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ClinicalTrials.gov public records Last synced Oct 29, 2026, 3:32 AM EDT

Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.

Showing 721–744 of 1,511 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Inborn Errors of Metabolism Disorders Clear all
Recruiting No phase listed Observational

Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease

NCT05843552
View directory record Official record
Conditions
Gaucher Disease
Interventions
no intervention
Other
Lead sponsor
University of Minnesota
Other
Eligibility
18 Years to 80 Years
Enrollment
30 participants
Timeline
2023 – 2026
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Apr 6, 2026 · Synced Oct 29, 2026, 3:32 AM EDT
Completed No phase listed Observational

Adrenal Hyperplasia Among Young People With PCOS

NCT01313455
View directory record Official record
Conditions
Adrenal Hyperplasia, Polycystic Ovarian Syndrome, Oligomenorrhea, Obesity, Hyperandrogenism
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
16 Years to 29 Years · Female only
Enrollment
96 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2017
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated May 31, 2019 · Synced Oct 29, 2026, 3:32 AM EDT
Not yet recruiting Not applicable Interventional

Cascade Testing In Identifying At-risk Family Members Of Individuals With Familial Hypercholesterolemia (FH) In PCP

NCT07653555
View directory record Official record
Conditions
Familial Hypercholesterolemia
Interventions
Cascade testing, Standard of Care
Other
Lead sponsor
Mayo Clinic
Other
Eligibility
1 Year and older
Enrollment
480 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2029
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Sep 18, 2026 · Synced Oct 29, 2026, 3:32 AM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

Study 102: Multiple Ascending Dose Study of ALLN-346 (Engineered Urate Oxidase)

NCT04829435
View directory record Official record
Conditions
Hyperuricemia, Gout
Interventions
ALLN-346, Placebo
Drug
Lead sponsor
Allena Pharmaceuticals
Industry
Eligibility
18 Years to 55 Years
Enrollment
18 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Jul 1, 2021 · Synced Oct 29, 2026, 3:32 AM EDT
Completed No phase listed Observational

Study of Fludarabine Drug Exposure in Pediatric Bone Marrow Transplantation

NCT01316549
View directory record Official record
Conditions
Hematologic Malignancies, Nonmalignant Diseases, Immunodeficiencies, Hemoglobinopathies, Genetic Inborn Errors of Metabolism, Fanconi Anemia, Thalassemia, Sickle Cell Disease
Interventions
Fludarabine
Drug
Lead sponsor
University of California, San Francisco
Other
Eligibility
Up to 17 Years
Enrollment
67 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2016
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Oct 4, 2021 · Synced Oct 29, 2026, 3:32 AM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

Metabolism and Pharmacokinetics of Primaquine Enantiomers in Human Volunteers Receiving a Seven Day Dose Regimen

NCT03934450
View directory record Official record
Conditions
Malaria, Glucose 6 Phosphate Dehydrogenase Deficiency
Interventions
RPQ, SPQ, Primaquine Phosphate, Placebo
Drug
Lead sponsor
University of Mississippi, Oxford
Other
Eligibility
18 Years to 65 Years
Enrollment
36 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2019
U.S. locations
1
States / cities
University, Mississippi
Source: ClinicalTrials.gov public record
Updated May 14, 2019 · Synced Oct 29, 2026, 3:32 AM EDT
Withdrawn Not applicable Interventional

Effects of Growth Hormone in Chronically Ill Children

NCT00286689
View directory record Official record
Conditions
Hurler Syndrome, Cerebral Palsy, Juvenile Rheumatoid Arthritis, Crohn Disease, HIV Infections
Interventions
Growth Hormone, Whole body Protein turnover, DEXA scan
Drug · Procedure
Lead sponsor
University of Texas Southwestern Medical Center
Other
Eligibility
3 Years to 17 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Dec 14, 2018 · Synced Oct 29, 2026, 3:32 AM EDT
Completed Phase 1Phase 2 Interventional Results available

A Safety and Dose Ranging Study of Idursulfase (Intrathecal) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Hunter Syndrome Who Have Central Nervous System Involvement and Are Receiving Treatment With Elaprase®

NCT00920647
View directory record Official record
Conditions
Hunter Syndrome
Interventions
Control, Idursulfase IT (1 mg), Idursulfase IT (10 mg), Idursulfase IT (30 mg)
Other · Drug
Lead sponsor
Shire
Industry
Eligibility
3 Years to 18 Years · Male only
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2012
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jun 28, 2021 · Synced Oct 29, 2026, 3:32 AM EDT
Recruiting Phase 1 Interventional

Assessing the Safety and Tolerability of NMN in DHDDS-CDG

NCT07572825
View directory record Official record
Conditions
DHDDS-Congenital Disorder of Glycosylation, DHDDS-CDG, Congenital Disorder of Glycosylation
Interventions
Nicotinamide Mononucleotide (NMN) Nucleosidase
Drug
Lead sponsor
Eva Morava-Kozicz
Other
Eligibility
4 Years and older
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2027
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jun 22, 2026 · Synced Oct 29, 2026, 3:32 AM EDT
Completed Phase 1 Interventional Accepts healthy volunteers Results available

Intravenous N-acetylcysteine for the Treatment of Gaucher's Disease and Parkinson's Disease

NCT01427517
View directory record Official record
Conditions
Parkinson's Disease, Gaucher's Disease
Interventions
N-acetylcysteine
Drug
Lead sponsor
University of Minnesota
Other
Eligibility
18 Years and older
Enrollment
9 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2012
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Nov 1, 2019 · Synced Oct 29, 2026, 3:32 AM EDT
Completed No phase listed Observational

Pompe Gene Therapy- Screening for Eligibility

NCT03285126
View directory record Official record
Conditions
Pompe Disease (Late-onset)
Interventions
Not listed
Lead sponsor
Duke University
Other
Eligibility
18 Years and older
Enrollment
19 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2019
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 2, 2019 · Synced Oct 29, 2026, 3:32 AM EDT
Terminated Phase 1 Interventional

Safety and Efficacy of HMI-103 in Participants With Classical PKU Due to PAH Deficiency

NCT05222178
View directory record Official record
Conditions
Phenylketonurias, PAH Deficiency, Phenylketonuria
Interventions
HMI-103
Drug
Lead sponsor
Homology Medicines, Inc
Industry
Eligibility
18 Years to 55 Years
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2023
U.S. locations
2
States / cities
Topeka, Indiana • Lancaster, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Oct 10, 2023 · Synced Oct 29, 2026, 3:32 AM EDT
Completed Phase 1Phase 2 Interventional

Cholesterol in ASD: Characterization and Treatment

NCT00965068
View directory record Official record
Conditions
Autism, Asperger Disorder, PDD-NOS
Interventions
Cholesterol
Other
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
4 Years to 12 Years
Enrollment
44 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2013
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 5, 2018 · Synced Oct 29, 2026, 3:32 AM EDT
Recruiting No phase listed Observational

Prospective Research Rare Kidney Stones (ProRKS)

NCT02780297
View directory record Official record
Conditions
Hyperoxaluria, Cystinuria, Dent Disease, Lowe Syndrome, Adenine Phosphoribosyltransferase Deficiency
Interventions
Not listed
Lead sponsor
Mayo Clinic
Other
Eligibility
Not listed
Enrollment
220 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2028
U.S. locations
8
States / cities
Birmingham, Alabama • Jacksonville, Florida • Chicago, Illinois + 5 more
Source: ClinicalTrials.gov public record
Updated Aug 7, 2026 · Synced Oct 29, 2026, 3:32 AM EDT
Completed No phase listed Observational

Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease

NCT00351156
View directory record Official record
Conditions
Gaucher Disease
Interventions
Blood sample
Procedure
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
Not listed
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2007
U.S. locations
7
States / cities
San Francisco, California • Coral Springs, Florida • Decatur, Georgia + 4 more
Source: ClinicalTrials.gov public record
Updated Aug 19, 2010 · Synced Oct 29, 2026, 3:32 AM EDT
Completed Phase 3 Interventional Results available

Safety, Efficacy, & PK of PRX-102 in Patients With Fabry Disease Administered Intravenously Every 4 Weeks

NCT03180840
View directory record Official record
Conditions
Fabry Disease
Interventions
Pegunigalsidase alfa
Biological
Lead sponsor
Protalix
Industry
Eligibility
18 Years to 60 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2020
U.S. locations
7
States / cities
Birmingham, Alabama • Atlanta, Georgia • Iowa City, Iowa + 4 more
Source: ClinicalTrials.gov public record
Updated Sep 13, 2023 · Synced Oct 29, 2026, 3:32 AM 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 29, 2026, 3:32 AM EDT
Completed Phase 3 Interventional Results available

Safety, Tolerability and Efficacy of Evolocumab (AMG 145) in Children With Inherited Elevated Low-density Lipoprotein Cholesterol (Familial Hypercholesterolemia)

NCT02624869
View directory record Official record
Conditions
Familial Hypercholesterolemia
Interventions
Evolocumab
Biological
Lead sponsor
Amgen
Industry
Eligibility
10 Years to 17 Years
Enrollment
163 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2021
U.S. locations
3
States / cities
The Bronx, New York • Cincinnati, Ohio • Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated May 29, 2024 · Synced Oct 29, 2026, 3:32 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Resistance Exercise in Barth Syndrome

NCT01629459
View directory record Official record
Conditions
Barth Syndrome
Interventions
Resistance exercise and protein supplementation
Behavioral
Lead sponsor
Washington University School of Medicine
Other
Eligibility
15 Years to 35 Years · Male only
Enrollment
12 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2019
U.S. locations
1
States / cities
St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated May 13, 2020 · Synced Oct 29, 2026, 3:32 AM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

Comparison of KADIAN 100 mg When Dosed With Alcohol Under Fasting and Fed Conditions Compared to Water

NCT00768183
View directory record Official record
Conditions
Healthy
Interventions
KADIAN Capsule + alcohol (under fasting conditions), KADIAN Capsule + water (under fasting conditions), morphine sulfate IR oral solution + water, KADIAN Capsule + alcohol (under fed conditions)
Drug
Lead sponsor
Actavis Inc.
Industry
Eligibility
21 Years to 40 Years · Male only
Enrollment
32 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2006
U.S. locations
1
States / cities
Lincoln, Nebraska
Source: ClinicalTrials.gov public record
Updated Jul 16, 2020 · Synced Oct 29, 2026, 3:32 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Acute Glycine Pharmacodynamic Study

NCT01610011
View directory record Official record
Conditions
Schizophrenia, Psychotic Disorders
Interventions
Glycine administration
Dietary Supplement
Lead sponsor
Mclean Hospital
Other
Eligibility
18 Years to 55 Years
Enrollment
21 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2010 – 2013
U.S. locations
1
States / cities
Belmont, Massachusetts
Source: ClinicalTrials.gov public record
Updated Oct 27, 2015 · Synced Oct 29, 2026, 3:32 AM EDT
Completed Phase 4 Interventional Results available

Study to Allow Access to Nilotinib for Patients Who Are on Nilotinib Treatment in a Novartis-sponsored Study

NCT01735955
View directory record Official record
Conditions
Chronic Myelogenous Leukemia (CML), Metastatic Gastrointestinal Stromal Tumors (GIST), Acute Lymphoblastic Leukemia (ALL), Receptor Tyrosine Kinase (KIT) Mutated Melanoma
Interventions
Nilotinib
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
Not listed
Enrollment
57 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2023
U.S. locations
2
States / cities
Albany, New York • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Feb 8, 2024 · Synced Oct 29, 2026, 3:32 AM EDT
Enrolling by invitation Phase 2 Interventional

124I-Evuzamitide PET/CT Imaging In Patients With Lumbar Spinal Stenosis and Carpal Tunnel Syndrome

NCT06907849
View directory record Official record
Conditions
Lumbar Spinal Stenosis, Carpal Tunnel Syndrome (CTS), Cardiac Amyloidosis
Interventions
124I-evuzamitide
Drug
Lead sponsor
University of Tennessee Graduate School of Medicine
Other
Eligibility
60 Years and older
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
1
States / cities
Knoxville, Tennessee
Source: ClinicalTrials.gov public record
Updated Jul 21, 2026 · Synced Oct 29, 2026, 3:32 AM EDT
Completed Phase 2 Interventional

Study of ISIS 301012 (Mipomersen) in Heterozygous Familial Hypercholesterolemia Subjects on Lipid Lowering Therapy

NCT00281008
View directory record Official record
Conditions
Hypercholesterolemia, Familial
Interventions
ISIS 301012 or Placebo
Drug
Lead sponsor
Kastle Therapeutics, LLC
Industry
Eligibility
18 Years and older
Enrollment
44 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2007
U.S. locations
7
States / cities
Chicago, Illinois • Auburn, Maine • Scarborough, Maine + 4 more
Source: ClinicalTrials.gov public record
Updated Aug 3, 2016 · Synced Oct 29, 2026, 3:32 AM EDT