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Showing 1–24 of 188 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Genetic Predisposition Clear all
Completed No phase listed Observational

Application of a Systematic Developmental Assessment to a Novel Population: Infants With Rare Genetic Disorders

NCT03967743
View directory record Official record
Conditions
Genetic Disease, Genetic Syndrome, Genetic Predisposition to Disease, Development, Infant, Development, Child
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Up to 4 Years
Enrollment
43 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2026
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jun 1, 2026 · Synced Sep 4, 2026, 8:03 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Michigan Genetic Hereditary Testing (MiGHT)

NCT05162846
View directory record Official record
Conditions
Breast Cancer, Colorectal Cancer, Ovarian Cancer, Prostate Cancer, Pancreatic Cancer, Endometrial Cancer, History of Cancer
Interventions
Publicly available genetic testing resources, Virtual genetics navigator, Motivational interviewing (MI)
Other · Behavioral
Lead sponsor
University of Michigan Rogel Cancer Center
Other
Eligibility
18 Years and older
Enrollment
793 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2025
U.S. locations
1
States / cities
Ann Arbor, Michigan
Source: ClinicalTrials.gov public record
Updated Aug 17, 2026 · Synced Sep 4, 2026, 8:03 PM EDT
Completed No phase listed Observational

The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control Study

NCT00071903
View directory record Official record
Conditions
Pseudotumor Cerebri, Cystinosis
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
2 Years to 50 Years
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2008
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 1, 2017 · Synced Sep 4, 2026, 8:03 PM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Study of Genetic Risk Factors for Spina Bifida and Anencephaly

NCT00031122
View directory record Official record
Conditions
Spina Bifida, Anencephaly
Interventions
No Intervention
Other
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Not listed
Enrollment
1,100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2000 – 2012
U.S. locations
2
States / cities
Philadelphia, Pennsylvania • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Oct 4, 2010 · Synced Sep 4, 2026, 8:03 PM EDT
Recruiting No phase listed Observational

Long-term Safety of Nipple Sparing Mastectomy in Women With High Penetrance Breast Cancer Susceptibility Genes in Breast Cancer

NCT06888388
View directory record Official record
Conditions
Breast Cancer Surgery
Interventions
Nipple Sparing Mastectomy (NSM), Skin-Sparing Mastectomy (SSM), Total (Simple) Mastectomy
Procedure
Lead sponsor
Sir Mortimer B. Davis - Jewish General Hospital
Other
Eligibility
18 Years to 90 Years · Female only
Enrollment
4,700 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
5
States / cities
New Haven, Connecticut • Boston, Massachusetts • New York, New York + 2 more
Source: ClinicalTrials.gov public record
Updated Aug 17, 2026 · Synced Sep 4, 2026, 8:03 PM EDT
Active, not recruiting Phase 1 Interventional Accepts healthy volunteers

This Study Consists of Two Study Parts Conducted Under a Single IRB. Part I: Short Term ApoE-dependent Cerebral Blood Flow Response to Sirolimus in Cognitively Normal Adults Part II: Short Term ApoE-dependent Cerebral Blood Flow and Lung Perfusion Response to Sirolimus in Cognitively Normal Adults

NCT05386914
View directory record Official record
Conditions
Genetic Predisposition to Disease, Healthy Volunteers
Interventions
Sirolimus
Drug
Lead sponsor
University of Missouri-Columbia
Other
Eligibility
45 Years to 65 Years
Enrollment
205 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2027
U.S. locations
1
States / cities
Columbia, Missouri
Source: ClinicalTrials.gov public record
Updated Mar 5, 2026 · Synced Sep 4, 2026, 8:03 PM EDT
Terminated No phase listed Observational

Genetic Susceptibility to Kidney Cancer

NCT00854022
View directory record Official record
Conditions
Renal Cell Carcinoma
Interventions
Not listed
Lead sponsor
Baylor College of Medicine
Other
Eligibility
18 Years and older
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2013
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Feb 24, 2020 · Synced Sep 4, 2026, 8:03 PM EDT
Terminated No phase listed Observational Accepts healthy volunteers

Peripheral Blood Biomarkers in Idiopathic Interstitial Pneumonias

NCT01151527
View directory record Official record
Conditions
Idiopathic Interstitial Pneumonias
Interventions
Not listed
Lead sponsor
Duke University
Other
Eligibility
18 Years and older
Enrollment
269 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2010 – 2013
U.S. locations
2
States / cities
Denver, Colorado • Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Sep 8, 2015 · Synced Sep 4, 2026, 8:03 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Early Detection of GEnetic Risk (EDGE)

NCT04746794
View directory record Official record
Conditions
Genetic Predisposition
Interventions
Population-level screening
Behavioral
Lead sponsor
University of Washington
Other
Eligibility
25 Years and older
Enrollment
20,184 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2023
U.S. locations
2
States / cities
Billings, Montana • Tacoma, Washington
Source: ClinicalTrials.gov public record
Updated Oct 8, 2024 · Synced Sep 4, 2026, 8:03 PM EDT
Active, not recruiting Not applicable Interventional Accepts healthy volunteers

Effectiveness of MyCancerGene to Optimize Genetic Testing Outcomes

NCT04774445
View directory record Official record
Conditions
Cancer, Genetic Predisposition
Interventions
MyCancerGene
Behavioral
Lead sponsor
Abramson Cancer Center at Penn Medicine
Other
Eligibility
18 Years and older
Enrollment
400 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2026
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Feb 9, 2025 · Synced Sep 4, 2026, 8:03 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer

NCT00033137
View directory record Official record
Conditions
Kidney Neoplasms, Kidney Cancer, Pneumothorax, FLCN Protein, Human
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
2 Years and older
Enrollment
950 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2002
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 17, 2026 · Synced Sep 4, 2026, 8:03 PM EDT
Recruiting No phase listed Observational

Genetic Variants and Susceptibility to Diseases of Prematurity in Very Low Birth-Weight Infants

NCT00710112
View directory record Official record
Conditions
Chronic Lung Disease
Interventions
gene variations
Genetic
Lead sponsor
Medical College of Wisconsin
Other
Eligibility
Not listed
Enrollment
1,100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2028
U.S. locations
1
States / cities
Milwaukee, Wisconsin
Source: ClinicalTrials.gov public record
Updated Jan 25, 2026 · Synced Sep 4, 2026, 8:03 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Enabling Personalized Medicine Through Exome Sequencing in the U.S. Air Force

NCT03276637
View directory record Official record
Conditions
Healthy Adults, Genetic Predisposition to Disease
Interventions
Whole exome sequencing
Genetic
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
18 Years and older
Enrollment
105 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2020
U.S. locations
3
States / cities
Boston, Massachusetts • Houston, Texas • San Antonio, Texas
Source: ClinicalTrials.gov public record
Updated Oct 1, 2024 · Synced Sep 4, 2026, 8:03 PM EDT
Completed No phase listed Observational

Gene Analysis in Studying Susceptibility to Wilms Tumor

NCT01808079
View directory record Official record
Conditions
Recurrent Childhood Kidney Neoplasm, Stage I Kidney Wilms Tumor, Stage II Kidney Wilms Tumor, Stage III Kidney Wilms Tumor, Stage IV Kidney Wilms Tumor
Interventions
Laboratory Biomarker Analysis
Other
Lead sponsor
Children's Oncology Group
Network
Eligibility
Not listed
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Aug 21, 2016 · Synced Sep 4, 2026, 8:03 PM EDT
Completed No phase listed Observational

Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols

NCT01375543
View directory record Official record
Conditions
Genetic Predisposition
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Not listed
Enrollment
128 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2019
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jan 5, 2020 · Synced Sep 4, 2026, 8:03 PM EDT
Completed No phase listed Observational

Evaluating an Alternative Clinical Genetics Cancer Care Deliver Model

NCT03934606
View directory record Official record
Conditions
Pancreas Cancer, Prostate Cancer, Hereditary Cancer, Genetic Predisposition to Disease
Interventions
Genetic testing for hereditary predisposition
Behavioral
Lead sponsor
Abramson Cancer Center at Penn Medicine
Other
Eligibility
18 Years and older
Enrollment
1,488 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2025
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Apr 9, 2025 · Synced Sep 4, 2026, 8:03 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Lung Mucus Hypersecretion and NQO1

NCT00729352
View directory record Official record
Conditions
Environmental Exposure, Ozone, Air Pollution, Genetic Susceptibility
Interventions
Not listed
Lead sponsor
National Institute of Environmental Health Sciences (NIEHS)
NIH
Eligibility
18 Years to 35 Years
Enrollment
60 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2008 – 2012
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Sep 28, 2014 · Synced Sep 4, 2026, 8:03 PM EDT
Recruiting Phase 4 Interventional Accepts healthy volunteers

GLUCOSE-MGH: Genetic Links Understood Through Challenge With Oral Semaglutide Exposure at MGH

NCT06003153
View directory record Official record
Conditions
Genetic Predisposition, Metabolic Diseases, Type 2 Diabetes
Interventions
oral semaglutide, Mixed Meal Tolerance Test (MMTT)
Drug · Other
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
18 Years to 65 Years
Enrollment
125 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2027
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jul 7, 2026 · Synced Sep 4, 2026, 8:03 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Natural History of Bronchiectasis

NCT00943514
View directory record Official record
Conditions
Bronchiectasis, Cystic Fibrosis, Autoimmune Disease, Common Variable Immunodeficiency
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
5 Years to 100 Years
Enrollment
900 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2009
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 31, 2026 · Synced Sep 4, 2026, 8:03 PM EDT
Recruiting No phase listed Observational

Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight

NCT01238250
View directory record Official record
Conditions
16P11.2 Deletion Syndrome, 16p11.2 Duplications, 1Q21.1 Deletion, 1Q21.1 Microduplication Syndrome (Disorder), ACTL6B, ADNP, AHDC1, ANK2, ANKRD11, ARID1B, ASH1L, BCL11A, CHAMP1, CHD2, CHD8, CSNK2A1, CTBP1, CTNNB1 Gene Mutation, CUL3, DDX3X, DNMT3A, DSCAM, DYRK1A, FOXP1, GRIN2A, GRIN2B, HIVEP2-Related Intellectual Disability, HNRNPH2, KATNAL2, KDM5B, KDM6B, KMT2C Gene Mutation, KMT2E, KMT5B, MBD5, MED13L, PACS1, PPP2R5D-Related Intellectual Disability, PTCHD1, REST, SCN2A Encephalopathy, SETBP1 Gene Mutation, SETD5, SMARCA4 Gene Mutation, SMARCC2, STXBP1 Encephalopathy With Epilepsy, SYNGAP1-Related Intellectual Disability, TBR1, ARHGEF9, HNRNPU, PPP3CA, PPP2R1A, SLC6A1, 2p16.3 Deletions, 5q35 Deletions, 5q35 Duplications, 7q11.23 Duplications, 15Q13.3 Deletion Syndrome, 16p11.2 Triplications, 16P12.2 Microdeletion, 16P13.11 Microdeletion Syndrome (Disorder), 17Q12 Microdeletion Syndrome (Disorder), 17Q12 Duplication Syndrome, 17Q21.31 Deletion Syndrome, 17q21.3 Duplications, ACTB, ADSL, AFF2, ALDH5A1, ANK3, ARX, ATRX Gene Mutation, AUTS2 Syndrome, BCKDK, BRSK2, CACNA1C, CAPRIN1, CASK, CASZ1, CHD3, CIC, CNOT3, CREBBP Gene Mutation, CSDE1, CTCF, DEAF1, DHCR7, DLG4, EBF3, EHMT1, EP300 Gene Mutation, GIGYF1, GRIN1, GRIN2D, IQSEC2-Related Syndromic Intellectual Disability, IRF2BPL, KANSL1, KCNB1, KDM3B, NEXMIF, KMT2A, MBOAT7, MEIS2, MYT1L, NAA15, NBEA, NCKAP1, NIPBL, NLGN2, NLGN3, NLGN4X, NR4A2, NRXN1, NRXN2, NSD1 Gene Mutation, PHF21A, PHF3, PHIP, PSMD12, RELN, RERE, RFX3, RIMS1, RORB, SCN1A, SETD2 Gene Mutation, SHANK2, SIN3A, SLC9A6, SON, SOX5, SPAST, SRCAP, TAOK1, TANC2, TCF20, TLK2, TRIO, TRIP12, UPF3B, USP9X, VPS13B, WAC, WDFY3, ZBTB20, ZNF292, ZNF462, 2Q37 Deletion Syndrome, 9q34 Duplications, 15q15 Deletions, 15Q24 Deletion, NR3C2, SYNCRIP, 2q37.3 Deletion, 6q16 Deletion, 15q11.2 BP1-BP2 Deletion, 16p13.3 Deletion, 17Q11.2 Microduplication Syndrome (Disorder), 17p13.3, Xq28 Duplication, CLCN4, CSNK2B, DYNC1H1, EIF3F, GNB1, MED13, MEF2C, RALGAPB, SCN1B, YY1, Xp11.22 Duplication, PACS2, MAOA, MAOB, HNRNPC, HNRNPD, HNRNPK, HNRNPR, HNRNPUL2, 5P Deletion Syndrome, TCF7L2 Gene Mutation, HECW2, PPM1D, RNU4-2, SNAP25, FOXP2, ITSN1
Interventions
Not listed
Lead sponsor
Simons Searchlight
Other
Eligibility
Not listed
Enrollment
100,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2050
U.S. locations
2
States / cities
Boston, Massachusetts • Lewisburg, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jul 22, 2026 · Synced Sep 4, 2026, 8:03 PM EDT
Completed Not applicable Interventional Results available

Educational Video for Genetic Testing

NCT05472714
View directory record Official record
Conditions
Genetic Disease, Cancer
Interventions
Educational Video
Other
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
12 Years and older
Enrollment
359 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jun 15, 2026 · Synced Sep 4, 2026, 8:03 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Genes and Environment in Multiple Sclerosis

NCT01353547
View directory record Official record
Conditions
Multiple Sclerosis
Interventions
Not listed
Lead sponsor
Columbia University
Other
Eligibility
18 Years and older
Enrollment
5,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2040
U.S. locations
5
States / cities
Bethesda, Maryland • Boston, Massachusetts • New York, New York + 1 more
Source: ClinicalTrials.gov public record
Updated May 13, 2026 · Synced Sep 4, 2026, 8:03 PM EDT
Active, not recruiting No phase listed Observational Accepts healthy volunteers

Genetic Susceptibility to Bladder Cancer

NCT00848289
View directory record Official record
Conditions
Bladder Cancer
Interventions
Interviews
Behavioral
Lead sponsor
M.D. Anderson Cancer Center
Other
Eligibility
Not listed
Enrollment
6,086 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
1998 – 2026
U.S. locations
2
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jul 15, 2026 · Synced Sep 4, 2026, 8:03 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Healthy Volunteers Study

NCT06962059
View directory record Official record
Conditions
Ovarian Cancer, Genetic Predisposition to Disease
Interventions
Self-Administered Sample Collection
Other
Lead sponsor
Abramson Cancer Center at Penn Medicine
Other
Eligibility
30 Years to 50 Years · Female only
Enrollment
50 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2027
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Feb 4, 2026 · Synced Sep 4, 2026, 8:03 PM EDT