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ClinicalTrials.gov public records Last synced Oct 26, 2026, 10:28 PM EDT

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Showing 409–432 of 2,421 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Metabolic Abnormalities Clear all
Completed No phase listed Observational Accepts healthy volunteers

Testing of Four Home Phenylalanine Monitoring Prototype Devices

NCT02445521
View directory record Official record
Conditions
Phenylketonurias
Interventions
Not listed
Lead sponsor
Emory University
Other
Eligibility
Not listed
Enrollment
9 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015
U.S. locations
3
States / cities
Atlanta, Georgia • Decatur, Georgia
Source: ClinicalTrials.gov public record
Updated Dec 11, 2015 · Synced Oct 26, 2026, 10:28 PM EDT
Terminated Phase 2 Interventional Results available

An Extension Study to Determine Safety and Efficacy for Pediatric Patients With MPS Type IIIA Disease Who Participated in Study HGT-SAN-093.

NCT02350816
View directory record Official record
Conditions
Sanfilippo Syndrome, Mucopolysaccharidosis (MPS)
Interventions
HGT-1410
Drug
Lead sponsor
Shire
Industry
Eligibility
12 Months to 48 Months
Enrollment
17 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2019
U.S. locations
2
States / cities
Minneapolis, Minnesota • Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jun 11, 2021 · Synced Oct 26, 2026, 10:28 PM EDT
Terminated Phase 1Phase 2 Interventional Results available

SCID Bu/Flu/ATG Study With T Cell Depletion

NCT02127892
View directory record Official record
Conditions
Severe Combined Immunodeficiency
Interventions
unrelated BM with T cell depletion, unrelated cord blood, haplo BM with T cell depletion, unrelated PBSC with T cell depletion
Biological · Device
Lead sponsor
Neena Kapoor, M.D.
Other
Eligibility
Up to 21 Years
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2016
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Sep 18, 2017 · Synced Oct 26, 2026, 10:28 PM EDT
Completed Phase 1Phase 2 Interventional Results available

Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in Mucopolysaccharidosis III, Type B (MPS IIIB)

NCT02324049
View directory record Official record
Conditions
Mucopolysaccharidosis IIIB
Interventions
SBC-103
Drug
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
2 Years to 12 Years
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2017
U.S. locations
2
States / cities
Minneapolis, Minnesota • Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Aug 21, 2018 · Synced Oct 26, 2026, 10:28 PM EDT
Completed Phase 3 Interventional Results available

A Safety and Efficacy Study of AEGR-733 to Treat Homozygous Familial Hypercholesterolemia (FH)

NCT00730236
View directory record Official record
Conditions
Homozygous Familial Hypercholesterolemia
Interventions
AEGR-733
Drug
Lead sponsor
Aegerion Pharmaceuticals, Inc.
Industry
Eligibility
18 Years and older
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2011
U.S. locations
2
States / cities
Los Angeles, California • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Mar 20, 2018 · Synced Oct 26, 2026, 10:28 PM EDT
Completed No phase listed Observational

Mucopolysaccharidosis I (MPS I) Registry

NCT00144794
View directory record Official record
Conditions
Mucopolysaccharidosis I (MPS I)
Interventions
Not listed
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
Not listed
Enrollment
1,406 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2024
U.S. locations
53
States / cities
Phoenix, Arizona • Little Rock, Arkansas • Los Angeles, California + 44 more
Source: ClinicalTrials.gov public record
Updated Feb 27, 2026 · Synced Oct 26, 2026, 10:28 PM EDT
Completed Phase 1Phase 2 Interventional Results available

A Repeated Study of KRN23 in Adults With X-Linked Hypophosphatemia

NCT01340482
View directory record Official record
Conditions
X-linked Hypophosphatemia
Interventions
KRN23
Drug
Lead sponsor
Kyowa Kirin Co., Ltd.
Industry
Eligibility
18 Years and older
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2013
U.S. locations
5
States / cities
San Francisco, California • New Haven, Connecticut • Indianapolis, Indiana + 2 more
Source: ClinicalTrials.gov public record
Updated Jun 18, 2024 · Synced Oct 26, 2026, 10:28 PM EDT
Recruiting Phase 3 Interventional

A Pivotal Study of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C

NCT05163288
View directory record Official record
Conditions
Niemann-Pick Disease, Type C
Interventions
N-Acetyl-L-Leucine, Placebo
Drug · Other
Lead sponsor
IntraBio Inc
Industry
Eligibility
4 Years and older
Enrollment
53 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2030
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Apr 3, 2026 · Synced Oct 26, 2026, 10:28 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Metabolic Profiling of Immune Responses in Immune-mediated Diseases

NCT04864886
View directory record Official record
Conditions
Primary Immunodeficiency, Psoriasis, Atopic Dermatitis, Immune-mediated Diseases
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
18 Years to 75 Years
Enrollment
300 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2027
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 22, 2026 · Synced Oct 26, 2026, 10:28 PM EDT
Completed Not applicable Interventional

Coronary Artery Disease in Patients With Friedreich's Ataxia

NCT04649866
View directory record Official record
Conditions
Friedreich Ataxia
Interventions
plethysmography
Diagnostic Test
Lead sponsor
University of Pittsburgh
Other
Eligibility
18 Years to 79 Years
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Sep 8, 2023 · Synced Oct 26, 2026, 10:28 PM EDT
Terminated No phase listed Observational

Study to Characterize Rate of Ureagenesis in Patients With Ornithine Transcarbamylase (OTC) Deficiency

NCT04717453
View directory record Official record
Conditions
Ornithine Transcarbamylase Deficiency
Interventions
No Intervention
Other
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
18 Years and older
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2021
U.S. locations
1
States / cities
Orlando, Florida
Source: ClinicalTrials.gov public record
Updated Feb 18, 2022 · Synced Oct 26, 2026, 10:28 PM EDT
Recruiting Phase 3 Interventional

Study to Evaluate Efficacy and Safety of Inclisiran in Children With Heterozygous Familial Hypercholesterolemia

NCT06597019
View directory record Official record
Conditions
Familial Hypercholesterolemia - Heterozygous
Interventions
Inclisiran, Placebo
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
6 Years to 11 Years
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2029
U.S. locations
9
States / cities
San Francisco, California • Washington D.C., District of Columbia • Boca Raton, Florida + 4 more
Source: ClinicalTrials.gov public record
Updated May 15, 2026 · Synced Oct 26, 2026, 10:28 PM EDT
Completed Phase 1 Interventional

Effect of ACP-501 on Safety, Tolerability, Pharmacokinetics and Pharmacodynamics in Subjects With Coronary Artery Disease

NCT01554800
View directory record Official record
Conditions
Coronary Artery Disease, Atherosclerosis
Interventions
ACP-501
Drug
Lead sponsor
MedImmune LLC
Industry
Eligibility
30 Years to 85 Years
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 14, 2019 · Synced Oct 26, 2026, 10:28 PM EDT
Recruiting Phase 1Phase 2 Interventional

ATR 1072 in Participants With PRKAG2 Syndrome

NCT07738107
View directory record Official record
Conditions
Cardiac Glycogenosis, Cardiomyopathy, Hypertrophic, Wolff-Parkinson-White Syndrome
Interventions
ATR 1072
Drug
Lead sponsor
Atrium Therapeutics
Industry
Eligibility
18 Years to 65 Years
Enrollment
37 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
1
States / cities
Kansas City, Missouri
Source: ClinicalTrials.gov public record
Updated Sep 18, 2026 · Synced Oct 26, 2026, 10:28 PM EDT
Completed Not applicable Interventional Results available

Optimizing Individual Nutrition in Preterm Very Low Birth Weight Infants

NCT02372136
View directory record Official record
Conditions
Infant, Premature, Diseases, Infant, Small for Gestational Age
Interventions
Individualized Nutrition, Optimized nutrition
Dietary Supplement
Lead sponsor
University of Texas Southwestern Medical Center
Other
Eligibility
Up to 7 Days
Enrollment
120 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2023
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Jul 3, 2024 · Synced Oct 26, 2026, 10:28 PM EDT
Terminated No phase listed Observational

Insulin Resistance Before and During Pregnancy in Women With Polycystic Ovary Syndrome

NCT01475565
View directory record Official record
Conditions
Polycystic Ovary Syndrome, Insulin Resistance, Insulin Sensitivity, Obesity, Pregnancy
Interventions
Not listed
Lead sponsor
Virginia Commonwealth University
Other
Eligibility
18 Years to 40 Years · Female only
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2014
U.S. locations
1
States / cities
Richmond, Virginia
Source: ClinicalTrials.gov public record
Updated Dec 14, 2015 · Synced Oct 26, 2026, 10:28 PM EDT
Completed Phase 2 Interventional Results available

A Phase 2, Pharmacokinetic (PK) Study of 6R-BH4 Alone or 6R-BH4 With Vitamin C in Subjects With Endothelial Dysfunction

NCT00532844
View directory record Official record
Conditions
Endothelial Dysfunction
Interventions
Sapropterin Dihydrochloride, Sapropterin Dihydrochloride and Vitamin C
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
18 Years to 75 Years
Enrollment
52 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2009
U.S. locations
1
States / cities
Hackensack, New Jersey
Source: ClinicalTrials.gov public record
Updated May 17, 2021 · Synced Oct 26, 2026, 10:28 PM EDT
Completed Phase 1 Interventional

Placebo Controlled, Dose Escalation Study to Evaluate Safety, Pharmacokinetics & Efficacy of SAP-001 in Gout Patients

NCT03857165
View directory record Official record
Conditions
Gout, Hyperuricemia
Interventions
SAP-001
Drug
Lead sponsor
Shanton Pharma Co., Ltd.
Industry
Eligibility
18 Years to 75 Years
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2019
U.S. locations
3
States / cities
Anaheim, California • DeLand, Florida • High Point, North Carolina
Source: ClinicalTrials.gov public record
Updated Oct 14, 2021 · Synced Oct 26, 2026, 10:28 PM EDT
Active, not recruiting Phase 1 Interventional

Pembrolizumab in Treating Younger Patients With Recurrent, Progressive, or Refractory High-Grade Gliomas, Diffuse Intrinsic Pontine Gliomas, Hypermutated Brain Tumors, Ependymoma or Medulloblastoma

NCT02359565
View directory record Official record
Conditions
Constitutional Mismatch Repair Deficiency Syndrome, Lynch Syndrome, Malignant Glioma, Recurrent Brain Neoplasm, Recurrent Childhood Ependymoma, Recurrent Diffuse Intrinsic Pontine Glioma, Recurrent Medulloblastoma, Refractory Brain Neoplasm, Refractory Diffuse Intrinsic Pontine Glioma, Refractory Ependymoma, Refractory Medulloblastoma
Interventions
Biospecimen Collection, Conventional Magnetic Resonance Imaging, Diffusion Tensor Imaging, Diffusion Weighted Imaging, Dynamic Contrast-enhanced MR Perfusion, Dynamic Susceptibility Contrast-Perfusion-Weighted Imaging, Magnetic Resonance Spectroscopic Imaging, Pembrolizumab
Procedure · Biological
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
1 Year to 30 Years
Enrollment
71 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2027
U.S. locations
11
States / cities
Los Angeles, California • Palo Alto, California • Aurora, Colorado + 8 more
Source: ClinicalTrials.gov public record
Updated Jul 20, 2026 · Synced Oct 26, 2026, 10:28 PM EDT
Completed Phase 1 Interventional

Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease

NCT02240407
View directory record Official record
Conditions
Pompe Disease
Interventions
Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase, Rapamycin, saline, Rituxan, Diphenhydramine, Acetaminophen, Lidocaine, LMX 4 Topical Cream
Genetic · Drug · Other
Lead sponsor
University of Florida
Other
Eligibility
18 Years to 50 Years
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2021
U.S. locations
1
States / cities
Gainesville, Florida
Source: ClinicalTrials.gov public record
Updated Apr 5, 2022 · Synced Oct 26, 2026, 10:28 PM EDT
Active, not recruiting No phase listed Observational

Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients

NCT04098211
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Apr 8, 2026 · Synced Oct 26, 2026, 10:28 PM EDT
Recruiting No phase listed Observational

Lynch Syndrome X-Talk of Enteral Mucosa With Immune System

NCT06708429
View directory record Official record
Conditions
Lynch Syndrome, Lynch Syndrome I, Lynch Syndrome II, Lynch Syndrome I (Site-specific Colonic Cancer), HNPCC, HNPCC Gene Mutation, Hereditary Cancer Syndrome, Hereditary Cancer, MLH1 Gene Mutation, MLH1 Gene Deletion+Duplication, MLH1 Loss of Expression, MLH1 Gene Inactivation, MSH2 Gene Mutation, MSH2 Gene Deletion+Duplication, MSH2 Loss of Expression, MSH2 Gene Inactivation, MSH6 Gene Mutation, MSH6 Loss of Expression, MSH6 Gene Inactivation, PMS2 Gene Mutation, PMS2 Gene Inactivation, PMS2 Loss of Expression
Interventions
LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System)
Diagnostic Test
Lead sponsor
San Raffaele University
Other
Eligibility
18 Years and older
Enrollment
300 participants
Timeline
2023 – 2034
U.S. locations
1
States / cities
Monrovia, California
Source: ClinicalTrials.gov public record
Updated Apr 24, 2026 · Synced Oct 26, 2026, 10:28 PM EDT
Completed No phase listed Observational Results available

Chronic Liver Disease in Urea Cycle Disorders

NCT03721367
View directory record Official record
Conditions
Urea Cycle Disorder
Interventions
Diagnostic Ultrasound
Other
Lead sponsor
Baylor College of Medicine
Other
Eligibility
5 Years to 60 Years
Enrollment
28 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2020
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Feb 10, 2023 · Synced Oct 26, 2026, 10:28 PM EDT
Completed No phase listed Observational

Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes

NCT00004351
View directory record Official record
Conditions
Williams Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Shprintzen Syndrome, Smith-Magenis Syndrome, DiGeorge Syndrome, Chromosome Abnormalities
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
0 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 26, 2026, 10:28 PM EDT