Skip to main content
OpenTrials
Recruiting

NCT Number: NCT05734430

Genetics of Appendix Cancer Study

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.

Recruiting

Interested in participating?

Request Info

Key information

Conditions

Appendix Cancer Adenocarcinoma Adenocarcinoma, Mucinous Appendiceal Adenocarcinoma Appendiceal Cancer Appendiceal Carcinoid Tumor Appendiceal Mucinous Neoplasm Appendiceal Neoplasm Malignant Secondary Appendiceal Neoplasms Appendix Adenocarcinoma Appendix Cancer Metastatic Appendix Mucinous Neoplasm Appendix NET Appendix Tumor Carcinoma Cecal Diseases Cecal Neoplasms Digestive System Diseases Digestive System Neoplasms Gastrointestinal Diseases Gastrointestinal Neoplasms High Grade Appendix Mucinous Adenocarcinoma High Grade Appendix Mucinous Neoplasm Intestinal Diseases Intestinal Neoplasms Low-Grade Appendix Mucinous Neoplasm Neoplasms Neoplasms by Histologic Type Neoplasms by Site Neoplasms, Cystic, Mucinous, and Serous Neoplasms, Glandular and Epithelial

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Vanderbilt-Ingram Cancer Center

Nashville, Tennessee, 37232, United States

Location status: Recruiting

Location contact

Andreana N Holowatyj, PhD, MSCI

PRINCIPAL_INVESTIGATOR

GAP Study Coordinator (Rebecca B.)

CONTACT

[email protected]

615-936-8544

About this study

The Genetics of Appendix Cancer (GAP) Study aims to analyze hereditary factors, tumor characteristics and clinical features/outcomes among adults diagnosed with appendix cancer and their biological parents. Patients are recruited at any time after a diagnosis of appendix cancer and followed for up to 6 years after study enrollment. This cohort is enriched by robust biospecimens and data collections.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Genetic profiling

Genetic

Whole exome sequencing

Retrospective tissue procurement

Other

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

Primary outcomes

  1. 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

Secondary outcomes

  1. Association of germline genetic variants with clinical, pathologic and molecular features of appendix tumors

    Time frame: Within 6 years of study enrollment

Study contacts

Contact information is provided by the study sponsor or research team.

GAP Study Coordinator (Rebecca B.)

CONTACT

[email protected]

615-936-8544

Sponsors and collaborators

Lead sponsor

Andreana Holowatyj, PhD, MSCI

Other

Registry information

Official study title

Genetics of Appendix Cancer: The GAP Study

Acronym: GAP

Important dates

Study start
2022
Primary completion
2032
Study completion
2034
First posted
Feb 21, 2023
Registry last updated
Apr 18, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.