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ClinicalTrials.gov public records Last synced Oct 19, 2026, 3:30 PM EDT

Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.

Showing 97–120 of 9,568 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Genetics Clear all
Recruiting Phase 4 Interventional

Rollover Study for Patients With Sickle Cell Disease Who Have Completed a Prior Novartis-Sponsored Crizanlizumab Study

NCT04657822
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
Crizanlizumab
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
6 Months to 100 Years
Enrollment
130 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2031
U.S. locations
7
States / cities
Birmingham, Alabama • Washington D.C., District of Columbia • Augusta, Georgia + 3 more
Source: ClinicalTrials.gov public record
Updated Jun 8, 2026 · Synced Oct 19, 2026, 3:30 PM EDT
Enrolling by invitation Phase 3 Interventional

Global Open-Label Extension Study of Del-desiran for the Treatment of DM1

NCT07008469
View directory record Official record
Conditions
Myotonic Dystrophy Type 1, DM1, Myotonic Dystrophy, Myotonia, Myotonic Dystrophy 1, Myotonic Disorders, Steinert Myotonic Dystrophy, Steinert Disease
Interventions
Del-desiran (AOC 1001)
Drug
Lead sponsor
Avidity Biosciences, Inc.
Industry
Eligibility
16 Years and older
Enrollment
199 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2030
U.S. locations
19
States / cities
Los Angeles, California • Stanford, California • Denver, Colorado + 16 more
Source: ClinicalTrials.gov public record
Updated Aug 19, 2026 · Synced Oct 19, 2026, 3:30 PM EDT
Completed Phase 1 Interventional

Safety Study of Human Recombinant Tissue Non-Specific Alkaline Phosphatase Fusion Protein Asfotase Alfa in Adults With Hypophosphatasia (HPP)

NCT00739505
View directory record Official record
Conditions
Hypophosphatasia (HPP)
Interventions
Asfotase Alfa
Biological
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
18 Years to 80 Years
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2009
U.S. locations
2
States / cities
St Louis, Missouri • Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Mar 29, 2019 · Synced Oct 19, 2026, 3:30 PM EDT
Recruiting No phase listed Observational

Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome

NCT00001456
View directory record Official record
Conditions
Hermansky-Pudlak Syndrome (HPS)
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month to 115 Years
Enrollment
600 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1995
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 13, 2026 · Synced Oct 19, 2026, 3:30 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Identifying and Caring for Individuals With Inherited Cancer Syndrome

NCT04494945
View directory record Official record
Conditions
BRCA1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome, Breast Ductal Carcinoma In Situ, Hematopoietic and Lymphoid System Neoplasm, Hereditary Neoplastic Syndrome, Lynch Syndrome, Malignant Solid Neoplasm
Interventions
Biospecimen Collection, Genetic Counseling, Genetic Testing, Survey Administration
Procedure · Other
Lead sponsor
OHSU Knight Cancer Institute
Other
Eligibility
18 Years and older
Enrollment
27,500 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2027
U.S. locations
2
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Jul 14, 2026 · Synced Oct 19, 2026, 3:30 PM EDT
Completed Phase 3 Interventional

INcreased Sun Exposure Without Pain In Research Participants With EPP or XLP

NCT06144840
View directory record Official record
Conditions
Erythropoietic Protoporphyria (EPP), X-Linked Protoporphyria (XLP)
Interventions
Dersimelagon, Placebo
Drug
Lead sponsor
Tanabe Pharma America, Inc.
Industry
Eligibility
12 Years to 75 Years
Enrollment
165 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2026
U.S. locations
13
States / cities
Huntington Beach, California • San Francisco, California • Miami, Florida + 10 more
Source: ClinicalTrials.gov public record
Updated Jun 4, 2026 · Synced Oct 19, 2026, 3:30 PM EDT
Terminated Not applicable Interventional Accepts healthy volunteers Results available

Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy

NCT01541397
View directory record Official record
Conditions
Hyperphenylalaninemia, Phenylketonuria
Interventions
Sapropterin
Drug
Lead sponsor
The University of Texas Health Science Center, Houston
Other
Eligibility
18 Years to 50 Years
Enrollment
6 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2012
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jul 7, 2015 · Synced Oct 19, 2026, 3:30 PM EDT
Recruiting Phase 4 Interventional

Clinical and Biomarker Effects of Depot Medroxyprogesterone Acetate in Females With Sickle Cell Disease

NCT06665997
View directory record Official record
Conditions
Sickle Cell Disease (SCD), Vaso-Occlusive Pain Episode in Sickle Cell Disease
Interventions
Depot medroxyprogesterone acetate (DMPA)
Drug
Lead sponsor
University of Pennsylvania
Other
Eligibility
18 Years to 50 Years · Female only
Enrollment
65 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
2
States / cities
Atlanta, Georgia • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated May 28, 2026 · Synced Oct 19, 2026, 3:30 PM EDT
Recruiting No phase listed Observational

FITting Non-invasive Tests in Lynch Syndrome Surveillance

NCT06898996
View directory record Official record
Conditions
Colorectal Cancer
Interventions
Fecal immunochemical test
Other
Lead sponsor
University of Chicago
Other
Eligibility
20 Years to 80 Years
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2029
U.S. locations
3
States / cities
Chicago, Illinois • Ann Arbor, Michigan • New York, New York
Source: ClinicalTrials.gov public record
Updated Apr 16, 2026 · Synced Oct 19, 2026, 3:30 PM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

A Study to Evaluate Safety and Tolerability of BMN 111 Administered to Healthy Adult Volunteers

NCT01590446
View directory record Official record
Conditions
Achondroplasia
Interventions
BMN 111, Normal Saline
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
22 Years to 45 Years · Male only
Enrollment
74 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012
U.S. locations
1
States / cities
Evansville, Indiana
Source: ClinicalTrials.gov public record
Updated Jun 11, 2012 · Synced Oct 19, 2026, 3:30 PM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Amyloid Plaque and Tangle Imaging in Alzheimer's Disease and Down Syndrome

NCT00965835
View directory record Official record
Conditions
Down Syndrome, Alzheimer's Disease
Interventions
Not listed
Lead sponsor
National Institute on Aging (NIA)
NIH
Eligibility
21 Years and older
Enrollment
40 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2011
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Dec 29, 2009 · Synced Oct 19, 2026, 3:30 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Detecting Dopaminergic Deficits in Individuals At-risk for Parkinsonism

NCT01358474
View directory record Official record
Conditions
Parkinson Disease, Gaucher Disease, Idiopathic Rapid Eye Movement Sleep Disorder
Interventions
Not listed
Lead sponsor
University of Minnesota
Other
Eligibility
18 Years to 85 Years
Enrollment
56 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2018
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Apr 18, 2019 · Synced Oct 19, 2026, 3:30 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Angelman Syndrome Video Assessment (ASVA) Source Material Study

NCT05637697
View directory record Official record
Conditions
Angelman Syndrome
Interventions
Not listed
Lead sponsor
The Emmes Company, LLC
Industry
Eligibility
1 Year and older
Enrollment
73 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2023
U.S. locations
1
States / cities
Kingston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Dec 13, 2023 · Synced Oct 19, 2026, 3:30 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 19, 2026, 3:30 PM EDT
Completed Not applicable Interventional

The Impact of Exercise on Stress, Fatigue, and Quality of Life in Individuals With Primary Immunodeficiency Disease

NCT03211689
View directory record Official record
Conditions
Primary Immune Deficiency Disorder, Common Variable Immunodeficiency, Specific Antibody Deficiency, Hypergammaglobulinemia
Interventions
Exercise Program
Other
Lead sponsor
Stockton University
Other
Eligibility
18 Years and older
Enrollment
36 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017
U.S. locations
1
States / cities
Galloway, New Jersey
Source: ClinicalTrials.gov public record
Updated Sep 6, 2018 · Synced Oct 19, 2026, 3:30 PM EDT
Completed Phase 1 Interventional

Safety and Tolerability Study of rAvPAL-PEG to Treat Phenylketonuria

NCT00634660
View directory record Official record
Conditions
Phenylketonuria
Interventions
rAvPAL-PEG
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
16 Years to 50 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2009
U.S. locations
8
States / cities
Chicago, Illinois • Minneapolis, Minnesota • St Louis, Missouri + 5 more
Source: ClinicalTrials.gov public record
Updated Feb 1, 2017 · Synced Oct 19, 2026, 3:30 PM EDT
Active, not recruiting No phase listed Observational

LGMD R1 Natural History Study

NCT05618080
View directory record Official record
Conditions
Calpain-3 Deficiency Limb Girdle Muscular Dystrophy Type 2A, Limb Girdle Muscular Dystrophy, Limb Girdle Muscular Dystrophy Type R1, LGMD2A
Interventions
Not listed
Lead sponsor
Virginia Commonwealth University
Other
Eligibility
12 Years to 50 Years
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2028
U.S. locations
9
States / cities
Orange, California • Aurora, Colorado • Gainesville, Florida + 6 more
Source: ClinicalTrials.gov public record
Updated Jun 10, 2026 · Synced Oct 19, 2026, 3:30 PM EDT
Completed No phase listed Observational Results available

A Natural History of the Progression of Stargardt Disease: Retrospective and Prospective Studies

NCT01977846
View directory record Official record
Conditions
Stargardt Disease
Interventions
Not listed
Lead sponsor
Foundation Fighting Blindness
Other
Eligibility
6 Years and older
Enrollment
259 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2017
U.S. locations
6
States / cities
Baltimore, Maryland • Cleveland, Ohio • Philadelphia, Pennsylvania + 2 more
Source: ClinicalTrials.gov public record
Updated Nov 1, 2019 · Synced Oct 19, 2026, 3:30 PM EDT
Withdrawn No phase listed Observational Accepts healthy volunteers

Understanding the Natural History Early in the Course or Presentation of Friedreich Ataxia

NCT06560346
View directory record Official record
Conditions
Friedreich Ataxia, Rare Diseases
Interventions
Geneticlly confirmed disease causing FXN mutatuion, Healthy Control
Other
Lead sponsor
Friedreich's Ataxia Research Alliance
Other
Eligibility
4 Years to 21 Years
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2028
U.S. locations
3
States / cities
Iowa City, Iowa • Philadelphia, Pennsylvania • Memphis, Tennessee
Source: ClinicalTrials.gov public record
Updated Jun 8, 2025 · Synced Oct 19, 2026, 3:30 PM EDT
Completed No phase listed Observational

Pregnancy in Osteogenesis Imperfecta (OI) Registry

NCT03072303
View directory record Official record
Conditions
Osteogenesis Imperfecta, Brittle Bone Disorders
Interventions
Web-based Survey
Other
Lead sponsor
University of South Florida
Other
Eligibility
Female only
Enrollment
170 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2019
U.S. locations
1
States / cities
Tampa, Florida
Source: ClinicalTrials.gov public record
Updated Oct 16, 2019 · Synced Oct 19, 2026, 3:30 PM EDT
Completed Phase 3 Interventional Results available

A Study of Lebrikizumab (LY3650150) in Adult and Adolescent Participants With Moderate-to-Severe Atopic Dermatitis Previously Treated With Dupilumab

NCT05369403
View directory record Official record
Conditions
Atopic Dermatitis
Interventions
Lebrikizumab
Drug
Lead sponsor
Eli Lilly and Company
Industry
Eligibility
12 Years and older
Enrollment
86 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2025
U.S. locations
37
States / cities
Montgomery, Alabama • Phoenix, Arizona • Fountain Valley, California + 31 more
Source: ClinicalTrials.gov public record
Updated Feb 25, 2026 · Synced Oct 19, 2026, 3:30 PM EDT
Not yet recruiting Phase 1 Interventional

Escalating Doses of Memantine in Down Syndrome (MEDS-123)

NCT07531940
View directory record Official record
Conditions
Down Syndrome, Intellectual Disability, Alzheimer Dementia (AD)
Interventions
Memantine
Drug
Lead sponsor
University Hospitals Cleveland Medical Center
Other
Eligibility
18 Years to 32 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
1
States / cities
Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Oct 5, 2026 · Synced Oct 19, 2026, 3:30 PM EDT
Enrolling by invitation No phase listed Observational Accepts healthy volunteers

Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias

NCT02413450
View directory record Official record
Conditions
Inherited Cardiac Arrythmias, Long QT Syndrome (LQTS), Brugada Syndrome (BrS), Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Early Repolarization Syndrome (ERS), Arrhythmogenic Cardiomyopathy (AC, ARVD/C), Hypertrophic Cardiomyopathy (HCM), Dilated Cardiomyopathy (DCM), Muscular Dystrophies (Duchenne, Becker, Myotonic Dystrophy), Normal Control Subjects
Interventions
Not listed
Lead sponsor
Johns Hopkins University
Other
Eligibility
18 Years to 85 Years
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2031
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Jan 16, 2026 · Synced Oct 19, 2026, 3:30 PM EDT
Completed Phase 2 Interventional Results available

Erlotinib Hydrochloride in Reducing Duodenal Polyp Burden in Patients With Familial Adenomatous Polyposis at Risk of Developing Colon Cancer

NCT02961374
View directory record Official record
Conditions
Attenuated Familial Adenomatous Polyposis, Familial Adenomatous Polyposis
Interventions
Erlotinib, Erlotinib Hydrochloride
Drug
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years to 69 Years
Enrollment
46 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2021
U.S. locations
7
States / cities
Scottsdale, Arizona • Ann Arbor, Michigan • Rochester, Minnesota + 4 more
Source: ClinicalTrials.gov public record
Updated Jul 26, 2022 · Synced Oct 19, 2026, 3:30 PM EDT