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Showing 1–24 of 31 matching trials from the live ClinicalTrials.gov search.
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Filters: Intervention: Identification of genetic variants Clear all
Completed No phase listed Observational

Clinical Validation of a Blood Biomarker Test to Detect Early-Stage Pancreatic Cancer (VERIFI)

NCT06947395
View directory record Official record
Conditions
Cancer of the Pancreas, Pancreatic Cancer, Pancreas Neoplasms, Pancreatic Carcinoma Stage I, Pancreatic Carcinoma Stage II
Interventions
PancreaSure
Diagnostic Test
Lead sponsor
Immunovia, Inc.
Industry
Eligibility
45 Years and older
Enrollment
386 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025
U.S. locations
6
States / cities
Scottsdale, Arizona • New York, New York • Pittsburgh, Pennsylvania + 3 more
Source: ClinicalTrials.gov public record
Updated Apr 26, 2025 · Synced Sep 12, 2026, 9:30 PM EDT
Completed No phase listed Observational

Myotubular Myopathy Genetic Testing Study

NCT01817946
View directory record Official record
Conditions
Myotubular Myopathy
Interventions
Genetic Testing
Other
Lead sponsor
Cure CMD
Other
Eligibility
30 Days and older
Enrollment
23 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2017
U.S. locations
1
States / cities
Torrance, California
Source: ClinicalTrials.gov public record
Updated Mar 6, 2018 · Synced Sep 12, 2026, 9:30 PM EDT
Not listed No phase listed Observational

Validation of Optical Genome Mapping for the Identification of Constitutional Genomic Variants in a Postnatal Cohort

NCT05295277
View directory record Official record
Conditions
Developmental Disability, Intellectual Disability, Autism Spectrum Disorder, Congenital Anomaly, Fragile X Syndrome, Facioscapulohumeral Muscular Dystrophy 1
Interventions
Standard of care genetic testing group
Other
Lead sponsor
Bionano Genomics
Industry
Eligibility
Not listed
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2024
U.S. locations
8
States / cities
Atlanta, Georgia • Augusta, Georgia • Iowa City, Iowa + 5 more
Source: ClinicalTrials.gov public record
Updated Aug 6, 2023 · Synced Sep 12, 2026, 9:30 PM EDT
Recruiting No phase listed Observational

INTERogating Cancer for Etiology, Prevention and Therapy Navigation

NCT06008392
View directory record Official record
Conditions
Cancer, Cancer Gene Mutation, PAN Gene Mutation, Hematopoietic and Lymphoid System Neoplasm, Malignant Solid Neoplasm
Interventions
Pan-genomic Testing
Genetic
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years and older
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2033
U.S. locations
3
States / cities
Scottsdale, Arizona • Jacksonville, Florida • Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Apr 6, 2026 · Synced Sep 12, 2026, 9:30 PM EDT
Completed No phase listed Observational

Evaluating a Pharmacogenetic Testing Panel in Patients Suspected to be at Increased Risk for Pharmacogenetics-related AEs While Receiving Fluoropyrimidine or Irinotecan Therapy

NCT05583422
View directory record Official record
Conditions
Cancer
Interventions
DPYD or UGT1A1 variants
Genetic
Lead sponsor
University of Michigan Rogel Cancer Center
Other
Eligibility
18 Years and older
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2024
U.S. locations
1
States / cities
Ann Arbor, Michigan
Source: ClinicalTrials.gov public record
Updated May 10, 2025 · Synced Sep 12, 2026, 9:30 PM EDT
Recruiting No phase listed Observational

Genomic Analysis of Families With a History of Discordant Cancers

NCT04860453
View directory record Official record
Conditions
Discordant Cancers
Interventions
WES via Illumina NextSeq 550 sequencing system, Blood Draw, Skin biopsy, Saliva Sample
Genetic · Diagnostic Test
Lead sponsor
Case Comprehensive Cancer Center
Other
Eligibility
18 Years to 100 Years
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2028
U.S. locations
1
States / cities
Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Sep 2, 2025 · Synced Sep 12, 2026, 9:30 PM EDT
Recruiting No phase listed Observational

Investigating Hereditary Risk In Thoracic Cancers (INHERIT)

NCT05587439
View directory record Official record
Conditions
Lung Cancer, Genetic Disease, Genetic Predisposition, Hereditary Diseases
Interventions
Data and Specimen Collection
Genetic
Lead sponsor
Dana-Farber Cancer Institute
Other
Eligibility
18 Years and older
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
2
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Aug 25, 2026 · Synced Sep 12, 2026, 9:30 PM EDT
Completed Not applicable Interventional

A Prospective Trial to Assess Cost and Clinical Outcomes of a Clinical Pharmacogenomic Program

NCT02297126
View directory record Official record
Conditions
Adverse Drug Reaction
Interventions
Pharmacogenetic Intervention Arm (pharmacogenetic testing)
Other
Lead sponsor
Indiana University
Other
Eligibility
18 Years and older
Enrollment
4,465 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2019
U.S. locations
1
States / cities
Indianapolis, Indiana
Source: ClinicalTrials.gov public record
Updated Jan 7, 2021 · Synced Sep 12, 2026, 9:30 PM EDT
Completed Phase 2Phase 3 Interventional Results available

Applying Pharmacogenetic Algorithms to Individualize Dosing of Warfarin

NCT00927862
View directory record Official record
Conditions
Thromboembolism
Interventions
IWPC adapted genotype-guided dosing algorithm for warfarin, Modified IWPC genetic-guided warfarin dosing algorithm, Standard of care treatment
Genetic · Other
Lead sponsor
Intermountain Health Care, Inc.
Other
Eligibility
18 Years and older
Enrollment
2,415 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2011
U.S. locations
1
States / cities
Salt Lake City, Utah
Source: ClinicalTrials.gov public record
Updated Sep 24, 2012 · Synced Sep 12, 2026, 9:30 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Clinical Validation of the Role of microRNA Binding Site Mutations in Cancer Risk, Prevention and Treatment

NCT02253251
View directory record Official record
Conditions
Cancer
Interventions
KRAS-variant and microRNA binding site mutation testing
Genetic
Lead sponsor
MiraKind
Other
Eligibility
18 Years and older
Enrollment
15,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2035
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Jan 22, 2025 · Synced Sep 12, 2026, 9:30 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Pharmacogenomic-Guided Supportive Care in Hematopoietic Cell Transplantation

NCT04727827
View directory record Official record
Conditions
Hematopoietic Cell Transplantation, Oncology
Interventions
Pharmacogenomic-guided supportive care
Other
Lead sponsor
Wake Forest University Health Sciences
Other
Eligibility
18 Years and older
Enrollment
110 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2023
U.S. locations
1
States / cities
Charlotte, North Carolina
Source: ClinicalTrials.gov public record
Updated Aug 2, 2023 · Synced Sep 12, 2026, 9:30 PM EDT
Completed No phase listed Observational

Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders

NCT04399694
View directory record Official record
Conditions
Genetic Disease, Inborn Errors of Metabolism, Glycogen Storage Disease, Lysosomal Storage Diseases, Storage Disease
Interventions
Not listed
Lead sponsor
Duke University
Other
Eligibility
Not listed
Enrollment
56 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2024
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jan 14, 2026 · Synced Sep 12, 2026, 9:30 PM EDT
Completed No phase listed Observational

Surfactant Protein Genetic Variants in COVID-19 Infection

NCT04650191
View directory record Official record
Conditions
Coronavirus Infection
Interventions
Identification of genetic variants
Other
Lead sponsor
Milton S. Hershey Medical Center
Other
Eligibility
1 Day to 90 Years
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2022
U.S. locations
1
States / cities
Hershey, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Sep 14, 2022 · Synced Sep 12, 2026, 9:30 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

A Longitudinal, Observational Study of Primary Ciliary Dyskinesia in Adults

NCT05685186
View directory record Official record
Conditions
Primary Ciliary Dyskinesia
Interventions
Spirometry, Multiple Breath Washout (MBW), Mucociliary Clearance (MCC), CT of the chest, MRI of the chest
Diagnostic Test
Lead sponsor
ReCode Therapeutics
Industry
Eligibility
18 Years to 60 Years
Enrollment
31 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2025
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated May 3, 2026 · Synced Sep 12, 2026, 9:30 PM EDT
Recruiting No phase listed Observational

Genetic Analysis of Keloids

NCT01619553
View directory record Official record
Conditions
Keloid
Interventions
Not listed
Lead sponsor
UConn Health
Other
Eligibility
Not listed
Enrollment
7,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2030
U.S. locations
1
States / cities
Farmington, Connecticut
Source: ClinicalTrials.gov public record
Updated Apr 14, 2026 · Synced Sep 12, 2026, 9:30 PM EDT
Completed No phase listed Observational

Cancer Genetics Hereditary Cancer Panel Testing

NCT02324062
View directory record Official record
Conditions
Hereditary Breast and Ovarian Cancer
Interventions
Questionnaires, Blood Draw and Baseline Questionnaire
Other
Lead sponsor
University of Southern California
Other
Eligibility
Not listed
Enrollment
1,511 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2020
U.S. locations
2
States / cities
Los Angeles, California • Stanford, California
Source: ClinicalTrials.gov public record
Updated Feb 17, 2026 · Synced Sep 12, 2026, 9:30 PM EDT
Terminated No phase listed Observational

ARTEMIS: Study of Patients With Early Stage Pancreatic Cancer Who Have Undergone Genetic Testing

NCT05380557
View directory record Official record
Conditions
Pancreatic Adenocarcinoma, Pancreatic Cancer, Resectable Pancreatic Cancer
Interventions
Germline genetic testing
Diagnostic Test
Lead sponsor
Invitae Corporation
Industry
Eligibility
18 Years and older
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2022
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Dec 6, 2022 · Synced Sep 12, 2026, 9:30 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Study to Estimate How Common it is to Have Genetic Variants Associated With NAFLD

NCT04494360
View directory record Official record
Conditions
Healthy
Interventions
No intervention
Other
Lead sponsor
Janssen Research & Development, LLC
Industry
Eligibility
18 Years to 65 Years
Enrollment
830 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2022
U.S. locations
3
States / cities
Hollywood, Florida • Lenexa, Kansas • San Antonio, Texas
Source: ClinicalTrials.gov public record
Updated Mar 29, 2025 · Synced Sep 12, 2026, 9:30 PM EDT
Completed Not applicable Interventional

DNA Changes That Affect Vitamin D Metabolism in Patients With Colorectal Cancer Receiving Vitamin D Supplements

NCT00550563
View directory record Official record
Conditions
Colorectal Cancer
Interventions
cholecalciferol, polymerase chain reaction, polymorphism analysis, protein expression analysis, reverse transcriptase-polymerase chain reaction, western blotting, high performance liquid chromatography, laboratory biomarker analysis, pharmacological study, adjuvant therapy, immunoscintigraphy
Dietary Supplement · Genetic · Other + 1 more
Lead sponsor
Roswell Park Cancer Institute
Other
Eligibility
18 Years to 120 Years
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2010
U.S. locations
1
States / cities
Buffalo, New York
Source: ClinicalTrials.gov public record
Updated Apr 3, 2017 · Synced Sep 12, 2026, 9:30 PM EDT
Enrolling by invitation Not applicable Interventional

Genome Sequencing in the Intensive Care Unit Population

NCT04848090
View directory record Official record
Conditions
Infant, Newborn, Disease, Genetic Disease
Interventions
Neonate WGS Testing
Diagnostic Test
Lead sponsor
Jerry Vockley, MD, PhD
Other
Eligibility
Up to 1 Year
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2027
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jan 8, 2026 · Synced Sep 12, 2026, 9:30 PM EDT
Completed Phase 1 Interventional

Implementation of a Personalized Medicine (Pharmacogenomics) Service in a Community Pharmacy

NCT01495845
View directory record Official record
Conditions
Stroke, Transient Ischemic Attack, Myocardial Infarction
Interventions
Pharmacogenomics testing for clopidogrel responsiveness
Other
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
18 Years and older
Enrollment
48 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2012
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jun 7, 2012 · Synced Sep 12, 2026, 9:30 PM 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 13, 2026 · Synced Sep 12, 2026, 9:30 PM EDT
Completed No phase listed Observational

Prospective Phenotyping for Genetic Subtypes of Early-onset Atrial Fibrillation

NCT05190679
View directory record Official record
Conditions
Atrial Fibrillation
Interventions
None/Observational Studies
Other
Lead sponsor
Vanderbilt University Medical Center
Other
Eligibility
15 Years and older
Enrollment
155 participants
Timeline
2022 – 2026
U.S. locations
1
States / cities
Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated May 5, 2026 · Synced Sep 12, 2026, 9:30 PM EDT
Enrolling by invitation Not applicable Interventional

Uncovering the Etiologies of Non-immune Hydrops Fetalis

NCT05528796
View directory record Official record
Conditions
Non-Immune Hydrops Fetalis
Interventions
Whole genome sequencing
Diagnostic Test
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years to 60 Years
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Apr 16, 2026 · Synced Sep 12, 2026, 9:30 PM EDT