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ClinicalTrials.gov public records Last synced Oct 7, 2026, 6:24 AM EDT

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Showing 97–120 of 2,406 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Inherited Metabolic Disease Clear all
Completed No phase listed Observational

Kidney Transplantation in Patients With Cystinosis

NCT00074516
View directory record Official record
Conditions
Cystinosis
Interventions
Not listed
Lead sponsor
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
NIH
Eligibility
7 Years and older
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2014
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 6, 2017 · Synced Oct 7, 2026, 6:24 AM EDT
Recruiting No phase listed Observational

GSD VI and GSD IX Natural History

NCT04454216
View directory record Official record
Conditions
Glycogen Storage Disease VI, GLYCOGEN STORAGE DISEASE IXa1, GLYCOGEN STORAGE DISEASE IXa2, Glycogen Storage Disease IXB, Glycogen Storage Disease IXC, GSD 9 (All Subtypes), GSD 6
Interventions
No intervention
Other
Lead sponsor
Duke University
Other
Eligibility
0 Years to 90 Years
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2030
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated May 5, 2026 · Synced Oct 7, 2026, 6:24 AM EDT
Terminated No phase listed Observational

Natural History Study to Characterise the Course of Disease Progression in Participants With Mucopolysaccharidosis Type IIIB

NCT02293408
View directory record Official record
Conditions
MPS IIIB (Sanfilippo B Syndrome)
Interventions
Not listed
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
1 Year and older
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2017
U.S. locations
2
States / cities
Minneapolis, Minnesota • Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Sep 13, 2018 · Synced Oct 7, 2026, 6:24 AM EDT
Completed Phase 1 Interventional

A Pilot Study of Metformin in Patients With a Diagnosis of Li-Fraumeni Syndrome

NCT01981525
View directory record Official record
Conditions
Li-Fraumeni Syndrome
Interventions
Metformin
Drug
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Enrollment
26 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2020
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 14, 2020 · Synced Oct 7, 2026, 6:24 AM EDT
Recruiting No phase listed Observational

Ovarian Tissue Cryopreservation in Pre-Pubertal (OTC-Pre Pubertal)

NCT05299710
View directory record Official record
Conditions
Cancers
Interventions
Laparoscopic surgery
Procedure
Lead sponsor
Erin Rowell
Other
Eligibility
Up to 11 Years · Female only
Enrollment
250 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2035
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Sep 3, 2026 · Synced Oct 7, 2026, 6:24 AM EDT
Enrolling by invitation No phase listed Observational

Registry of Patients With Hypophosphatasia

NCT02306720
View directory record Official record
Conditions
Hypophosphatasia (HPP)
Interventions
Not listed
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
Not listed
Enrollment
1,571 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2031
U.S. locations
20
States / cities
Centennial, Colorado • Hartford, Connecticut • Tampa, Florida + 16 more
Source: ClinicalTrials.gov public record
Updated Sep 4, 2026 · Synced Oct 7, 2026, 6:24 AM EDT
Completed Not applicable Interventional

A Collection of Case Studies in Infants With UCD to Evaluate Infant Growth and the Safety of a New Medical Food for UCD

NCT03911089
View directory record Official record
Conditions
Urea Cycle Disorder, Inborn Errors of Metabolism
Interventions
UCD Anamix Infant
Other
Lead sponsor
Nutricia Research
Industry
Eligibility
Up to 30 Days
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2019
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Dec 9, 2021 · Synced Oct 7, 2026, 6:24 AM EDT
Not listed No phase listed Observational

Patients Treated for SCID (1968-Present)

NCT01346150
View directory record Official record
Conditions
SCID, ADA-SCID, XSCID, Leaky SCID, Omenn Syndrome, Reticular Dysgenesis
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
Not listed
Enrollment
1,007 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2023
U.S. locations
31
States / cities
Birmingham, Alabama • Los Angeles, California • Palo Alto, California + 26 more
Source: ClinicalTrials.gov public record
Updated Nov 12, 2020 · Synced Oct 7, 2026, 6:24 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Korean Translation and Validation of the K-HEPI in NYC

NCT05544578
View directory record Official record
Conditions
Disaster, Vulnerable Populations
Interventions
Nurses Taking On Readiness Measures (N- TORM)
Behavioral
Lead sponsor
Hunter College of City University of New York
Other
Eligibility
18 Years and older
Enrollment
400 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2024
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Aug 15, 2024 · Synced Oct 7, 2026, 6:24 AM EDT
Completed Phase 1Phase 2 Interventional Results available

Effect of Exendin-(9-39) on Fasting Adaptation and Protein Sensitivity

NCT00897676
View directory record Official record
Conditions
Congenital Hyperinsulinism
Interventions
Exendin-(9-39), placebo
Drug
Lead sponsor
Diva De Leon
Other
Eligibility
6 Months to 18 Years
Enrollment
17 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2017
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Mar 13, 2020 · Synced Oct 7, 2026, 6:24 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

MRI Spectroscopy and Neuropsychological Functioning in Phenylketonuria

NCT03097250
View directory record Official record
Conditions
Phenylketonuria
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
12 Years to 25 Years
Enrollment
10 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2018
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Oct 19, 2018 · Synced Oct 7, 2026, 6:24 AM EDT
Not listed Phase 4 Interventional Accepts healthy volunteers

Interrogating Fatty Acid Metabolism Impairment and Clinical Correlates in Males with Klinefelter Syndrome

NCT05498090
View directory record Official record
Conditions
Klinefelter Syndrome
Interventions
Fenofibrate 145 mg
Drug
Lead sponsor
University of Colorado, Denver
Other
Eligibility
15 Years to 40 Years · Male only
Enrollment
44 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2025
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Oct 16, 2024 · Synced Oct 7, 2026, 6:24 AM EDT
Completed No phase listed Observational

Pharmacokinetics of Understudied Drugs Administered to Children Per Standard of Care

NCT01431326
View directory record Official record
Conditions
Adenovirus, Anesthesia, Anxiety, Anxiolysis, Autism, Autistic Disorder, Bacterial Meningitis, Bacterial Septicemia, Benzodiazepine, Bipolar Disorder, Bone and Joint Infections, Central Nervous System Infections, Convulsions, Cytomegalovirus Retinitis, Early-onset Schizophrenia Spectrum Disorders, Epilepsy, General Anesthesia, Gynecologic Infections, Herpes Simplex Virus, Infantile Hemangioma, Infection, Inflammation, Inflammatory Conditions, Intra-abdominal Infections, Lower Respiratory Tract Infections, Migraines, Pain, Pneumonia, Schizophrenia, Sedation, Seizures, Skeletal Muscle Spasms, Skin and Skin-structure Infections, Treatment-resistant Schizophrenia, Urinary Tract Infections, Withdrawal, Sepsis, Gram-negative Infection, Bradycardia, Cardiac Arrest, Cardiac Arrhythmia, Staphylococcal Infections, Nosocomial Pneumonia, Neuromuscular Blockade, Methicillin Resistant Staphylococcus Aureus, Endocarditis, Neutropenia, Headache, Fibrinolytic Bleeding, Pulmonary Arterial Hypertension, CMV Retinitis, Hypertension, Chronic Kidney Diseases, Hyperaldosteronism, Hypokalemia, Heart Failure, Hemophilia, Heavy Menstrual Bleeding, Insomnia
Interventions
The POPS study is collecting PK data on children prescribed the following drugs of interest per standard of care:
Drug
Lead sponsor
Daniel Benjamin
Other
Eligibility
Up to 21 Years
Enrollment
3,520 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2019
U.S. locations
43
States / cities
Anchorage, Alaska • Little Rock, Arkansas • La Jolla, California + 37 more
Source: ClinicalTrials.gov public record
Updated Sep 6, 2023 · Synced Oct 7, 2026, 6:24 AM EDT
Completed Phase 3 Interventional Results available

PLUTO: Pediatric Lipid-redUction Trial of rOsuvastatin

NCT00355615
View directory record Official record
Conditions
Familial Hypercholesterolemia
Interventions
Rosuvastatin, Placebo
Drug
Lead sponsor
AstraZeneca
Industry
Eligibility
10 Years to 17 Years
Enrollment
173 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2008
U.S. locations
4
States / cities
Los Angeles, California • Hyde Park, New York • Cincinnati, Ohio + 1 more
Source: ClinicalTrials.gov public record
Updated Aug 31, 2011 · Synced Oct 7, 2026, 6:24 AM EDT
Completed Phase 4 Interventional Accepts healthy volunteers Results available

Imaging Cardiac Amyloidosis: A Pilot Study Using F-18 Florbetapir Positron Emission Tomography

NCT01683825
View directory record Official record
Conditions
Cardiac Amyloidosis
Interventions
F-18 florbetapir PET
Drug
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
18 Years and older
Enrollment
23 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2018
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Nov 20, 2025 · Synced Oct 7, 2026, 6:24 AM EDT
Completed Phase 3 Interventional Results available

A Two-Period Open-label Trial Evaluating Efficacy and Safety of Dasiglucagon in Children With Congenital Hyperinsulinism

NCT03777176
View directory record Official record
Conditions
Congenital Hyperinsulinism
Interventions
Dasiglucagon, Standard of Care
Drug · Other
Lead sponsor
Zealand Pharma
Industry
Eligibility
3 Months to 12 Years
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2020
U.S. locations
3
States / cities
Aurora, Colorado • Philadelphia, Pennsylvania • Fort Worth, Texas
Source: ClinicalTrials.gov public record
Updated Dec 13, 2023 · Synced Oct 7, 2026, 6:24 AM EDT
Terminated Phase 2 Interventional Results available

A Study of Patidegib Topical Gel, 2%, for the Reduction of Disease Burden of Persistently Developing Basal Cell Carcinomas in Patients With Non-Gorlin High Frequency BCC

NCT04155190
View directory record Official record
Conditions
Recurrent Basal Cell Carcinoma
Interventions
Patidegib Topical Gel, 2%, Patidegib Topical Gel, Vehicle
Drug
Lead sponsor
Sol-Gel Technologies, Ltd.
Industry
Eligibility
18 Years and older
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2021
U.S. locations
14
States / cities
Apple Valley, California • Colton, California • Fremont, California + 11 more
Source: ClinicalTrials.gov public record
Updated Jul 21, 2026 · Synced Oct 7, 2026, 6:24 AM EDT
Completed Not applicable Interventional

Music in Reducing Anxiety and Pain in Adult Patients Undergoing Bone Marrow Biopsy for Hematologic Cancers or Other Diseases

NCT00376922
View directory record Official record
Conditions
Chronic Myeloproliferative Disorders, Leukemia, Lymphoma, Lymphoproliferative Disorder, Multiple Myeloma and Plasma Cell Neoplasm, Myelodysplastic Syndromes, Myelodysplastic/Myeloproliferative Neoplasms, Pain, Precancerous Condition, Psychosocial Effects of Cancer and Its Treatment
Interventions
music therapy
Procedure
Lead sponsor
Wake Forest University Health Sciences
Other
Eligibility
18 Years to 120 Years
Enrollment
65 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2010
U.S. locations
1
States / cities
Winston-Salem, North Carolina
Source: ClinicalTrials.gov public record
Updated May 30, 2017 · Synced Oct 7, 2026, 6:24 AM EDT
Active, not recruiting Phase 2 Interventional Results available

Eltrombopag for Fanconi Anemia

NCT03206086
View directory record Official record
Conditions
Fanconi Anemia
Interventions
Eltrombopag
Drug
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
6 Years to 99 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2028
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 16, 2026 · Synced Oct 7, 2026, 6:24 AM EDT
Terminated Phase 2 Interventional Results available

Extension Study for Patients Who Have Participated in a BMN 701 Study

NCT01435772
View directory record Official record
Conditions
Pompe Disease
Interventions
BMN 701
Biological
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
13 Years and older
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2016
U.S. locations
4
States / cities
San Diego, California • Gainesville, Florida • Tampa, Florida + 1 more
Source: ClinicalTrials.gov public record
Updated May 22, 2018 · Synced Oct 7, 2026, 6:24 AM EDT
Enrolling by invitation Not applicable Interventional

Penn Family Screening for Familial Hypercholesterolemia

NCT05750667
View directory record Official record
Conditions
Familial Hypercholesterolemia
Interventions
Cascade screening
Behavioral
Lead sponsor
Northwestern University
Other
Eligibility
18 Years and older
Enrollment
800 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Feb 9, 2026 · Synced Oct 7, 2026, 6:24 AM EDT
Completed Not applicable Interventional

Ohio Colorectal Cancer Prevention Initiative

NCT01850654
View directory record Official record
Conditions
Lynch Syndrome, Colorectal Cancer
Interventions
LS tumor screening, Genetic testing, Genetic Counseling, Biorepository, Questionnaire
Genetic · Behavioral · Other
Lead sponsor
Ohio State University Comprehensive Cancer Center
Other
Eligibility
18 Years and older
Enrollment
3,470 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2018
U.S. locations
49
States / cities
Akron, Ohio • Barberton, Ohio • Batavia, Ohio + 29 more
Source: ClinicalTrials.gov public record
Updated Jun 28, 2018 · Synced Oct 7, 2026, 6:24 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Cerebral Anatomy, Hemodynamics and Metabolism

NCT02919956
View directory record Official record
Conditions
Hypoplastic Left Heart Syndrome
Interventions
Magnetic Resonance Imaging, Neurodevelopmental Testing
Other
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
3 Years and older
Enrollment
121 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2022
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Dec 18, 2024 · Synced Oct 7, 2026, 6:24 AM EDT
Withdrawn No phase listed Observational

Evaluating the Cologuard Test for Use in Lynch Syndrome

NCT04778566
View directory record Official record
Conditions
Lynch Syndrome, Colorectal Cancer, Colonic Adenoma, Colonic Polyp
Interventions
Cologuard test
Diagnostic Test
Lead sponsor
Geisinger Clinic
Other
Eligibility
18 Years to 89 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2022
U.S. locations
1
States / cities
Danville, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Nov 17, 2021 · Synced Oct 7, 2026, 6:24 AM EDT