Appendix CancerGAPNCT05734430
Genetics of Appendix Cancer Study
An observational study of Appendix Cancer and Appendiceal Cancer, run by Andreana Holowatyj, PhD, MSCI at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Appendix Cancer, Appendiceal Cancer, Appendiceal Neoplasms
- What is being tested?
- Genetic profiling and Retrospective tissue procurement
- How many people
- 700 participants
- Where
- 1 siteUnited States
- Study dates
- 11 Nov 2022to Nov 2034
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Individuals age 18+ years diagnosed with appendix cancer, and biological parents of study participants.
Who may be able to join
- 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
Show all 11Show fewer
- 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
Who cannot join
- Women pregnant at the time of consent
- Prisoners
- Unable to provide informed consent
- Unable to read, write, or complete questionnaires in English
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Vanderbilt-Ingram Cancer Center
Nashville, Tennessee, 37232
GAP Study Coordinator (Rebecca B.), 615-936-8544, gapcancerstudy@vumc.org
Andreana N Holowatyj, PhD, MSCI
About this study
Official title: Genetics of Appendix Cancer: The GAP 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.
Read the 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.
- Conditions
- Appendix Cancer, Appendiceal Cancer, Appendiceal Neoplasms, Appendiceal Mucinous Neoplasm, Appendiceal Adenocarcinoma, Appendiceal Carcinoid Tumor
- Being tested
- Genetic profiling, Retrospective tissue procurement
- Keywords
- Genetics
- Medical subject headings
- Appendiceal Neoplasms, Adenocarcinoma, Mucinous
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic profilingGenetic
Whole exome sequencing
Retrospective tissue procurementOther
Collection of archived fixed-formalin, paraffin-embedded (FFPE) primary appendix tumor tissues that were previously removed
| Study group | Role | What they receive |
|---|---|---|
| GAP Social | Individuals ages 18+ years with an appendix cancer diagnosis in the United States. Receives: Genetic: Genetic profiling; Other: Retrospective tissue procurement | |
| GAP Vanderbilt | Individuals ages 18+ years with an appendix cancer diagnosis seen at Vanderbilt. Receives: Genetic: Genetic profiling; Other: Retrospective tissue procurement | |
| GAP Parent | Biological parents of active GAP (Social and Vanderbilt) Study participants. Receives: Genetic: Genetic profiling |
What is being measured
The primary outcome is the main question the study is designed to answer.
Prevalence and spectrum of pathogenic and likely pathogenic germline variants in appendix cancer patients and their biological parents
Measured: Within 6 years of study enrollment
Secondary outcomes (1)
Association of germline genetic variants with clinical, pathologic and molecular features of appendix tumors
Measured: Within 6 years of study enrollment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Feb 2023
- Study start11 Nov 2022
- Primary completionNov 2032 (estimated)
- Study completionNov 2034 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Appendix CancerStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 700 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Andreana Holowatyj, PhD, MSCI
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Andreana Holowatyj, PhD, MSCI, Vanderbilt-Ingram Cancer Center
- Investigators
- Andreana N Holowatyj, PhD, MSCI, Principal investigator, Vanderbilt-Ingram Cancer Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05734430
- Sponsor's protocol ID
- VICC GI 2280
- Acronym
- GAP
- Status last verified
- Apr 2025
- First submitted
- 8 Feb 2023
- Last updated
- 18 Apr 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
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.
PubMed 36368039Holowatyj 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.
PubMed 39979656Janczewski 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.
PubMed 37358310
Study at a glance
From the registry record, last updated by the sponsor on 18 Apr 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetics of Appendix Cancer: The GAP Study
- ClinicalTrials.gov ID
- NCT05734430
- Acronym / sponsor ID
- GAP / VICC GI 2280
- Conditions
- Appendix Cancer, Appendiceal Cancer, Appendiceal Neoplasms, Appendiceal Mucinous Neoplasm, Appendiceal Adenocarcinoma, Appendiceal Carcinoid Tumor
- Keywords
- Genetics
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 700 participants (estimated)
- Lead sponsor
- Andreana Holowatyj, PhD, MSCIUniversity, hospital or other
- Study start
- 11 Nov 2022 (actual)
- Primary completion
- Nov 2032 (estimated)
- Study completion
- Nov 2034 (estimated)
- First posted
- 21 Feb 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| GAP Social | – | Genetic: Genetic profiling, Other: Retrospective tissue procurementIndividuals ages 18+ years with an appendix cancer diagnosis in the United States. |
| GAP Vanderbilt | – | Genetic: Genetic profiling, Other: Retrospective tissue procurementIndividuals ages 18+ years with an appendix cancer diagnosis seen at Vanderbilt. |
| GAP Parent | – | Genetic: Genetic profilingBiological parents of active GAP (Social and Vanderbilt) Study participants. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Individuals age 18+ years diagnosed with appendix cancer, and biological parents of study participants.
Key inclusion criteria (11 listed)
- 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
Key exclusion criteria (4 listed)
- Women pregnant at the time of consent
- Prisoners
- Unable to provide informed consent
- Unable to read, write, or complete questionnaires in English
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Genetic profilingWhole exome sequencing | Genetic | GAP Parent, GAP Social, GAP Vanderbilt |
| Retrospective tissue procurementCollection of archived fixed-formalin, paraffin-embedded (FFPE) primary appendix tumor tissues that were previously removed | Other | GAP Social, GAP Vanderbilt |
Primary outcome
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
1 secondary outcome
Association of germline genetic variants with clinical, pathologic and molecular features of appendix tumors
Time frame: Within 6 years of study enrollment
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Apr 2025.
- Background: PubMed 36368039Holowatyj 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.
- Background: PubMed 39979656Holowatyj 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.
- Background: PubMed 37358310Janczewski 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.
- GAP Study WebsiteLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Andreana N Holowatyj, PhD, MSCI principal investigator
Vanderbilt-Ingram Cancer Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Appendix Cancer and Appendiceal Cancer, run by Andreana Holowatyj, PhD, MSCI at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 18 Apr 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact GAP Study Coordinator (Rebecca B.) (615-936-8544, gapcancerstudy@vumc.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the 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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05734430, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Apr 2025.