GAP: Genetics of Appendix Cancer Study

Sponsor

Andreana Holowatyj, PhD, MSCI (Other)

Overall Status

Recruiting

CT.gov ID

NCT05734430

Collaborator

(none)

700

Enrollment

Location

143.7

Anticipated Duration (Months)

4.9

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Appendix Cancer Appendiceal Cancer Appendiceal Neoplasms Appendiceal Mucinous Neoplasm Appendiceal Adenocarcinoma Appendiceal Carcinoid Tumor Appendiceal Neoplasm Malignant Secondary Appendix Adenocarcinoma Appendix Mucinous Neoplasm Appendix Tumor Appendix Cancer Metastatic Appendix NET Low-Grade Appendix Mucinous Neoplasm High Grade Appendix Mucinous Neoplasm High Grade Appendix Mucinous Adenocarcinoma	Genetic: Genetic profiling Other: Retrospective tissue procurement

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 Design

Study Type:

Observational

Anticipated Enrollment :

700 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

Genetics of Appendix Cancer: The GAP Study

Actual Study Start Date :

Nov 11, 2022

Anticipated Primary Completion Date :

Nov 1, 2032

Anticipated Study Completion Date :

Nov 1, 2034

Arms and Interventions

Arm	Intervention/Treatment
GAP Social Individuals ages 18+ years with an appendix cancer diagnosis in the United States.	Genetic: Genetic profiling Whole exome sequencing Other: Retrospective tissue procurement Collection of archived fixed-formalin, paraffin-embedded (FFPE) primary appendix tumor tissues that were previously removed
GAP Vanderbilt Individuals ages 18+ years with an appendix cancer diagnosis seen at Vanderbilt.	Genetic: Genetic profiling Whole exome sequencing Other: Retrospective tissue procurement Collection of archived fixed-formalin, paraffin-embedded (FFPE) primary appendix tumor tissues that were previously removed
GAP Parent Biological parents of active GAP (Social and Vanderbilt) Study participants.	Genetic: Genetic profiling Whole exome sequencing

Arm

Intervention/Treatment

GAP Social

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

Genetic: Genetic profiling

Whole exome sequencing

Other: Retrospective tissue procurement

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

GAP Vanderbilt

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

Genetic: Genetic profiling

Whole exome sequencing

Other: Retrospective tissue procurement

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

GAP Parent

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

Genetic: Genetic profiling

Whole exome sequencing

Outcome Measures

Primary Outcome Measures

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

Association of germline genetic variants with clinical, pathologic and molecular features of appendix tumors [Within 6 years of study enrollment]

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

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