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ClinicalTrials.gov public records Last synced Oct 14, 2026, 1:20 PM EDT

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Showing 337–360 of 1,608 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Metabolism, Inborn Errors Clear all
Completed No phase listed Observational Accepts healthy volunteers

Assessment of Primary Care Providers' Knowledge and Beliefs Regarding Gout Management

NCT01151709
View directory record Official record
Conditions
Gout
Interventions
Not listed
Lead sponsor
University of Massachusetts, Worcester
Other
Eligibility
18 Years and older
Enrollment
838 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2010 – 2012
U.S. locations
1
States / cities
Worcester, Massachusetts
Source: ClinicalTrials.gov public record
Updated Mar 7, 2012 · Synced Oct 14, 2026, 1:20 PM EDT
Suspended Not applicable Interventional

The PhOCus Trial: Implementation of Pharmacogenomic Testing in Oncology Care

NCT04541381
View directory record Official record
Conditions
Gastrointestinal Cancer, Head and Neck Cancer, Dihydropyrimidine Dehydrogenase Deficiency, UGT1A1 Gene Mutation, Breast Cancer
Interventions
Availability of clinical decision support based on pharmacogenomic results.
Other
Lead sponsor
University of Chicago
Other
Eligibility
18 Years and older
Enrollment
860 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2028
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated May 7, 2026 · Synced Oct 14, 2026, 1:20 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 14, 2026, 1:20 PM EDT
Recruiting Phase 1 Interventional

A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AG-181 in Subjects With Phenylketonuria

NCT07241234
View directory record Official record
Conditions
Phenylketonuria
Interventions
AG-181
Drug
Lead sponsor
Agios Pharmaceuticals, Inc.
Industry
Eligibility
18 Years to 69 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
3
States / cities
Indianapolis, Indiana • Pittsburgh, Pennsylvania • Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Sep 28, 2026 · Synced Oct 14, 2026, 1:20 PM EDT
Withdrawn Phase 4 Interventional

A Study in Patients With Fabry Disease Who Are on Chronic Hemodialysis Therapy for Treatment of End-stage Renal Insufficiency.

NCT00312767
View directory record Official record
Conditions
Fabry Disease
Interventions
Fabrazyme (agalsidase beta)
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
18 Years to 65 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2006
U.S. locations
1
States / cities
North Charleston, South Carolina
Source: ClinicalTrials.gov public record
Updated Feb 5, 2014 · Synced Oct 14, 2026, 1:20 PM EDT
Recruiting No phase listed Observational

Registry of Patients Diagnosed With Lysosomal Storage Diseases

NCT05619900
View directory record Official record
Conditions
Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Pompe Disease Infantile-Onset, Neuronopathic Gaucher Disease, Wolman Disease
Interventions
There is no intervention
Other
Lead sponsor
University of California, San Francisco
Other
Eligibility
Up to 64 Years
Enrollment
250 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2050
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Apr 8, 2026 · Synced Oct 14, 2026, 1:20 PM EDT
Completed Phase 2 Interventional

Pilot Study Of Unrelated UCB Transplant for Non-Malignant Hematologic Conditions

NCT00003336
View directory record Official record
Conditions
Leukemia, Myelodysplastic Syndromes, Myelodysplastic/Myeloproliferative Diseases
Interventions
anti-thymocyte globulin, busulfan, cyclophosphamide, melphalan, methylprednisolone, bone marrow ablation with stem cell support, umbilical cord blood transplantation, radiation therapy
Biological · Drug · Procedure + 1 more
Lead sponsor
Case Comprehensive Cancer Center
Other
Eligibility
Up to 55 Years
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2006
U.S. locations
1
States / cities
Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Jun 11, 2010 · Synced Oct 14, 2026, 1:20 PM EDT
Terminated No phase listed Observational Accepts healthy volunteers

Diabetes/ Endocrine Surveillance in SDS

NCT04275479
View directory record Official record
Conditions
Shwachman-Diamond Syndrome
Interventions
Oral Glucose Tolerance Test, Modified Oral Glucose Tolerance Test, Modified Mixed Meal Tolerance Test, Continuous Glucose Monitor, Food Diary, Medical History Questionnaires
Diagnostic Test · Other · Device
Lead sponsor
Washington University School of Medicine
Other
Eligibility
3 Years and older
Enrollment
11 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2022
U.S. locations
1
States / cities
St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Aug 19, 2024 · Synced Oct 14, 2026, 1:20 PM EDT
Recruiting Phase 2Phase 3 Interventional

Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH

NCT02716246
View directory record Official record
Conditions
MPS IIIA, Sanfilippo Syndrome, Sanfilippo A, Mucopolysaccharidosis III
Interventions
UX111, Prophylactic Immunomodulatory (IM) Therapy, Optimized Prophylactic IM Therapy, Adjuvant IM Therapy
Biological · Drug
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
Not listed
Enrollment
36 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2029
U.S. locations
2
States / cities
Columbus, Ohio • Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Sep 22, 2026 · Synced Oct 14, 2026, 1:20 PM EDT
Completed Not applicable Interventional Results available

Repeated Eye Injections of Aflibercept for Treatment of Wet Age Related Macular Degeneration

NCT01773954
View directory record Official record
Conditions
Age-Related Macular Degeneration, Macular Degeneration
Interventions
Intravitreal Aflibercept Injection
Drug
Lead sponsor
MidAtlantic Retina
Other
Eligibility
18 Years and older
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2016
U.S. locations
3
States / cities
Cherry Hill, New Jersey • Huntingdon Valley, Pennsylvania • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated May 2, 2018 · Synced Oct 14, 2026, 1:20 PM EDT
Completed Phase 2 Interventional Results available

A Safety, Tolerability, and Efficacy Study of BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease

NCT02678689
View directory record Official record
Conditions
Jansky-Bielschowsky Disease, Batten Disease, Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2, CLN2 Disease, CLN2 Disorder
Interventions
BMN 190 recombinant human tripeptidyl peptidase-1 (rhTPP1), Intracerebroventricular access device
Biological · Device
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
Up to 17 Years
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2022
U.S. locations
1
States / cities
Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Feb 17, 2025 · Synced Oct 14, 2026, 1:20 PM EDT
Recruiting No phase listed Observational

Krabbe Disease Global Patient Registry

NCT02993796
View directory record Official record
Conditions
Krabbe Disease
Interventions
Not listed
Lead sponsor
State University of New York at Buffalo
Other
Eligibility
Not listed
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2026
U.S. locations
1
States / cities
Buffalo, New York
Source: ClinicalTrials.gov public record
Updated Jul 17, 2026 · Synced Oct 14, 2026, 1:20 PM EDT
Withdrawn No phase listed Observational

A Pilot Study to Explore the Role of Gut Flora in Gout

NCT04224662
View directory record Official record
Conditions
Gout
Interventions
No intervention
Other
Lead sponsor
ProgenaBiome
Other
Eligibility
Not listed
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2030
U.S. locations
1
States / cities
Ventura, California
Source: ClinicalTrials.gov public record
Updated Jun 5, 2025 · Synced Oct 14, 2026, 1:20 PM EDT
Completed No phase listed Observational

Stress, Hypothalamic-pituitary-adrenal (HPA) Dysfunction, and Relapse in Alcoholism

NCT00744588
View directory record Official record
Conditions
Alcohol Dependence
Interventions
Not listed
Lead sponsor
University of Texas Southwestern Medical Center
Other
Eligibility
18 Years to 60 Years · Male only
Enrollment
75 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2012
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Jan 3, 2013 · Synced Oct 14, 2026, 1:20 PM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Screening of Lysosomal Storage Disorders Diseases in Minority Groups

NCT03812042
View directory record Official record
Conditions
Lysosomal Storage Diseases
Interventions
Enzyme assay and molecular sequencing
Diagnostic Test
Lead sponsor
Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Other
Eligibility
Not listed
Enrollment
100,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2019
U.S. locations
1
States / cities
Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Jan 22, 2019 · Synced Oct 14, 2026, 1:20 PM EDT
Completed Phase 4 Interventional Results available

Examining the Effect of Burosumab on Muscle Function

NCT04146935
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Aug 24, 2023 · Synced Oct 14, 2026, 1:20 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Demographic, Metabolic, and Genomic Description of Neonates With Severe Hyperbilirubinemia

NCT00383318
View directory record Official record
Conditions
Hyperbilirubinemia, Jaundice
Interventions
Gene mutation sample
Procedure
Lead sponsor
Pediatrix
Other
Eligibility
Up to 6 Days
Enrollment
450 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2006 – 2007
U.S. locations
1
States / cities
Greenville, South Carolina
Source: ClinicalTrials.gov public record
Updated Jan 28, 2008 · Synced Oct 14, 2026, 1:20 PM EDT
Completed No phase listed Observational

Study of the Pathogenesis of Porphyria Cutanea Tarda

NCT00005103
View directory record Official record
Conditions
Porphyria Cutanea Tarda
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
120 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2000
U.S. locations
1
States / cities
Galveston, Texas
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 14, 2026, 1:20 PM EDT
Completed Phase 2 Interventional

A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II

NCT00051935
View directory record Official record
Conditions
Glycogen Storage Disease Type II, Pompe Disease, Acid Maltase Deficiency Disease, Glycogenosis 2
Interventions
Alglucosidase alfa
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
Not listed
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003
U.S. locations
1
States / cities
New Brunswick, New Jersey
Source: ClinicalTrials.gov public record
Updated Feb 5, 2014 · Synced Oct 14, 2026, 1:20 PM EDT
Completed Phase 3 Interventional Results available

Re-exposure Study of Pegloticase Intravenous (i.v.) in Symptomatic Gout Patients

NCT00675103
View directory record Official record
Conditions
Chronic Gout Refractory to Conventional Therapy
Interventions
pegloticase 8 mg i.v.
Drug
Lead sponsor
Savient Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2009
U.S. locations
4
States / cities
Chicago, Illinois • Wheaton, Maryland • Durham, North Carolina + 1 more
Source: ClinicalTrials.gov public record
Updated Jun 28, 2011 · Synced Oct 14, 2026, 1:20 PM EDT
Suspended No phase listed Observational Accepts healthy volunteers

A Non-Interventional Pilot Study to Explore the Role of Gut Flora in Disease

NCT04031469
View directory record Official record
Conditions
Gut Microbiome, Gastrointestinal Microbiome, Autism, Autism Spectrum Disorder, Autism Spectrum Disorder High-Functioning, Alzheimer Disease, Alzheimer Dementia (AD), Alzheimer Dementia, Alzheimer Disease (AD), Crohn, Crohn Colitis, Crohn Disease (CD), Crohn Disease Colon, Myalgic Encephalomyelitis, ME/CFS, Myalgic Encephalomyelitis (ME), Myalgic Encephalomyelitis/Chronic Fatigue Syndrome, Psoriasis, Psoriasis Annularis, Psoriasis Chronic, Chronic Urinary Tract Infection, Ulcerative Colitis (Disorder), Ulcerative Colitis (UC), Ulcerative Colitis Acute, Ulcerative Colitis Chronic, Multiple Sclerosis, Multiple Sclerosis (MS) - Relapsing-remitting, Multiple Sclerosis (MS) Primary Progressive, Constipation Chronic Idiopathic, Constipation, Celiac, Celiac Disease, Celiac Sprue, Lyme Arthritis, Lyme Borreliosis, Nervous System, Lyme Disease, Chronic, Cholesterol, Cholesterol Level, High, Cancer, Colon Cancer, Amyotrophic Lateral Sclerosis (ALS), Amyotrophic Lateral Sclerosis, Rheumatoid Arthritis (RA), Rheumatoid Arthritis - Rheumatism, Chronic Fatigue Syndrome (CFS), PARKINSON DISEASE (Disorder), Parkinson Disease, Parkinson Disease (PD), Depression, Major Depressive Disorder (MDD), Depression Disorder, Depression in Adults, Anxiety, Anxiety Disorder Generalized, Obsessive Compulsive Disorder (OCD), Obsessive Compulsive Disorder OCD, Obsessive - Compulsive Disorder, Bipolar, Bipolar 1 Disorder, Bipolar Disorder (BD), Bipolar Disorder I and II, Bipolar and Related Disorders, Migraine, Migraine Disorder, Diabetes (DM), Diabetes, Lupus, Lupus Erythematosus, Epidermolysis Bullosa (EB), Mesothelioma, Mesothelioma Malignant, IBS (Irritable Bowel Syndrome), Irritable Bowel, IBS - Irritable Bowel Syndrome, Irritable Bowel Syndrome (IBS), Eczema, Eczema Atopic Dermatitis, Acne, Myasthaenia Gravis, Gout
Interventions
There is no intervention in this study
Other
Lead sponsor
ProgenaBiome
Other
Eligibility
12 Years and older
Enrollment
1,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2030
U.S. locations
1
States / cities
Ventura, California
Source: ClinicalTrials.gov public record
Updated Sep 21, 2026 · Synced Oct 14, 2026, 1:20 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Evaluation of GIMate Handheld Hydrogen Breath Monitor for Diagnosis of Lactose Malabsorption

NCT04754724
View directory record Official record
Conditions
Lactose Intolerance
Interventions
GIMate, H2 Check
Diagnostic Test
Lead sponsor
Vivante Health
Industry
Eligibility
18 Years to 55 Years
Enrollment
31 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Sep 28, 2021 · Synced Oct 14, 2026, 1:20 PM EDT
Recruiting Phase 1Phase 2 Interventional

Study of LNP.UCD.ABE in Patients With Urea Cycle Disorders

NCT07667387
View directory record Official record
Conditions
Urea Cycle Disorders, Carbamoyl-Phosphate Synthase I Deficiency
Interventions
LNP.UCD.ABE
Biological
Lead sponsor
Rebecca Ahrens-Nicklas
Other
Eligibility
24 Hours to 5 Years
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Aug 26, 2026 · Synced Oct 14, 2026, 1:20 PM EDT
Completed Not applicable Interventional

A Randomized Controlled Study of the Efficacy and Safety of Maintenance Treatment With Oral Ganciclovir for Newly Diagnosed Cytomegalovirus Retinitis in People With AIDS

NCT00002257
View directory record Official record
Conditions
Cytomegalovirus Retinitis, HIV Infections
Interventions
Ganciclovir
Drug
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
13 Years and older
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
12
States / cities
Berkeley, California • San Francisco, California • Washington D.C., District of Columbia + 6 more
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 14, 2026, 1:20 PM EDT