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ClinicalTrials.gov public records Last synced Oct 23, 2026, 8:21 AM EDT

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Showing 1–24 of 74 matching trials from the live ClinicalTrials.gov search.
Filters: Intervention: Exome sequencing Clear all
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 23, 2026, 8:21 AM EDT
Completed Not applicable Interventional Results available

Endoscopic Ultrasound Guided Fine Needle Biopsy (EUS-FNB-SC) Using a Novel Fork Needle

NCT02678442
View directory record Official record
Conditions
Pancreatic Cancer
Interventions
Fine Needle Biopsy (FNB), Fine Needle Aspiration (FNA)
Device
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years to 100 Years
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2018
U.S. locations
1
States / cities
Jacksonville, Florida
Source: ClinicalTrials.gov public record
Updated Jan 6, 2020 · Synced Oct 23, 2026, 8:21 AM EDT
Terminated Phase 2 Interventional

Phase II Study Using Genomic & Proteomic Profiling to Influence Treatments for Patients With Metastatic Breast Cancer

NCT02008994
View directory record Official record
Conditions
Metastatic Breast Cancer
Interventions
Genomic and Proteomic Profiling
Other
Lead sponsor
Sanford Health
Other
Eligibility
18 Years and older
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2014
U.S. locations
1
States / cities
Sioux Falls, South Dakota
Source: ClinicalTrials.gov public record
Updated Mar 24, 2015 · Synced Oct 23, 2026, 8:21 AM EDT
Suspended No phase listed Observational

Biospecimen Collection in Identifying Genetic Changes in Patients With Breast, Prostate, Colorectal, Liver, or Kidney Cancer or Multiple Myeloma Undergoing Surgery

NCT04955808
View directory record Official record
Conditions
Breast Carcinoma, Colon Carcinoma, Invasive Carcinoma, Kidney Carcinoma, Liver Carcinoma, Malignant Solid Neoplasm, Multiple Myeloma, Prostate Carcinoma
Interventions
Biospecimen Collection, Laboratory Biomarker Analysis
Procedure · Other
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Enrollment
2,400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2026
U.S. locations
1
States / cities
Rockville, Maryland
Source: ClinicalTrials.gov public record
Updated May 13, 2026 · Synced Oct 23, 2026, 8:21 AM EDT
Completed Not applicable Interventional Results available

Genomic Sequencing for Childhood Risk and Newborn Illness

NCT02422511
View directory record Official record
Conditions
Hereditary Disease, Genetic Predisposition to Disease
Interventions
Genomic sequencing, Family history report
Genetic · Other
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
Not listed
Enrollment
1,205 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2021
U.S. locations
2
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Apr 3, 2024 · Synced Oct 23, 2026, 8:21 AM EDT
Completed Not applicable Interventional

The VetSeq Study: a Pilot Study of Genome Sequencing in Veteran Care

NCT03380819
View directory record Official record
Conditions
Rare Diseases, Genetic Disease
Interventions
Genome sequencing
Diagnostic Test
Lead sponsor
VA Boston Healthcare System
Federal
Eligibility
Not listed
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2022
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Apr 26, 2023 · Synced Oct 23, 2026, 8:21 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

A Safety Study Assessing the Effects of Receiving Genome Sequencing Results

NCT01692223
View directory record Official record
Conditions
History of Cancer
Interventions
qualitative interviews
Behavioral
Lead sponsor
Memorial Sloan Kettering Cancer Center
Other
Eligibility
18 Years and older
Enrollment
8 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2018
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Aug 2, 2018 · Synced Oct 23, 2026, 8:21 AM EDT
Active, not recruiting No phase listed Observational

Genetic Mutational Analysis of Saliva or Buccal Mucosa Samples From Patients With Embryonal or Alveolar Rhabdomyosarcoma

NCT03296371
View directory record Official record
Conditions
Alveolar Rhabdomyosarcoma, Embryonal Rhabdomyosarcoma
Interventions
Biospecimen Collection, Laboratory Biomarker Analysis, Questionnaire Administration
Procedure · Other
Lead sponsor
Children's Oncology Group
Network
Eligibility
Up to 50 Years
Enrollment
900 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2026
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Feb 6, 2026 · Synced Oct 23, 2026, 8:21 AM EDT
Completed No phase listed Observational

Study on Moebius Syndrome and Congenital Facial Weakness Disorders

NCT02055248
View directory record Official record
Conditions
Brain Disorders, Birth Defects, Craniofacial Differences
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
2 Years to 80 Years
Enrollment
207 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2020
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 13, 2026 · Synced Oct 23, 2026, 8:21 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 23, 2026, 8:21 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 23, 2026, 8:21 AM EDT
Completed No phase listed Observational

NIAID Clinical Center Genomics Opportunity Protocol

NCT02417766
View directory record Official record
Conditions
Immune Disorders
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
Not listed
Enrollment
139 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2019
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 16, 2023 · Synced Oct 23, 2026, 8:21 AM EDT
Active, not recruiting No phase listed Observational

Molecular Profiling in Tissue Samples From Patients With Cancer Who Are Exceptional Responders to Treatment

NCT02243592
View directory record Official record
Conditions
Malignant Neoplasm
Interventions
Laboratory Biomarker Analysis
Other
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Enrollment
170 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2027
U.S. locations
73
States / cities
Duarte, California • Fresno, California • Oakland, California + 58 more
Source: ClinicalTrials.gov public record
Updated Sep 30, 2026 · Synced Oct 23, 2026, 8:21 AM EDT
Completed Phase 2 Interventional Results available

Study of Enzalutamide in Patients With Castration-resistant Prostate Cancer

NCT01942837
View directory record Official record
Conditions
Metastatic Castration-resistant Prostate Cancer
Interventions
Enzalutamide
Drug
Lead sponsor
Dana-Farber Cancer Institute
Other
Eligibility
18 Years and older · Male only
Enrollment
67 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2022
U.S. locations
5
States / cities
Boston, Massachusetts • Weymouth, Massachusetts • Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Oct 24, 2022 · Synced Oct 23, 2026, 8:21 AM EDT
Recruiting Early Phase 1 Interventional

Personalized Dendritic Cell Vaccine Pilot for High Risk TNBC After Neoadjuvant Therapy

NCT06435351
View directory record Official record
Conditions
Breast Cancer, Triple Negative Breast Cancer
Interventions
Leukapheresis, Dendritic Cell (DC) Vaccine
Procedure · Biological
Lead sponsor
H. Lee Moffitt Cancer Center and Research Institute
Other
Eligibility
18 Years and older
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2029
U.S. locations
1
States / cities
Tampa, Florida
Source: ClinicalTrials.gov public record
Updated Apr 1, 2026 · Synced Oct 23, 2026, 8:21 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Patient Forward Access to Clinical and Technological Research: Genetic Influences on Cancer and Atopic Dermatitis

NCT04362852
View directory record Official record
Conditions
Eczema/Atopic Dermatitis, Cancer
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Not listed
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2021
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated May 9, 2022 · Synced Oct 23, 2026, 8:21 AM EDT
Terminated No phase listed Observational Accepts healthy volunteers

Malignant Hyperthermia Registry and Genetic Testing

NCT02964481
View directory record Official record
Conditions
Malignant Hyperthermia
Interventions
Whole exome sequencing
Genetic
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
Not listed
Enrollment
64 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2017
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Sep 3, 2020 · Synced Oct 23, 2026, 8:21 AM EDT
Enrolling by invitation Not applicable Interventional

Genetics of Differences of Sex Development and Hypospadias

NCT03102554
View directory record Official record
Conditions
Disorders of Sex Development, Hypospadias
Interventions
Return of Genetic Results
Genetic
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Not listed
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2027
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jul 22, 2026 · Synced Oct 23, 2026, 8:21 AM EDT
Terminated No phase listed Observational

Measuring Cell Free DNA During the Course of Treatment for Esophageal Cancer as a Marker of Response and Recurrence

NCT03108885
View directory record Official record
Conditions
Esophageal Neoplasm, Esophageal Neoplasms Malignancy Unspecified, Esophageal Neoplasms Malignant, Cancer of Esophagus, Cancer of the Esophagus, Esophageal Cancer, Esophagus Cancer, Neoplasm, Esophageal
Interventions
Blood and Tissue Collection
Other
Lead sponsor
Mayo Clinic
Other
Eligibility
19 Years and older
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2020
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Mar 22, 2024 · Synced Oct 23, 2026, 8:21 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Newborn Genomic Sequencing Pilot Study

NCT06276348
View directory record Official record
Conditions
Genetic Disease
Interventions
Whole genome sequencing, BeginNGS test, WES
Genetic
Lead sponsor
Rady Pediatric Genomics & Systems Medicine Institute
Other
Eligibility
1 Day to 10 Days
Enrollment
120 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2024
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Nov 14, 2024 · Synced Oct 23, 2026, 8:21 AM EDT
Available No phase listed Expanded access

Expanded Access To Neoantigen Synthetic Long Peptide Vaccines in Patients With Local Or Metastatic Solid Tumors

NCT06963697
View directory record Official record
Conditions
Cancer
Interventions
Personalized Synthetic Long Peptide Vaccine
Biological
Lead sponsor
Jaime Leandro Foundation for Therapeutic Cancer Vaccines
Other
Eligibility
12 Years and older
U.S. locations
1
States / cities
Austin, Texas
Source: ClinicalTrials.gov public record
Updated Jan 15, 2026 · Synced Oct 23, 2026, 8:21 AM EDT
Recruiting Not applicable Interventional

Individualized Treatment Plan in Children and Young Adults With Relapsed Medulloblastoma and Ependymoma

NCT05057702
View directory record Official record
Conditions
Medulloblastoma, Medulloblastoma, Childhood, Medulloblastoma Recurrent, Ependymoma, Ependymoma Malignant, Ependymoma of Brain
Interventions
Specialized Tumor Board Treatment Plan, Combinations
Other
Lead sponsor
University of California, San Francisco
Other
Eligibility
12 Months to 39 Years
Enrollment
74 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2028
U.S. locations
9
States / cities
Los Angeles, California • San Diego, California • San Francisco, California + 5 more
Source: ClinicalTrials.gov public record
Updated Aug 11, 2026 · Synced Oct 23, 2026, 8:21 AM EDT
Completed Phase 2Phase 3 Interventional

Oral Hypoglycemic Therapy for Monogenic Variant Carriers of the Joslin Medalist Study

NCT04409795
View directory record Official record
Conditions
Type 1 Diabetes, Monogenic Diabetes
Interventions
Metformin Extended Release Oral Tablet, Sitagliptin
Drug
Lead sponsor
Joslin Diabetes Center
Other
Eligibility
Up to 85 Years
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2024
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Feb 24, 2025 · Synced Oct 23, 2026, 8:21 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Genetics of Congenital Heart Disease

NCT01192048
View directory record Official record
Conditions
Congenital Heart Disease
Interventions
Blood Sample Collection
Other
Lead sponsor
Nationwide Children's Hospital
Other
Eligibility
Not listed
Enrollment
5,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2030
U.S. locations
1
States / cities
Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Apr 7, 2026 · Synced Oct 23, 2026, 8:21 AM EDT