Recruiting

Genetics Study

Sponsor:

Andreana Holowatyj, PhD, MSCI

Code:

NCT05734430

Conditions

Appendix Cancer

Appendiceal Cancer

Appendiceal Neoplasms

Appendiceal Mucinous Neoplasm

Appendiceal Adenocarcinoma

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Accepted

Interventions

Genetic profiling

Retrospective tissue procurement

Study Details

Brief summary:

The GAP Study is a prospective cohort study designed to comprehensively investigate genetic variations that may contribute to cancer development among individuals diagnosed with appendix/appendiceal cancer who are ages 18+ years.

Conditions

Appendix Cancer

Appendiceal Cancer

Appendiceal Neoplasms

Appendiceal Mucinous Neoplasm

Appendiceal Adenocarcinoma

Study ID

NCT05734430

Start date

Nov 11, 2022

Status verified date

Apr, 2025

Completion date

Nov, 2034

Anticipated

Primary completion date

Nov, 2032

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Accepted

Inclusion Criteria:

GAP Social

  • Known diagnosis of appendix cancer in the United States
  • Mentally and physically able to consent and participate in the study

GAP Vanderbilt

  • Known diagnosis of appendix cancer
  • Diagnosed by and/or consulting with a physician/clinical provider participating in the GAP Study
  • Mentally and physically able to consent and participate in the study

GAP Parent

  • Biological parents (mother and/or father) of individuals actively participating in the GAP Study
  • Residing in the United States
  • Mentally and physically able to consent and participate in the study

Exclusion Criteria:

  • Women pregnant at the time of consent
  • Prisoners
  • Unable to provide informed consent
  • Unable to read, write, or complete questionnaires in English

Study Design

Enrollment

700 participants

Anticipated

Interventions and Outcome Measures

Arms

GAP Social

Individuals ages 18+ years with an appendix cancer diagnosis in the United States.

GAP Vanderbilt

Individuals ages 18+ years with an appendix cancer diagnosis seen at Vanderbilt.

GAP Parent

Biological parents of active GAP (Social and Vanderbilt) Study participants.

Interventions

Genetic profiling

Whole exome sequencing

Retrospective tissue procurement

Collection of archived fixed-formalin, paraffin-embedded (FFPE) primary appendix tumor tissues that were previously removed

Primary outcome measure

  • Prevalence and spectrum of pathogenic and likely pathogenic germline variants in appendix cancer patients and their biological parents [ Time Frame: Within 6 years of study enrollment ]

Central Contacts and Locations

Central contacts

GAP Study Coordinator (Rebecca B.)

615-936-8544gapcancerstudy@vumc.org

Locations

Vanderbilt-Ingram Cancer Center

Recruiting

Nashville, Tennessee, United States, 37232

Contacts

GAP Study Coordinator (Rebecca B.)

615-936-8544gapcancerstudy@vumc.org

Principal Investigator:

Andreana N Holowatyj, PhD, MSCI

More Information

Sponsor

Andreana Holowatyj, PhD, MSCI

Last update posted

Apr 18, 2025

Last verified

Apr, 2025

Keywords

  • Genetics

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Andreana Holowatyj, PhD, MSCI on 2025-04-18.