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ClinicalTrials.gov public records Last synced Oct 15, 2026, 5:19 PM EDT

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Showing 553–576 of 9,409 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Genetic Disease Clear all
Completed Phase 3 Interventional Results available

A Study of PTC923 in Participants With Phenylketonuria

NCT05099640
View directory record Official record
Conditions
Phenylketonuria
Interventions
PTC923, Placebo
Drug
Lead sponsor
PTC Therapeutics
Industry
Eligibility
Not listed
Enrollment
157 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
12
States / cities
Stanford, California • Aurora, Colorado • Gainesville, Florida + 9 more
Source: ClinicalTrials.gov public record
Updated Jan 10, 2024 · Synced Oct 15, 2026, 5:19 PM EDT
Completed No phase listed Observational

Natural History of Patients With PH3 and a History of Stone Events

NCT04542590
View directory record Official record
Conditions
Primary Hyperoxaluria Type 3
Interventions
Not listed
Lead sponsor
Dicerna Pharmaceuticals, Inc., a Novo Nordisk company
Industry
Eligibility
2 Years and older
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2024
U.S. locations
2
States / cities
Boston, Massachusetts • New York, New York
Source: ClinicalTrials.gov public record
Updated Dec 2, 2024 · Synced Oct 15, 2026, 5:19 PM EDT
Recruiting Phase 2 Interventional

Phase 2 Study to Assess the Safety and Efficacy of ANG003

NCT07450547
View directory record Official record
Conditions
Exocrine Pancreatic Insufficiency (EPI), Cystic Fibrosis (CF)
Interventions
ANG003 Dose A, ANG003 Dose B, Creon
Drug
Lead sponsor
Anagram Therapeutics, Inc.
Industry
Eligibility
12 Years and older
Enrollment
113 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2027
U.S. locations
27
States / cities
Long Beach, California • Los Angeles, California • Denver, Colorado + 23 more
Source: ClinicalTrials.gov public record
Updated Oct 6, 2026 · Synced Oct 15, 2026, 5:19 PM EDT
Terminated Not applicable Interventional

Osteoporosis and MRI Study in Hemophilia

NCT01460147
View directory record Official record
Conditions
Bone Mineral Density, Hemophilia A, Hemophilia B
Interventions
DXA scan + MRI
Other
Lead sponsor
Baxalta now part of Shire
Industry
Eligibility
25 Years and older · Male only
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2012
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Apr 22, 2021 · Synced Oct 15, 2026, 5:19 PM EDT
Active, not recruiting Phase 3 Interventional Results available

HELIOS-B: A Study to Evaluate Vutrisiran in Patients With Transthyretin Amyloidosis With Cardiomyopathy

NCT04153149
View directory record Official record
Conditions
Transthyretin Amyloidosis (ATTR) With Cardiomyopathy
Interventions
Vutrisiran, Sterile Normal Saline (0.9% NaCl)
Drug
Lead sponsor
Alnylam Pharmaceuticals
Industry
Eligibility
18 Years to 85 Years
Enrollment
655 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2026
U.S. locations
17
States / cities
La Mesa, California • Los Angeles, California • Stanford, California + 13 more
Source: ClinicalTrials.gov public record
Updated Jan 12, 2026 · Synced Oct 15, 2026, 5:19 PM EDT
Recruiting Not applicable Interventional

Trajectories of Change in Tourette Syndrome

NCT06679790
View directory record Official record
Conditions
Tourette Syndrome, Tic Disorders
Interventions
Comprehensive Behavioral Intervention for Tics
Behavioral
Lead sponsor
University of Minnesota
Other
Eligibility
12 Years to 17 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2029
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jul 17, 2026 · Synced Oct 15, 2026, 5:19 PM EDT
Completed Not applicable Interventional

Randomized Study of Alendronate in Adult Patients With Cystic Fibrosis Related Osteoporosis

NCT00004489
View directory record Official record
Conditions
Osteoporosis, Cystic Fibrosis
Interventions
alendronate sodium, calcium carbonate, cholecalciferol
Drug
Lead sponsor
University of North Carolina
Other
Eligibility
18 Years to 45 Years
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2002
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Mar 25, 2015 · Synced Oct 15, 2026, 5:19 PM EDT
Completed Phase 3 Interventional Results available

RESET Trial - Part 1 - A Phase 3 Trial in Subjects With Sjögren-Larsson Syndrome (SLS)

NCT03445650
View directory record Official record
Conditions
Sjogren-Larsson Syndrome
Interventions
ADX-102 1% Topical Dermal Cream (reproxalap), Vehicle of ADX-102 Topical Dermal Cream
Drug
Lead sponsor
Aldeyra Therapeutics, Inc.
Industry
Eligibility
3 Years and older
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
2
States / cities
New Haven, Connecticut • Omaha, Nebraska
Source: ClinicalTrials.gov public record
Updated Feb 9, 2023 · Synced Oct 15, 2026, 5:19 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

A Prospective Observational Study to Assess the Reliability and Validity of the MLSDT

NCT06805474
View directory record Official record
Conditions
Macular Degeneration, Geographic Atrophy, Stargardt Disease
Interventions
Observational
Other
Lead sponsor
Nanoscope Therapeutics Inc.
Industry
Eligibility
18 Years and older
Enrollment
30 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Mar 24, 2025 · Synced Oct 15, 2026, 5:19 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Sickle Cell Disease and the Genomic and Gene Therapy Needs of Stakeholders

NCT04416178
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
Not listed
Lead sponsor
St. Jude Children's Research Hospital
Other
Eligibility
13 Years and older
Enrollment
352 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2026
U.S. locations
1
States / cities
Memphis, Tennessee
Source: ClinicalTrials.gov public record
Updated May 1, 2026 · Synced Oct 15, 2026, 5:19 PM EDT
Not listed Phase 2 Interventional

Phase II Pilot Study to Compare the Bioavailability of Buffered, Enteric-Coated Ursodiol With Unmodified Ursodiol for Chronic Cholestatic Liver Disease and Cystic Fibrosis-Associated Liver Disease

NCT00004315
View directory record Official record
Conditions
Cystic Fibrosis, Gastrointestinal Diseases, Cholestasis
Interventions
ursodiol
Drug
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
4 Months and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1995
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 15, 2026, 5:19 PM EDT
Completed Phase 3 Interventional

A Study of Recombinant Von Willebrand Factor (rVWF) With or Without ADVATE in Children With Severe Von Willebrand Disease (VWD)

NCT02932618
View directory record Official record
Conditions
Von Willebrand Disease
Interventions
Vonicog alfa, Antihemophilic Factor (Recombinant)
Biological
Lead sponsor
Baxalta now part of Shire
Industry
Eligibility
Up to 17 Years
Enrollment
47 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2026
U.S. locations
16
States / cities
Aurora, Colorado • Washington D.C., District of Columbia • Jacksonville, Florida + 12 more
Source: ClinicalTrials.gov public record
Updated May 15, 2026 · Synced Oct 15, 2026, 5:19 PM EDT
Completed No phase listed Observational

Genetic Substudy of the Alternans Before Cardioverter Defibrillator (ABCD) Trial

NCT00583297
View directory record Official record
Conditions
Ventricular Tachycardia, Cardiovascular Diseases, Arrythmia, CVD
Interventions
Not listed
Lead sponsor
CardioDx
Industry
Eligibility
18 Years and older
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2009
U.S. locations
1
States / cities
Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Feb 22, 2018 · Synced Oct 15, 2026, 5:19 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

4R for Guideline Indicated BRCA Testing of Breast Center Patients

NCT01320540
View directory record Official record
Conditions
Newly Diagnosed Carcinoma of Breast, Genetic Predisposition to Disease
Interventions
Not listed
Lead sponsor
Northwestern University
Other
Eligibility
18 Years and older
Enrollment
75 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2016
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Aug 3, 2016 · Synced Oct 15, 2026, 5:19 PM EDT
Recruiting Not applicable Interventional

Multimedia Aid for Genetic Testing in Gynecologic Oncology

NCT07084168
View directory record Official record
Conditions
Ovary Cancer, Endometrial Cancer
Interventions
Educational videos, Survey
Behavioral
Lead sponsor
UNC Lineberger Comprehensive Cancer Center
Other
Eligibility
18 Years and older · Female only
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Nov 12, 2025 · Synced Oct 15, 2026, 5:19 PM EDT
Recruiting No phase listed Observational

Registry Study to Observe Long-term Safety of Vamorolone (AGAMREE®) in Patients With Duchenne Muscular Dystrophy-SUMMIT

NCT06564974
View directory record Official record
Conditions
Duchenne Muscular Dystrophy
Interventions
Vamorolone
Drug
Lead sponsor
Catalyst Pharmaceuticals, Inc.
Industry
Eligibility
2 Years and older · Male only
Enrollment
250 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2032
U.S. locations
31
States / cities
Phoenix, Arizona • Little Rock, Arkansas • Loma Linda, California + 27 more
Source: ClinicalTrials.gov public record
Updated Sep 24, 2026 · Synced Oct 15, 2026, 5:19 PM EDT
Completed Phase 2 Interventional Results available

Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Treatment in Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) Patients Less Than 5 Years of Age

NCT02418455
View directory record Official record
Conditions
Sly Syndrome, MPS VII, Mucopolysaccharidosis, Mucopolysaccharidosis VII
Interventions
UX003
Drug
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
1 Day to 5 Years
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2019
U.S. locations
3
States / cities
Washington D.C., District of Columbia • New York, New York • Salt Lake City, Utah
Source: ClinicalTrials.gov public record
Updated Oct 30, 2019 · Synced Oct 15, 2026, 5:19 PM EDT
Active, not recruiting Not applicable Interventional

Albright Hereditary Osteodystrophy: Natural History, Growth, and Cognitive/Behavioral Assessments

NCT00209235
View directory record Official record
Conditions
Pseudohypoparathyroidism Type 1A, Albright Hereditary Osteodystrophy, Pseudopseudohypoparathyroidism
Interventions
Neurocognitive and psychosocial testing
Behavioral
Lead sponsor
Connecticut Children's Medical Center
Other
Eligibility
2 Months to 89 Years
Enrollment
600 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2030
U.S. locations
1
States / cities
Hartford, Connecticut
Source: ClinicalTrials.gov public record
Updated Jun 2, 2026 · Synced Oct 15, 2026, 5:19 PM EDT
Completed No phase listed Observational

Air Optix® Night and Day® Aqua Therapeutic Wear

NCT05956535
View directory record Official record
Conditions
Bullous Keratopathy, Corneal Erosion, Entropion, Corneal Edema, Corneal Dystrophy
Interventions
Lotrafilcon A contact lenses, Balafilcon A contact lenses
Device
Lead sponsor
Alcon Research
Industry
Eligibility
18 Years and older
Enrollment
168 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2024
U.S. locations
3
States / cities
Delray Beach, Florida • St Louis, Missouri • Fort Worth, Texas
Source: ClinicalTrials.gov public record
Updated Nov 13, 2024 · Synced Oct 15, 2026, 5:19 PM EDT
Completed No phase listed Observational

Personalized Risk Evaluation and Diagnosis (Using Corus CAD or ASGES) in the Coronary Tree

NCT00500617
View directory record Official record
Conditions
Coronary Artery Disease, Angina Pectoris, Chest Pain, Cardiovascular Diseases, Coronary Heart Disease, CAD, CVD, CHD
Interventions
Corus CAD (ASGES)
Diagnostic Test
Lead sponsor
CardioDx
Industry
Eligibility
21 Years to 99 Years
Enrollment
4,350 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2011
U.S. locations
10
States / cities
Anchorage, Alaska • Beverly Hills, California • La Jolla, California + 7 more
Source: ClinicalTrials.gov public record
Updated Jan 31, 2019 · Synced Oct 15, 2026, 5:19 PM EDT
Terminated Not applicable Interventional

The Effect of Low Intensity Exercise on Quality of Life and Hemodynamics in Patients With Permanent Atrial Fibrillation

NCT00680290
View directory record Official record
Conditions
Atrial Fibrillation
Interventions
Exercise
Procedure
Lead sponsor
University of Texas Southwestern Medical Center
Other
Eligibility
Not listed
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2009
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Jan 16, 2019 · Synced Oct 15, 2026, 5:19 PM EDT
Completed Phase 2Phase 3 Interventional

A Randomized Study of BPN14770 in Male Adolescents (Aged 9 to < 18 Years) With Fragile X Syndrome

NCT05163808
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
zatolmilast, Placebo
Drug
Lead sponsor
Tetra Discovery Partners
Industry
Eligibility
9 Years to 18 Years · Male only
Enrollment
163 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2025
U.S. locations
17
States / cities
Irvine, California • Orange, California • Sacramento, California + 14 more
Source: ClinicalTrials.gov public record
Updated Aug 31, 2026 · Synced Oct 15, 2026, 5:19 PM EDT
Not listed No phase listed Observational

Noninvasive Prenatal Diagnosis: Using Fetal Cells From Maternal Blood

NCT00064597
View directory record Official record
Conditions
Chromosome Disorders
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
16 Years to 45 Years · Female only
Enrollment
3,500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1987 – 2003
U.S. locations
5
States / cities
Chicago, Illinois • Boston, Massachusetts • Detroit, Michigan + 2 more
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 15, 2026, 5:19 PM EDT
Recruiting No phase listed Observational

Angelman Syndrome Natural History Study

NCT04507997
View directory record Official record
Conditions
Angelman Syndrome
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Not listed
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2031
U.S. locations
8
States / cities
Los Angeles, California • San Diego, California • Aurora, Colorado + 5 more
Source: ClinicalTrials.gov public record
Updated Apr 3, 2025 · Synced Oct 15, 2026, 5:19 PM EDT