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ClinicalTrials.gov public records Last synced Oct 30, 2026, 6:21 PM EDT

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Showing 1–24 of 32 matching trials from the live ClinicalTrials.gov search.
Filters: Intervention: Identification of genetic variants Clear all
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 30, 2026, 6:21 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 3, 2023 · Synced Oct 30, 2026, 6:21 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

An Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk and An Intervention to Help Patients and Their Primary Care Providers Stay Up-to-date About Uncertain Genetic Test Results

NCT05420064
View directory record Official record
Conditions
BRCA1 Mutation, POLD1 Gene Mutation, CDKN2A Mutation, BRCA2 Mutation, POLE Gene Mutation, APC Gene Mutation, ATM Gene Mutation, MLH1 Gene Mutation, BARD1 Gene Mutation, MSH2 Gene Mutation, BRIP1 Gene Mutation, MSH6 Gene Mutation, CHEK2 Gene Mutation, PMS2 Gene Mutation, PALB2 Gene Mutation, EPCAM Gene Mutation, RAD51C Gene Mutation, BMPR1A Gene Mutation, RAD51D Gene Mutation, SMAD4, PTEN Gene Mutation, GREM1
Interventions
Intervention Arm At-risk Relative/ARR Contacts, MyGene Portal, Standard of Care
Behavioral
Lead sponsor
Memorial Sloan Kettering Cancer Center
Other
Eligibility
25 Years and older
Enrollment
1,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2027
U.S. locations
8
States / cities
Basking Ridge, New Jersey • Middletown, New Jersey • Montvale, New Jersey + 4 more
Source: ClinicalTrials.gov public record
Updated Aug 27, 2026 · Synced Oct 30, 2026, 6:21 PM EDT
Not yet recruiting Not applicable Interventional

Expanding Genetic Access for Prostate Cancer Survivors

NCT07618520
View directory record Official record
Conditions
Prostate Cancer Patients, Hereditary Cancer, Genetic Testing
Interventions
Print Genetic Education Guide, Digital Guide Genetic Education Guide, Enhanced Usual Care
Behavioral
Lead sponsor
Georgetown University
Other
Eligibility
18 Years to 80 Years · Male only
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2030
U.S. locations
2
States / cities
Washington D.C., District of Columbia • New Brunswick, New Jersey
Source: ClinicalTrials.gov public record
Updated Jun 1, 2026 · Synced Oct 30, 2026, 6:21 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 17, 2026 · Synced Oct 30, 2026, 6:21 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Developing New Ways to Detect Respiratory Impairment Early in ALS

NCT07844590
View directory record Official record
Conditions
Amyotrophic Lateral Sclerosis (ALS)
Interventions
Not listed
Lead sponsor
Thomas Jefferson University
Other
Eligibility
18 Years and older
Enrollment
70 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2026 – 2028
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Sep 28, 2026 · Synced Oct 30, 2026, 6:21 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 4, 2026 · Synced Oct 30, 2026, 6:21 PM EDT
Enrolling by invitation Phase 4 Interventional Accepts healthy volunteers

Imaging Biomarkers of Pancreatic Function and Disease

NCT05659147
View directory record Official record
Conditions
Pancreatitis, Diabetes Mellitus
Interventions
Research MRI without administration of intravenous secretin, Research MRI with administration of intravenous secretin, Genetic Sequencing, Blood Tests, Stool Tests, Survey Completion, Endoscopic pancreatic function tests (ePFTs), Secretin
Diagnostic Test · Genetic · Other + 1 more
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
5 Years to 21 Years
Enrollment
195 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2027
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Mar 18, 2026 · Synced Oct 30, 2026, 6:21 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 6, 2026 · Synced Oct 30, 2026, 6:21 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 8, 2021 · Synced Oct 30, 2026, 6:21 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Genetic Studies of Early-onset Dementia

NCT04906863
View directory record Official record
Conditions
Dementia, Early Onset, Alzheimer Dementia (AD), Mild Cognitive Impairment (MCI), Memory Loss
Interventions
Blood draw, Neurocognitive testing, Medical questionnaire
Genetic · Other
Lead sponsor
Columbia University
Other
Eligibility
35 Years and older
Enrollment
1,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2028
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Apr 29, 2026 · Synced Oct 30, 2026, 6:21 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 18, 2026 · Synced Oct 30, 2026, 6:21 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 15, 2022 · Synced Oct 30, 2026, 6:21 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Mayo AVC Registry and Biobank

NCT03049254
View directory record Official record
Conditions
Arrhythmogenic Right Ventricular Cardiomyopathy, Cardiomyopathies, Heart Diseases, Cardiovascular Diseases, Sudden Cardiac Arrest, Sudden Cardiac Death, Arrhythmogenic Right Ventricular Dysplasia, Arrhythmogenic Ventricular Cardiomyopathy, Familial Dilated Cardiomyopathy, Cardiovascular Abnormalities, Sarcoidosis, Cardiac Arrhythmia, Cardiac Sarcoidosis, Myocarditis, Inflammatory Cardiomyopathy, Ventricular Tachycardia, Right Ventricular Outflow Tract Ventricular Tachycardia
Interventions
Not listed
Lead sponsor
Mayo Clinic
Other
Eligibility
Not listed
Enrollment
1,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2027
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Apr 27, 2026 · Synced Oct 30, 2026, 6:21 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 30, 2025 · Synced Oct 30, 2026, 6:21 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 4, 2017 · Synced Oct 30, 2026, 6:21 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 15, 2026 · Synced Oct 30, 2026, 6:21 PM 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 30, 2026, 6:21 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 7, 2023 · Synced Oct 30, 2026, 6:21 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 26, 2026 · Synced Oct 30, 2026, 6:21 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 11, 2025 · Synced Oct 30, 2026, 6:21 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 8, 2012 · Synced Oct 30, 2026, 6:21 PM EDT
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 27, 2025 · Synced Oct 30, 2026, 6:21 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
5
States / cities
Scottsdale, Arizona • Jacksonville, Florida • Rochester, Minnesota + 2 more
Source: ClinicalTrials.gov public record
Updated Oct 16, 2026 · Synced Oct 30, 2026, 6:21 PM EDT