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ClinicalTrials.gov public records Last synced Oct 5, 2026, 1:41 AM EDT

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Showing 1–24 of 193 matching trials from the live ClinicalTrials.gov search.
Filters: Intervention: genetic sequencing Clear all
Completed No phase listed Observational

Informed Consent for Whole Genome Sequencing: Ideals and Norms Referenced by Early Participants

NCT01369953
View directory record Official record
Conditions
Coronary Artery Disease, Proteus Syndrome, Coffin - Sins Syndrome, Familial Isolated Hyperparathyroidism, Dubouitz Syndrome
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 65 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2014
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 26, 2018 · Synced Oct 5, 2026, 1:41 AM EDT
Recruiting No phase listed Observational

Genetics of Epilepsy and Related Disorders

NCT01858285
View directory record Official record
Conditions
Epilepsy, Epileptic Encephalopathy
Interventions
Exome and/or whole genome sequencing
Genetic
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Not listed
Enrollment
5,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2030
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jan 9, 2026 · Synced Oct 5, 2026, 1:41 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

South-seq: Deoxyribonucleic Acid (DNA) Sequencing for Newborn Nurseries in the South

NCT03842995
View directory record Official record
Conditions
Whole Genome Sequencing
Interventions
Genetic Counselor, Trained Healthcare Provider
Behavioral
Lead sponsor
University of Alabama at Birmingham
Other
Eligibility
Not listed
Enrollment
477 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2023
U.S. locations
3
States / cities
Birmingham, Alabama • Baton Rouge, Louisiana • Jackson, Mississippi
Source: ClinicalTrials.gov public record
Updated Dec 13, 2024 · Synced Oct 5, 2026, 1:41 AM EDT
Not listed Not applicable Interventional Results available

Perinatal Precision Medicine

NCT03211039
View directory record Official record
Conditions
Genetic Diseases, Genetic Syndrome, Mendelian Disorders
Interventions
Genomic sequencing and molecular diagnostic results, if any.
Genetic
Lead sponsor
Rady Pediatric Genomics & Systems Medicine Institute
Other
Eligibility
Up to 4 Months
Enrollment
213 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2024
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Mar 1, 2024 · Synced Oct 5, 2026, 1:41 AM EDT
Completed No phase listed Observational Accepts healthy volunteers Results available

Prenatal Genetic Diagnosis by Genomic Sequencing

NCT03936101
View directory record Official record
Conditions
Fetal Structural Anomalies
Interventions
Prenatal Genomic Sequencing
Diagnostic Test
Lead sponsor
Columbia University
Other
Eligibility
18 Years and older
Enrollment
1,097 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2024
U.S. locations
5
States / cities
New York, New York • Chapel Hill, North Carolina • Cincinnati, Ohio + 1 more
Source: ClinicalTrials.gov public record
Updated Oct 27, 2025 · Synced Oct 5, 2026, 1:41 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Study to Identify the Genetic Variations Associated With Phantom Limb Pain

NCT01462448
View directory record Official record
Conditions
Phantom Limb
Interventions
Blood Draw
Procedure
Lead sponsor
Henry M. Jackson Foundation for the Advancement of Military Medicine
Other
Eligibility
18 Years and older
Enrollment
726 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2023
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 12, 2025 · Synced Oct 5, 2026, 1:41 AM EDT
Active, not recruiting Not applicable Interventional

Implementing a Randomized Control Trial to Test the Expanded Web-based Decision Aid

NCT06910670
View directory record Official record
Conditions
Cholangiocarcinoma, Colorectal Cancer, Multiple Myeloma
Interventions
Standard developed materials, Genetics Advisor Decision Aid
Other
Lead sponsor
Washington University School of Medicine
Other
Eligibility
18 Years and older
Enrollment
197 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2026
U.S. locations
1
States / cities
St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Sep 25, 2026 · Synced Oct 5, 2026, 1:41 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Universal Endometrial Cancer DNA Sequencing for Detection of Lynch Syndrome and Personalized Care

NCT03460483
View directory record Official record
Conditions
Endometrial Adenocarcinoma, Endometrial Carcinoma, Lynch Syndrome, Relatives
Interventions
Genetic Counseling, Genetic Testing, Laboratory Biomarker Analysis, Mutation Carrier Screening
Other · Procedure
Lead sponsor
Ohio State University Comprehensive Cancer Center
Other
Eligibility
18 Years and older
Enrollment
1,001 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2025
U.S. locations
9
States / cities
Akron, Ohio • Canton, Ohio • Cincinnati, Ohio + 3 more
Source: ClinicalTrials.gov public record
Updated Oct 3, 2025 · Synced Oct 5, 2026, 1:41 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

North Carolina Newborn Exome Sequencing for Universal Screening

NCT02826694
View directory record Official record
Conditions
Metabolism, Inborn Errors, Hearing Loss, Hereditary Disease
Interventions
Well infant, whole exome sequencing, Diagnosed, whole exome sequencing
Genetic
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
1 Hour to 5 Years
Enrollment
106 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2019
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 8, 2020 · Synced Oct 5, 2026, 1:41 AM EDT
Active, not recruiting No phase listed Observational

Diagnostic Odyssey: Whole Genome Sequencing (WGS)

NCT03458962
View directory record Official record
Conditions
Genetic Disease, Genetic Syndrome
Interventions
Genetic Enrollees
Genetic
Lead sponsor
Nicklaus Children's Hospital f/k/a Miami Children's Hospital
Other
Eligibility
Up to 21 Years
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2070
U.S. locations
1
States / cities
Miami, Florida
Source: ClinicalTrials.gov public record
Updated Aug 24, 2026 · Synced Oct 5, 2026, 1:41 AM EDT
Not listed Not applicable Interventional

Autoimmune Cytopenias as a Sign of Primary Immunodeficiency.

NCT06276036
View directory record Official record
Conditions
Cytopenia
Interventions
Identification of specific markers
Other
Lead sponsor
Meyer Children's Hospital IRCCS
Other
Eligibility
1 Year to 17 Years
Enrollment
53 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2025
U.S. locations
1
States / cities
Tampa, Florida
Source: ClinicalTrials.gov public record
Updated Mar 29, 2024 · Synced Oct 5, 2026, 1:41 AM EDT
Not listed No phase listed Observational

Molecular Testing of Cancer by Integrated Genomic, Transcriptomic, and Proteomic Analysis

NCT02213822
View directory record Official record
Conditions
Solid Tumors, Hematological Malignancies
Interventions
Molecular Analysis of Cancer
Other
Lead sponsor
Rhode Island Hospital
Other
Eligibility
18 Years and older
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2015
U.S. locations
3
States / cities
East Greenwich, Rhode Island • Providence, Rhode Island
Source: ClinicalTrials.gov public record
Updated Aug 27, 2014 · Synced Oct 5, 2026, 1:41 AM EDT
Recruiting No phase listed Observational

Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)

NCT05354622
View directory record Official record
Conditions
Hereditary Spastic Paraplegia, Neurodegenerative Diseases, Pediatric Disorder, Spasticity, Muscle, Motor Neuron Disease, Movement Disorders
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
1 Month to 30 Years
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Mar 18, 2026 · Synced Oct 5, 2026, 1:41 AM EDT
Terminated Not applicable Interventional Results available

"Answers in Hours" A Randomized Controlled Trial Using Microbiome Metagenomics for Bile Duct Cultures

NCT05523154
View directory record Official record
Conditions
Benign Pancreatic Neoplasm, Malignant Pancreatic Neoplasm
Interventions
Biospecimen Collection, Laboratory Procedure, Nanopore Sequencing
Procedure · Other · Device
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years and older
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Feb 18, 2025 · Synced Oct 5, 2026, 1:41 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

The CurePSP Genetics Program

NCT06647641
View directory record Official record
Conditions
PSP, PSP - Progressive Supranuclear Palsy, Corticobasal Syndrome, Corticobasal Syndrome(CBS), Corticobasal Degeneration Syndrome, Corticobasal Degeneration, Corticobasal Degeneration (CBD), Corticobasal Syndrome (CBS), MSA, MSA - Multiple System Atrophy, MSA-C, Multiple System Atrophy, Multiple System Atrophy (MSA) With Orthostatic Hypotension, Multiple System Atrophy - Cerebellar Subtype (MSA-C), Multiple System Atrophy - Parkinsonian Subtype (MSA-P), Multiple System Atrophy, Cerebellar Type, Multiple System Atrophy, Parkinsonian Type, Progressive Supranuclear Palsy, Progressive Supranuclear Palsy(PSP), Progressive Supranuclear Palsy (PSP)
Interventions
Whole genome sequencing will be performed at the NIH
Other
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
35 Years and older
Enrollment
1,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2030
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jan 14, 2026 · Synced Oct 5, 2026, 1:41 AM EDT
Completed No phase listed Observational

Utilizing a Multi-gene Testing Approach to Identify Hereditary Pancreatic Cancer

NCT02790944
View directory record Official record
Conditions
Pancreatic Ductal Adenocarcinoma
Interventions
Multi-gene Next Generation Sequencing Panel
Genetic
Lead sponsor
Ambry Genetics
Industry
Eligibility
18 Years to 89 Years
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2020
U.S. locations
3
States / cities
Scottsdale, Arizona • Boston, Massachusetts • Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Aug 25, 2020 · Synced Oct 5, 2026, 1:41 AM EDT
Not listed No phase listed Observational

Utility of Rapid Whole Genome Sequencing in the NICU: A Pilot Study

NCT03918707
View directory record Official record
Conditions
Genetic Disease, Genetic Syndrome
Interventions
Rapid Whole Genome Sequencing (rWGS)
Diagnostic Test
Lead sponsor
University of Illinois College of Medicine at Peoria
Other
Eligibility
0 Months to 4 Months
Enrollment
115 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
1
States / cities
Peoria, Illinois
Source: ClinicalTrials.gov public record
Updated May 27, 2021 · Synced Oct 5, 2026, 1:41 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Helix Research Network

NCT06057181
View directory record Official record
Conditions
Genetic Predisposition to Disease, Genetics Disease
Interventions
Exome sequencing
Genetic
Lead sponsor
Helix, Inc
Industry
Eligibility
18 Years and older
Enrollment
2,000,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2036
U.S. locations
14
States / cities
Fort Wayne, Indiana • Bloomington, Minnesota • Omaha, Nebraska + 11 more
Source: ClinicalTrials.gov public record
Updated Mar 23, 2026 · Synced Oct 5, 2026, 1:41 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Genetics of Appendix Cancer Study

NCT05734430
View directory record Official record
Conditions
Appendix Cancer, Appendiceal Cancer, Appendiceal Neoplasms, Appendiceal Mucinous Neoplasm, Appendiceal Adenocarcinoma, Appendiceal Carcinoid Tumor, Appendiceal Neoplasm Malignant Secondary, Appendix Adenocarcinoma, Appendix Mucinous Neoplasm, Appendix Tumor, Appendix Cancer Metastatic, Appendix NET, Low-Grade Appendix Mucinous Neoplasm, High Grade Appendix Mucinous Neoplasm, High Grade Appendix Mucinous Adenocarcinoma
Interventions
Genetic profiling, Retrospective tissue procurement
Genetic · Other
Lead sponsor
Andreana Holowatyj, PhD, MSCI
Other
Eligibility
18 Years and older
Enrollment
700 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2034
U.S. locations
1
States / cities
Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Apr 18, 2025 · Synced Oct 5, 2026, 1:41 AM EDT
Not listed Phase 2 Interventional

Comparison of Frozen-thawed Embryo Transfers and Fresh Embryo Transfers With Whole Chromosome Analysis Using Next Generation Sequencing

NCT02000349
View directory record Official record
Conditions
Infertility
Interventions
PGD
Other
Lead sponsor
Reprogenetics
Industry
Eligibility
18 Years to 42 Years · Female only
Enrollment
186 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2016
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Nov 17, 2015 · Synced Oct 5, 2026, 1:41 AM EDT
Completed No phase listed Observational

Development Of A Blood Test To Improve The Performance Of Breast Cancer Screening

NCT03372902
View directory record Official record
Conditions
Breast Cancer, Breast Benign
Interventions
Breast MRI, Breast Mammogram, Blood draw, Breast Biopsy, online participant reported questionnaire
Device · Other · Procedure + 1 more
Lead sponsor
Memorial Sloan Kettering Cancer Center
Other
Eligibility
18 Years and older · Female only
Enrollment
628 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2025
U.S. locations
7
States / cities
Hartford, Connecticut • Miami, Florida • Basking Ridge, New Jersey + 4 more
Source: ClinicalTrials.gov public record
Updated Mar 14, 2025 · Synced Oct 5, 2026, 1:41 AM EDT
Completed No phase listed Observational

Laboratory Study of Lymphoblasts in Young Patients With High-Risk Acute Lymphoblastic Leukemia

NCT00896766
View directory record Official record
Conditions
Leukemia
Interventions
loss of heterozygosity analysis, microarray analysis, polymorphism analysis, tumor replication error analysis
Genetic
Lead sponsor
Children's Oncology Group
Network
Eligibility
1 Year to 21 Years
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2016
U.S. locations
1
States / cities
Charleston, South Carolina
Source: ClinicalTrials.gov public record
Updated May 17, 2016 · Synced Oct 5, 2026, 1:41 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Utilizing Long-read Sequencing to Investigate the EGFR Landscape of EGFR Positive Lung Cancer Patients

NCT06659458
View directory record Official record
Conditions
Lung Cancer - Non Small Cell, EGFR Exon 19 Deletion Mutation
Interventions
blood draw, Gene sequencing
Other
Lead sponsor
Our Lady of the Lake Hospital
Other
Eligibility
18 Years to 100 Years · Female only
Enrollment
20 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025
U.S. locations
1
States / cities
Baton Rouge, Louisiana
Source: ClinicalTrials.gov public record
Updated Mar 20, 2025 · Synced Oct 5, 2026, 1:41 AM EDT
Withdrawn Not applicable Interventional Accepts healthy volunteers

Development of an Optimal Approach to Return of Results for Next-generation Sequencing for Prenatal Diagnosis

NCT02255825
View directory record Official record
Conditions
Major Fetal Anomaly
Interventions
Whole Genome Sequencing, Amniocentesis, Psychosocial assessment
Genetic · Procedure · Other
Lead sponsor
University of California, San Diego
Other
Eligibility
18 Years and older
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2019
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Jun 6, 2019 · Synced Oct 5, 2026, 1:41 AM EDT