced Oct 20, 2026, 2:28 PM EDT
Completed Phase 4 Interventional

A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease.

NCT00365131
View directory record Official record
Conditions
Gaucher Disease Type I, Cerebroside Lipidosis Syndrome, Clucocerebrosidase Deficiency Disease, Glucosylceramide Beta-Glucosidase Deficiency Disease, Gaucher Disease, Non-Neuronopathic Form
Interventions
Cerezyme (imiglucerase for injection)
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
10 Years to 65 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1997 – 2004
U.S. locations
1
States / cities
Coral Springs, Florida
Source: ClinicalTrials.gov public record
Updated Mar 5, 2015 · Synced Oct 20, 2026, 2:28 PM EDT
Active, not recruiting Phase 3 Interventional Results available

Global Safety and Efficacy Registration Study of Crinecerfont in Pediatric Participants With Classic Congenital Adrenal Hyperplasia (CAHtalyst Pediatric Study)

NCT04806451
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia
Interventions
Crinecerfont, Placebo
Drug
Lead sponsor
Neurocrine Biosciences
Industry
Eligibility
2 Years to 17 Years
Enrollment
103 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2027
U.S. locations
22
States / cities
Birmingham, Alabama • Los Angeles, California • Orange, California + 19 more
Source: ClinicalTrials.gov public record
Updated Feb 5, 2025 · Synced Oct 20, 2026, 2:28 PM EDT
Completed Phase 2 Interventional Results available

Safety and Efficacy Study of Sebelipase Alfa in Participants With Lysosomal Acid Lipase Deficiency

NCT02112994
View directory record Official record
Conditions
Lysosomal Acid Lipase Deficiency
Interventions
Sebelipase Alfa
Drug
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
8 Months and older
Enrollment
31 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2017
U.S. locations
3
States / cities
Chicago, Illinois • Shreveport, Louisiana • Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Dec 4, 2019 · Synced Oct 20, 2026, 2:28 PM EDT
Active, not recruiting Phase 2 Interventional

Metyrapone for Mild Autonomous Cortisol Secretion (MACS)

NCT06106295
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Sep 25, 2026 · Synced Oct 20, 2026, 2:28 PM EDT
Completed Phase 2 Interventional Results available

Theophylline as a Treatment for Children With Pseudohypoparathyroidism Type 1a (Albright Hereditary Osteodystrophy)

NCT02463409
View directory record Official record
Conditions
Pseudohypoparathyroidism Type 1a, Albright Hereditary Osteodystrophy
Interventions
Theophylline
Drug
Lead sponsor
Vanderbilt University Medical Center
Other
Eligibility
10 Years to 21 Years
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2016
U.S. locations
1
States / cities
Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Jun 26, 2017 · Synced Oct 20, 2026, 2:28 PM EDT
Completed No phase listed Observational Results available

An Observational Study Evaluating Anti-Idursulfase Serum Antibody Response in Hunter Syndrome Patients

NCT00882921
View directory record Official record
Conditions
Hunter Syndrome
Interventions
Idursulfase
Biological
Lead sponsor
Shire
Industry
Eligibility
5 Years and older · Male only
Enrollment
26 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2013
U.S. locations
2
States / cities
Oakland, California • Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jun 8, 2021 · Synced Oct 20, 2026, 2:28 PM EDT
Recruiting No phase listed Observational

A Study Of Deep Learning For Echo Analysis, Tracking, And Evaluation

NCT07308704
View directory record Official record
Conditions
Cardiomyopathy, Ischemic Heart Disease, Cardiac Amyloidosis
Interventions
Transthoracic Echocardiography (TTE)
Diagnostic Test
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years and older
Enrollment
10,040,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Apr 16, 2026 · Synced Oct 20, 2026, 2:28 PM EDT
Recruiting No phase listed Observational

Longitudinal Study of Neurodegenerative Disorders

NCT03333200
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Feb 9, 2026 · Synced Oct 20, 2026, 2:28 PM EDT
Completed Not applicable Interventional

The Effect of Exercise on Muscle Dysfunction in Cystinosis

NCT04071548
View directory record Official record
Conditions
Cystinosis
Interventions
HIIT Exercise
Other
Lead sponsor
Stanford University
Other
Eligibility
18 Years to 60 Years
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2024
U.S. locations
1
States / cities
Palo Alto, California
Source: ClinicalTrials.gov public record
Updated Oct 2, 2024 · Synced Oct 20, 2026, 2:28 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Study of Skeletal Disorders

NCT05031507
View directory record Official record
Conditions
Skeletal Disorders
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
2 Months to 100 Years
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2027
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 20, 2026 · Synced Oct 20, 2026, 2:28 PM EDT
Completed Not applicable Interventional Results available

Low Cost OCT for Point of Care

NCT03323307
View directory record Official record
Conditions
Optical Coherence Tomography (OCT) of the Retina
Interventions
OCT imaging
Device
Lead sponsor
Duke University
Other
Eligibility
18 Years and older
Enrollment
70 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Dec 5, 2019 · Synced Oct 20, 2026, 2:28 PM EDT
Completed Phase 3 Interventional Results available

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

NCT00943111
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Nov 25, 2016 · Synced Oct 20, 2026, 2:28 PM EDT