Genetics of Appendix Cancer Study

Recruiting

• Conditions: High Grade Appendix Mucinous Neoplasm; Appendiceal Neoplasm Malignant Secondary; Low-Grade Appendix Mucinous Neoplasm; High Grade Appendix Mucinous Adenocarcinoma; Appendiceal Cancer; Appendiceal Mucinous Neoplasm; Appendix Mucinous Neoplasm; Appendiceal Neoplasms; Appendix Tumor; Appendix Cancer
• Interventions: Genetic: Genetic profiling; Other: Retrospective tissue procurement

• Registration Number: NCT05734430
• Lead Sponsor: Andreana Holowatyj, PhD, MSCI

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.

Detailed Description

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.

Study Timeline

• Study Start: 2022-11-11
• Study First Submitted: 2023-02-08
• Study First Submitted QC: 2023-02-08
• Study First Posted: 2023-02-21
• Status Verified: 2025-04
• Last Update Submitted: 2025-04-15
• Last Update Posted: 2025-04-18
• Primary Completion: 2032-11
• Study Completion: 2034-11

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 700

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

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
GAP Social	Genetic profiling	Individuals ages 18+ years with an appendix cancer diagnosis in the United States.
GAP Vanderbilt	Genetic profiling	Individuals ages 18+ years with an appendix cancer diagnosis seen at Vanderbilt.
GAP Vanderbilt	Retrospective tissue procurement	Individuals ages 18+ years with an appendix cancer diagnosis seen at Vanderbilt.
GAP Parent	Genetic profiling	Biological parents of active GAP (Social and Vanderbilt) Study participants.
GAP Social	Retrospective tissue procurement	Individuals ages 18+ years with an appendix cancer diagnosis in the United States.

Primary Outcome Measures

Name	Time	Method
Prevalence and spectrum of pathogenic and likely pathogenic germline variants in appendix cancer patients and their biological parents	Within 6 years of study enrollment

Secondary Outcome Measures

Name	Time	Method
Association of germline genetic variants with clinical, pathologic and molecular features of appendix tumors	Within 6 years of study enrollment

Trial Locations

Locations (1)

Vanderbilt-Ingram Cancer Center; 🇺🇸 Nashville, Tennessee, United States