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ClinicalTrials.gov public records Last synced Nov 3, 2026, 2:03 PM EST

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Showing 1057–1080 of 10,353 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Congenital, Hereditary, and Neonatal Diseases and Abnormalities Clear all
Completed Phase 2 Interventional

Extension Study of Long-term Safety and Efficacy of Myozyme in Patients With Pompe Disease Who Were Previously Enrolled in Genzyme Sponsored Enzyme Replacement Therapy (ERT) Studies

NCT00763932
View directory record Official record
Conditions
Pompe Disease Infantile-Onset, Glycogen Storage Disease Type II
Interventions
Myozyme
Biological
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
18 Years and older
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2006
U.S. locations
5
States / cities
Oakland, California • Orange, California • Omaha, Nebraska + 2 more
Source: ClinicalTrials.gov public record
Updated Feb 5, 2014 · Synced Nov 3, 2026, 2:03 PM EST
Terminated Phase 1Phase 2 Interventional

Safety of a New Type of Treatment Called Gene Transfer for the Treatment of Severe Hemophilia B

NCT00076557
View directory record Official record
Conditions
Hemophilia B
Interventions
Adeno-Associated Viral with Human Factor IX
Genetic
Lead sponsor
Avigen
Industry
Eligibility
18 Years and older · Male only
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2004
U.S. locations
3
States / cities
Palo Alto, California • Philadelphia, Pennsylvania • Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Apr 4, 2007 · Synced Nov 3, 2026, 2:03 PM EST
Completed No phase listed Observational

Defining Immunodeficiency in Heterotaxy Syndrome: Pilot Study Data

NCT01929967
View directory record Official record
Conditions
Heterotaxy Syndrome
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Up to 12 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2014
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jun 27, 2014 · Synced Nov 3, 2026, 2:03 PM EST
Completed Phase 3 Interventional Results available

Efficacy Study of GS010 for the Treatment of Vision Loss up to 6 Months From Onset in LHON Due to the ND4 Mutation

NCT02652767
View directory record Official record
Conditions
Optic, Atrophy, Hereditary, Leber
Interventions
GS010, Sham Intravitreal Injection
Biological · Device
Lead sponsor
GenSight Biologics
Industry
Eligibility
15 Years and older
Enrollment
39 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2019
U.S. locations
3
States / cities
Los Angeles, California • Atlanta, Georgia • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Mar 2, 2026 · Synced Nov 3, 2026, 2:03 PM EST
Completed Phase 3 Interventional Results available

Study of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet

NCT00272792
View directory record Official record
Conditions
Phenylketonurias
Interventions
Sapropterin Dihydrochloride, Placebo
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
4 Years to 12 Years
Enrollment
45 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006
U.S. locations
9
States / cities
Los Angeles, California • Oakland, California • Sacramento, California + 6 more
Source: ClinicalTrials.gov public record
Updated Aug 13, 2015 · Synced Nov 3, 2026, 2:03 PM EST
Terminated No phase listed Observational

Chronic Graft-Versus-Host Disease in Patients Who Have Undergone Donor Stem Cell Transplant

NCT00957736
View directory record Official record
Conditions
Cancer
Interventions
polymorphism analysis, laboratory biomarker analysis
Genetic · Other
Lead sponsor
Vanderbilt-Ingram Cancer Center
Other
Eligibility
Not listed
Enrollment
252 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008
U.S. locations
3
States / cities
Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated May 14, 2013 · Synced Nov 3, 2026, 2:03 PM EST
Recruiting Phase 2 Interventional

A Phase 2 Trial of Dotinurad in Xanthine Oxidase Inhibitor (XOI) Intolerant/Uricase Failure Gout Participants

NCT07535034
View directory record Official record
Conditions
Gout
Interventions
Dotinurad, Placebo
Drug · Other
Lead sponsor
Crystalys Therapeutics
Industry
Eligibility
18 Years to 75 Years
Enrollment
90 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2027
U.S. locations
41
States / cities
Birmingham, Alabama • Phoenix, Arizona • Tucson, Arizona + 37 more
Source: ClinicalTrials.gov public record
Updated Sep 28, 2026 · Synced Nov 3, 2026, 2:03 PM EST
Terminated No phase listed Observational

Left Ventricular Aneurysms in Children

NCT00268034
View directory record Official record
Conditions
Congenital Disorders
Interventions
Not listed
Lead sponsor
Children's Healthcare of Atlanta
Other
Eligibility
Up to 21 Years
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2002
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated May 7, 2007 · Synced Nov 3, 2026, 2:03 PM EST
Not yet recruiting Phase 1 Interventional

NAD Augmentation to Prevent or Reverse Alzheimer's Disease in People With Down Syndrome

NCT07278492
View directory record Official record
Conditions
Down Syndrome (DS)
Interventions
MIB-626, Placebo
Drug
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
18 Years and older
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
2
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Aug 19, 2026 · Synced Nov 3, 2026, 2:03 PM EST
Completed Phase 2Phase 3 Interventional

Cognitive Behavior Therapy and Habit Reversal Training for the Treatment of Chronic Tic Disorders in Children

NCT00218777
View directory record Official record
Conditions
Tourette Syndrome, Tic Disorders
Interventions
Comprehensive Behavioral Intervention for Tics
Behavioral
Lead sponsor
Tourette Association of America
Other
Eligibility
9 Years to 17 Years
Enrollment
120 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2007
U.S. locations
3
States / cities
Los Angeles, California • Baltimore, Maryland • Milwaukee, Wisconsin
Source: ClinicalTrials.gov public record
Updated Dec 14, 2015 · Synced Nov 3, 2026, 2:03 PM EST
Completed No phase listed Observational Accepts healthy volunteers

Analyzing Retinal Microanatomy in ROP

NCT02887157
View directory record Official record
Conditions
Retinopathy of Prematurity, Neurodevelopmental Disorders, Macular Edema
Interventions
Swept Source OCT, Magnetic Resonance Imaging, Scavenged blood collection
Device · Other
Lead sponsor
Duke University
Other
Eligibility
30 Weeks and older
Enrollment
191 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2021
U.S. locations
4
States / cities
Gainesville, Florida • St Louis, Missouri • Durham, North Carolina + 1 more
Source: ClinicalTrials.gov public record
Updated Feb 10, 2023 · Synced Nov 3, 2026, 2:03 PM EST
Active, not recruiting No phase listed Observational Accepts healthy volunteers

The Bleeding Assessment Tool (BAT)

NCT07560007
View directory record Official record
Conditions
Bleeding Disorder, Von Willebrand Disease (VWD)
Interventions
Not listed
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
Not listed
Enrollment
1,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2027
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Apr 30, 2026 · Synced Nov 3, 2026, 2:03 PM EST
Not listed Phase 2 Interventional

Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin

NCT02696044
View directory record Official record
Conditions
Rett Syndrome
Interventions
triheptanoin
Drug
Lead sponsor
Center for Rare Neurological Diseases, Norcross, GA
Other
Eligibility
2 Years and older · Female only
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2022
U.S. locations
1
States / cities
Norcross, Georgia
Source: ClinicalTrials.gov public record
Updated Jul 17, 2020 · Synced Nov 3, 2026, 2:03 PM EST
Completed Phase 2 Interventional Results available

Trial Comparing the Effects of Intermittent Vismodegib vs. PDT in Patients With Multiple Basal Cell Carcinomas

NCT01556009
View directory record Official record
Conditions
Basal Cell Nevus Syndrome, Gorlin's Syndrome
Interventions
Vismodegib, Aminolevulinic acid %20 topical solution
Drug
Lead sponsor
UCSF Benioff Children's Hospital Oakland
Other
Eligibility
18 Years to 75 Years
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2015
U.S. locations
3
States / cities
Oakland, California • New York, New York
Source: ClinicalTrials.gov public record
Updated Nov 2, 2020 · Synced Nov 3, 2026, 2:03 PM EST
Withdrawn Not applicable Interventional

A Pilot Randomized Controlled Trial for Antibiotic Exposure in Neonatal Sepsis Using Neutrophil CD64

NCT01825421
View directory record Official record
Conditions
Neonatal Early-onset Sepsis, Neonatal Late-onset Sepsis
Interventions
Intervention is to stop antibiotics at 24h .
Other
Lead sponsor
Yale University
Other
Eligibility
1 Hour to 5 Months
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
1
States / cities
New Haven, Connecticut
Source: ClinicalTrials.gov public record
Updated Mar 30, 2020 · Synced Nov 3, 2026, 2:03 PM EST
Terminated Phase 1 Interventional Results available

Study to Compare Capsule and Liquid Formulations of Enzalutamide After Single Dose Administration Under Fasting Conditions in Prostate Cancer

NCT03478904
View directory record Official record
Conditions
Prostate Cancer
Interventions
Enzalutamide Liquid, Enzalutamide Capsule
Drug
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older · Male only
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated May 10, 2021 · Synced Nov 3, 2026, 2:03 PM EST
Completed Not applicable Interventional

Vascular Anomaly Pathology and Genomics Biopsy Study

NCT04836884
View directory record Official record
Conditions
Vascular Malformations, Vascular Anomaly, Hemangioma, Arteriovenous Malformations, Venous Malformation, Klippel Trenaunay Syndrome, Lymphatic Malformation
Interventions
Percutaneous Vascular Anomaly/Malformation Biopsy
Procedure
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years and older
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2022
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Apr 21, 2022 · Synced Nov 3, 2026, 2:03 PM EST
Recruiting Not applicable Interventional Accepts healthy volunteers

Chatbot to Maximize Hereditary Cancer Genetic Risk Assessment

NCT05562778
View directory record Official record
Conditions
Gynecologic Cancer, Hereditary Cancer Syndrome
Interventions
Chatbot
Other
Lead sponsor
Weill Medical College of Cornell University
Other
Eligibility
18 Years and older
Enrollment
150 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2027
U.S. locations
4
States / cities
Brooklyn, New York • New York, New York • Queens, New York
Source: ClinicalTrials.gov public record
Updated Jun 23, 2026 · Synced Nov 3, 2026, 2:03 PM EST
Completed No phase listed Observational

HD-Charge: Indirect and Out-of-Pocket Costs of Huntington's Disease in the United States

NCT03628235
View directory record Official record
Conditions
Huntington's Disease
Interventions
Online survey
Behavioral
Lead sponsor
CHDI Foundation, Inc.
Other
Eligibility
21 Years and older
Enrollment
233 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2022
U.S. locations
11
States / cities
Phoenix, Arizona • Englewood, Colorado • Tampa, Florida + 8 more
Source: ClinicalTrials.gov public record
Updated Sep 21, 2022 · Synced Nov 3, 2026, 2:03 PM EST
Recruiting Phase 2Phase 3 Interventional

Study to Evaluate the Pharmacodynamics, Safety and Efficacy of SKY-0515 in Participants With Huntington's Disease

NCT07378644
View directory record Official record
Conditions
Huntington Disease
Interventions
SKY-0515, SKY-0515 Placebo
Drug
Lead sponsor
Skyhawk Therapeutics, Inc.
Industry
Eligibility
25 Years and older
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2029
U.S. locations
4
States / cities
Englewood, Colorado • Boston, Massachusetts • Charlestown, Massachusetts + 1 more
Source: ClinicalTrials.gov public record
Updated Oct 29, 2026 · Synced Nov 3, 2026, 2:03 PM EST
Completed Phase 2 Interventional Results available

Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome

NCT00114634
View directory record Official record
Conditions
Smith-Lemli-Opitz Syndrome
Interventions
Egg yolk preparation with cholesterol, Egg substitute, without cholesterol
Dietary Supplement
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
4 Years to 17 Years
Enrollment
13 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2009
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jan 29, 2016 · Synced Nov 3, 2026, 2:03 PM EST
Recruiting No phase listed Observational

Longitudinal Endpoint Assessment of Disease Burden in HD

NCT06475898
View directory record Official record
Conditions
Huntington Disease
Interventions
Not listed
Lead sponsor
Huntington Study Group
Network
Eligibility
18 Years and older
Enrollment
600 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
1
States / cities
Rochester, New York
Source: ClinicalTrials.gov public record
Updated Sep 10, 2025 · Synced Nov 3, 2026, 2:03 PM EST
Completed No phase listed Observational

A Prospective Study of Patients With Hypoplastic Left Heart Syndrome (HLHS) Following Stage II Surgical Palliation

NCT01708863
View directory record Official record
Conditions
Hypoplastic Left Heart Syndrome
Interventions
Not listed
Lead sponsor
Timothy J Nelson, MD, PhD
Other
Eligibility
0 Months to 18 Months
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2020
U.S. locations
3
States / cities
Rochester, Minnesota • Oklahoma City, Oklahoma • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Oct 5, 2020 · Synced Nov 3, 2026, 2:03 PM EST
Completed Phase 2 Interventional

The Nutritional Supplement Phosphatidylserine in Patients With Familial Dysautonomia

NCT02276716
View directory record Official record
Conditions
Familial Dysautonomia
Interventions
Phosphatidylserine
Dietary Supplement
Lead sponsor
NYU Langone Health
Other
Eligibility
12 Years and older
Enrollment
26 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2019
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Feb 21, 2021 · Synced Nov 3, 2026, 2:03 PM EST