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ClinicalTrials.gov public records Last synced Oct 24, 2026, 5:30 AM EDT

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Showing 241–264 of 2,421 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Metabolic Abnormalities Clear all
Completed Phase 3 Interventional Results available

Study to Evaluate Patients With Cerebrotendinous Xanthomatosis (RESTORE)

NCT04270682
View directory record Official record
Conditions
CTX
Interventions
Blinded CDCA 250 mg TID, Placebo, Open-Label CDCA 250 mg TID, Rescue Medication CDCA 250 mg TID, CDCA Weight-Based Dose TID
Drug
Lead sponsor
Mirum Pharmaceuticals, Inc.
Industry
Eligibility
1 Month and older
Enrollment
19 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2023
U.S. locations
9
States / cities
Aurora, Colorado • Orlando, Florida • Iowa City, Iowa + 5 more
Source: ClinicalTrials.gov public record
Updated Oct 28, 2024 · Synced Oct 24, 2026, 5:30 AM EDT
Completed Not applicable Interventional

Ganciclovir: Compassionate Use in Patients With Serious or Life-Threatening Cytomegalovirus Infections

NCT00002024
View directory record Official record
Conditions
Cytomegalovirus Infections, HIV Infections
Interventions
Ganciclovir
Drug
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
18 Years and older
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
1
States / cities
Palo Alto, California
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 24, 2026, 5:30 AM EDT
Recruiting No phase listed Observational

Determine the Prevalence of Exocrine Pancreatic Insufficiency (EPI) in Pediatric and Adult Participants With Alagille Syndrome After Liver Transplantation

NCT07335523
View directory record Official record
Conditions
Exocrine Pancreatic Insuficiency
Interventions
Fecal Fat
Diagnostic Test
Lead sponsor
Digestive Care, Inc.
Industry
Eligibility
7 Years to 50 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
8
States / cities
Aurora, Colorado • New York, New York • Cincinnati, Ohio + 5 more
Source: ClinicalTrials.gov public record
Updated Oct 13, 2026 · Synced Oct 24, 2026, 5:30 AM EDT
Terminated Early Phase 1 Interventional

Tislelizumab for the Treatment of Recurrent Mismatch Repair Deficient Endometrial Cancer

NCT04906382
View directory record Official record
Conditions
Lynch Syndrome, Recurrent Endometrial Carcinoma, Recurrent Endometrial Clear Cell Adenocarcinoma, Recurrent Uterine Corpus Carcinosarcoma, Mismatch Repair Deficiency, Recurrent Endometrial Cancer, Metastatic Endometrial Cancer
Interventions
Biopsy, Carboplatin, Paclitaxel, Tislelizumab
Procedure · Drug · Biological
Lead sponsor
Floor Backes, MD
Other
Eligibility
18 Years and older · Female only
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2022
U.S. locations
1
States / cities
Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Feb 13, 2025 · Synced Oct 24, 2026, 5:30 AM EDT
Completed No phase listed Observational Results available

Cerebrotendinous Xanthomatosis (CTX) Prevalence Study

NCT02638220
View directory record Official record
Conditions
Cerebrotendinous Xanthomatosis (CTX)
Interventions
Not listed
Lead sponsor
Travere Therapeutics, Inc.
Industry
Eligibility
2 Years to 21 Years
Enrollment
442 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2021
U.S. locations
44
States / cities
Birmingham, Alabama • La Jolla, California • Los Angeles, California + 38 more
Source: ClinicalTrials.gov public record
Updated Sep 19, 2024 · Synced Oct 24, 2026, 5:30 AM EDT
Recruiting No phase listed Observational

MEHMO Natural History and Biomarkers

NCT06019182
View directory record Official record
Conditions
Intellectual Disability, Epilepsy, Hypogonadisms, Microcephaly, Nervous System Malformations, Obesity
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
1 Week to 100 Years
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2053
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jun 25, 2026 · Synced Oct 24, 2026, 5:30 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia

NCT02890342
View directory record Official record
Conditions
Metabolic Disease, Propionic Acidemia, Organic Acidemia
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month to 100 Years
Enrollment
1,045 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2036
U.S. locations
2
States / cities
Bethesda, Maryland • Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Oct 16, 2026 · Synced Oct 24, 2026, 5:30 AM EDT
Not listed No phase listed Observational

The Natural History of Danon Disease

NCT03766386
View directory record Official record
Conditions
Danon Disease
Interventions
Not listed
Lead sponsor
University of California, San Diego
Other
Eligibility
0 Years to 100 Years
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2024
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated May 12, 2022 · Synced Oct 24, 2026, 5:30 AM EDT
Completed Phase 1 Interventional

Bone Marrow Cell Gene Transfer in Individuals With Fanconi Anemia

NCT00272857
View directory record Official record
Conditions
Fanconi Anemia
Interventions
Retrovirus Construct
Genetic
Lead sponsor
Boston Children's Hospital
Other
Eligibility
1 Year to 35 Years
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2007
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Jun 23, 2017 · Synced Oct 24, 2026, 5:30 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Tweens to Teens Project at Penn State

NCT01184651
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia
Interventions
Questionnaires/Interviews
Behavioral
Lead sponsor
Penn State University
Other
Eligibility
10 Years to 13 Years · Female only
Enrollment
188 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2013
U.S. locations
1
States / cities
University Park, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jan 8, 2018 · Synced Oct 24, 2026, 5:30 AM EDT
Completed No phase listed Observational

Awareness, Care, and Treatment In Obesity Management of Patients With Hemophilia (ACTION) to Inform Hemophilia Obesity Patient Empowerment (HOPE)

NCT03430154
View directory record Official record
Conditions
Haemophilia A, Haemophilia B, Obesity
Interventions
No treatment given
Other
Lead sponsor
Novo Nordisk A/S
Industry
Eligibility
18 Years and older
Enrollment
317 participants
Timeline
2017 – 2018
U.S. locations
1
States / cities
Plainsboro, New Jersey
Source: ClinicalTrials.gov public record
Updated Sep 5, 2018 · Synced Oct 24, 2026, 5:30 AM 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 24, 2026, 5:30 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

PET Scans in Normal Volunteers and Patients With Fabry Disease

NCT00005111
View directory record Official record
Conditions
Fabry Disease, Healthy
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
Male only
Enrollment
24 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2000 – 2001
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 4, 2008 · Synced Oct 24, 2026, 5:30 AM EDT
Completed No phase listed Observational

Determination of the Pathophysicologic Collagen Changes in the Diabetic Achilles Tendon

NCT01382628
View directory record Official record
Conditions
Diabetic Foot Ulcers, Equinus Deformity
Interventions
Not listed
Lead sponsor
Georgetown University
Other
Eligibility
18 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2019
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated Aug 20, 2019 · Synced Oct 24, 2026, 5:30 AM EDT
Completed Phase 1Phase 2 Interventional Results available

Safety and Dose-Finding Study of DTX301 (scAAV8OTC) in Adults With Late-Onset Ornithine Transcarbamylase (OTC) Deficiency

NCT02991144
View directory record Official record
Conditions
Ornithine Transcarbamylase (OTC) Deficiency
Interventions
scAAV8OTC, Reactive Corticosteroid Taper Regimen, Prophylactic Corticosteroid Taper Regimen
Genetic · Drug
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
18 Years and older
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2021
U.S. locations
4
States / cities
Aurora, Colorado • Boston, Massachusetts • New York, New York + 1 more
Source: ClinicalTrials.gov public record
Updated Jan 26, 2023 · Synced Oct 24, 2026, 5:30 AM EDT
Completed No phase listed Observational

Developing Newborn Screening for Infants With Primary Immunodeficiency

NCT00113464
View directory record Official record
Conditions
Immune System Diseases
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Not listed
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2007
U.S. locations
1
States / cities
New Haven, Connecticut
Source: ClinicalTrials.gov public record
Updated Jul 2, 2017 · Synced Oct 24, 2026, 5:30 AM EDT
Completed Phase 2 Interventional Results available

Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency

NCT00355264
View directory record Official record
Conditions
Tetrahydrobiopterin Deficiencies, Hyperphenylalaninemia, Non-Phenylketonuric
Interventions
Phenoptin
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
Not listed
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2009
U.S. locations
9
States / cities
Los Angeles, California • Chicago, Illinois • Minneapolis, Minnesota + 6 more
Source: ClinicalTrials.gov public record
Updated Sep 25, 2020 · Synced Oct 24, 2026, 5:30 AM EDT
Recruiting No phase listed Observational

PheCheck™ Validation Study

NCT07551921
View directory record Official record
Conditions
Phenylketonuria (PKU) and Hyperphenylalaninemia
Interventions
PheCheck, Dried Blood Spot Cards.
Device · Diagnostic Test
Lead sponsor
Aptatek BioSciences, Inc
Industry
Eligibility
1 Year and older
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2027
U.S. locations
2
States / cities
Chicago, Illinois • Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Aug 25, 2026 · Synced Oct 24, 2026, 5:30 AM EDT
Completed Phase 2 Interventional Results available

Drug-drug Interaction Study

NCT01380743
View directory record Official record
Conditions
Pompe Disease
Interventions
duvoglustat, rhGAA
Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
18 Years to 65 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2013
U.S. locations
11
States / cities
Phoenix, Arizona • Scottsdale, Arizona • Orange, California + 8 more
Source: ClinicalTrials.gov public record
Updated Jun 26, 2025 · Synced Oct 24, 2026, 5:30 AM EDT
Completed Phase 1 Interventional

Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1)

NCT02939547
View directory record Official record
Conditions
Niemann-Pick Disease, Type C1
Interventions
Hydroxypropyl-beta-cyclodextrin
Drug
Lead sponsor
Cyclo Therapeutics, Inc.
Industry
Eligibility
18 Years and older
Enrollment
13 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2020
U.S. locations
2
States / cities
Oakland, California • Morristown, New Jersey
Source: ClinicalTrials.gov public record
Updated Feb 21, 2021 · Synced Oct 24, 2026, 5:30 AM EDT
Enrolling by invitation No phase listed Observational Accepts healthy volunteers

COR-INSIGHT: Optimizing Cardiovascular and Cardiopulmonary Outcomes with AI-Driven Multiplexed Indications Using COR ECG Wearable

NCT06763549
View directory record Official record
Conditions
Cardiopulmonary Failure, Myocardial Infarction (MI), Heart Decompensation, Heart Failure, HFrEF - Heart Failure with Reduced Ejection Fraction, HFpEF - Heart Failure with Preserved Ejection Fraction, Syncopation, Syncope, Ischemic Cardiovascular Disease, STEMI, STEMI (ST Elevation MI), Atrial Fibrillation (AF), Atrial Enlargement, LVF, Conduction Defect, Conduction Abnormalities, Heart Block, Valvular Diseases, Cardiac Output, Low, Stroke Volume, Stroke Volume Variation, Hyperkalemia, Hypercalcemia, Hypocalcemia, LV Dysfunction, QT Prolongation, Sudden Cardiac Death Due to Cardiac Arrhythmia, Ventricular Arrhythmia, Pacing, Pacing Induced Dyssynchrony, Silent Ischemia, Pericarditis, Sleep Related Breathing Disorder, RSA, Apnea, Obstructive, Cardiac Output Measurement, Respiratory Impedance, CRT And/or ICD, Infarction, Cardiomyopathies, Primary, Hypertrophy
Interventions
SUBPROTOCOL A, SUBPROTOCOL B, SUBPROTOCOL C, SUBPROTOCOL D, SUBPROTOCOL E, SUBPROTOCOL F, SUBPROTOCOL G, SUBPROTOCOL H
Device
Lead sponsor
Peerbridge Health, Inc
Industry
Eligibility
18 Years and older
Enrollment
15,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2026
U.S. locations
1
States / cities
Melbourne, Florida
Source: ClinicalTrials.gov public record
Updated Jan 8, 2025 · Synced Oct 24, 2026, 5:30 AM EDT
Active, not recruiting Not applicable Interventional

Feasibility Study: IGNITE-TX (Identifying Individuals for Genetic Testing & Treatment) Intervention

NCT05677048
View directory record Official record
Conditions
Gynecologic Cancer, Ovary Cancer, Pancreatic Cancer, Breast Cancer, Lynch Syndrome, Hereditary Breast and Ovarian Cancer Syndrome, Colon Cancer, Endometrial Cancer, Uterus Cancer
Interventions
Free genetic testing and counseling group, IGNITE-TX Group, IGNITE-TX and free genetic testing and counseling group
Behavioral
Lead sponsor
M.D. Anderson Cancer Center
Other
Eligibility
18 Years and older
Enrollment
205 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Sep 16, 2026 · Synced Oct 24, 2026, 5:30 AM EDT
Completed Phase 1 Interventional Results available

Safety and Pharmacology Study of VP 20629 in Adults With Friedreich's Ataxia

NCT01898884
View directory record Official record
Conditions
Friedreich's Ataxia
Interventions
VP 20629, Placebo
Drug
Lead sponsor
Shire
Industry
Eligibility
18 Years to 45 Years
Enrollment
46 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2015
U.S. locations
5
States / cities
Los Angeles, California • Tampa, Florida • Atlanta, Georgia + 2 more
Source: ClinicalTrials.gov public record
Updated Jun 2, 2021 · Synced Oct 24, 2026, 5:30 AM EDT
Completed No phase listed Observational

Iron Overload in African Americans

NCT00001455
View directory record Official record
Conditions
Hemochromatosis, Iron Overload
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Not listed
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1995 – 2000
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 4, 2008 · Synced Oct 24, 2026, 5:30 AM EDT