Clinical trial NCT05734430: Genetics of Appendix Cancer Study
Official title: Genetics of Appendix Cancer: The GAP Study
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: 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
Keywords: Genetics
Lead sponsor: Vanderbilt-Ingram Cancer Center
Sponsor class: OTHER
First posted: 2023-02-21
Enrollment: 700
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Individuals age 18+ years diagnosed with appendix cancer, and biological parents of study participants.

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.

Eligibility criteria: 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

Primary outcomes:
measure: Prevalence and spectrum of pathogenic and likely pathogenic germline variants in appendix cancer patients and their biological parents
timeFrame: Within 6 years of study enrollment
Secondary outcomes:
measure: Association of germline genetic variants with clinical, pathologic and molecular features of appendix tumors
timeFrame: Within 6 years of study enrollment
Other outcomes:
Locations:
city: Nashville
country: United States
facility: Vanderbilt-Ingram Cancer Center
state: Tennessee
Study officials:
affiliation: Vanderbilt-Ingram Cancer Center
name: Andreana N Holowatyj, PhD, MSCI
role: PRINCIPAL_INVESTIGATOR
References:
citation: Holowatyj AN, Washington MK, Tavtigian SV, Eng C, Horton C. Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer. JAMA Oncol. 2022 Nov 11;9(1):95-101. doi: 10.1001/jamaoncol.2022.5425. Online ahead of print.
citation: Holowatyj AN, Overman MJ, Votanopoulos KI, Lowy AM, Wagner P, Washington MK, Eng C, Foo WC, Goldberg RM, Hosseini M, Idrees K, Johnson DB, Shergill A, Ward E, Zachos NC, Shelton D; Appendix Cancer Pseudomyxoma Peritonei (ACPMP) Research Foundation. Defining a 'cells to society' research framework for appendiceal tumours. Nat Rev Cancer. 2025 Apr;25(4):293-315. doi: 10.1038/s41568-024-00788-2. Epub 2025 Feb 20.
citation: Janczewski LM, Browner AE, Cotler JH, Nelson H, Kakar S, Carr NJ, Hanna NN, Holowatyj AN, Goldberg RM, Washington MK, Asare EA, Overman MJ; American Joint Committee on Cancer Expert Panel on Cancers for the Lower Gastrointestinal Appendix Disease Site. Survival outcomes used to validate version 9 of the American Joint Committee on Cancer staging system for appendiceal cancer. CA Cancer J Clin. 2023 Nov-Dec;73(6):590-596. doi: 10.3322/caac.21806. Epub 2023 Jun 26.