CAFÉ: CTNNA1 Familial Expansion Study

Sponsor
Abramson Cancer Center of the University of Pennsylvania (Other)
Overall Status
Recruiting
CT.gov ID
NCT05126290
Collaborator
(none)
100
Enrollment
1
Location
33.5
Anticipated Duration (Months)
3
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

The goal of the CAFÉ Study is to determine the cancer risks associated with germline CTNNA1 loss-of-function variants.

Condition or DiseaseIntervention/TreatmentPhase
  • Other: Collection of personal and family history from CAFÉ Study participants

Detailed Description

The CAFÉ Study aims to determine the degree to which loss-of-function variants in the CTNNA1 gene are associated with hereditary cancers, including gastric cancer, breast cancer, as well as other cancers that may be associated with this gene. By obtaining personal and family history information from individuals who carry a CTNNA1 loss-of-function variant and their family members, this study will aim to better define CTNNA1 associated cancer risks and determine whether there is a genotype/phenotype correlation for CTNNA1 loss-of-function variants. This information will be important for the future cancer risk management of individuals who carry a CTNNA1 loss-of-function variant.

Study Design

Study Type:
Observational [Patient Registry]
Anticipated Enrollment :
100 participants
Observational Model:
Cohort
Time Perspective:
Prospective
Official Title:
CTNNA1 Familial Expansion (CAFÉ) Study
Actual Study Start Date :
Mar 16, 2021
Anticipated Primary Completion Date :
Jan 1, 2024
Anticipated Study Completion Date :
Jan 1, 2024

Outcome Measures

Primary Outcome Measures

  1. Cancer risk estimates for carriers of CTNNA1 loss-of-function variants [Through study completion, which will average 1 year]

    After collecting personal and family cancer history from enrolled participants, family pedigrees will be utilized to calculate cancer risk estimates for for CTNNA1 loss-of-function variant carriers including gastric cancer risk, breast cancer risk, as well as risk of other cancers currently not known to be associated with CTNNA1 variants gene.

  2. Determine if there is a CTNNA1 genotype-phenotype that confers cancer risk [Through study completion, which will average 1 year]

    Using collected family pedigrees from enrolled participants, we will correlate estimated cancer risk for CTNNA1 loss-of-function variant carriers with their CTNNA1 genotype, to determine if there is a significant genotype-phenotype correlation observed.

Eligibility Criteria

Criteria

Ages Eligible for Study:
18 Years and Older
Sexes Eligible for Study:
All
Accepts Healthy Volunteers:
No
Inclusion Criteria:
  • 18 years of age and older

  • Participants must be carrier, or a first degree relative of a carrier, of a CTNNA1 loss-of-function variant defined as: a variant predicted to lead to protein truncation (nonsense and frameshift variants), a large deletion of one or more exons, or a consensus splice site variant predicted to disrupt splicing in CTNNA1. CTNNA1 loss-of-function variants do not need to be classified as pathogenic or likely pathogenic to be included.

  • Participants must be able to understand and read English

  • Participants must be able to provide informed verbal or written consent

Exclusion Criteria:
  • Less than 18 years of age

  • Individuals who do not carry a CTNNA1 loss-of-function variant and are not a first degree relative of a CTNNA1 loss-of-function variant carrier.

  • Individuals who cannot speak and read English

  • Major psychiatric illness or cognitive impairment that in the judgement of the study investigators or study staff would preclude study participation

  • Unable to comply with the study procedures as determined by the study investigators or study staff

Contacts and Locations

Locations

SiteCityStateCountryPostal Code
1Abramson Cancer Center of the University of PennsylvaniaPhiladelphiaPennsylvaniaUnited States19104

Sponsors and Collaborators

  • Abramson Cancer Center of the University of Pennsylvania

Investigators

  • Principal Investigator: Bryson W Katona, MD, PhD, University of Pennsylvania

Study Documents (Full-Text)

None provided.

More Information

Additional Information:

Publications

Responsible Party:
Bryson Katona, Assistant Professor of Medicine, Director - Gastrointestinal Cancer Genetics Program, Abramson Cancer Center of the University of Pennsylvania
ClinicalTrials.gov Identifier:
NCT05126290
Other Study ID Numbers:
  • UPCC 21220
  • 844070
First Posted:
Nov 19, 2021
Last Update Posted:
Nov 19, 2021
Last Verified:
Nov 1, 2021
Individual Participant Data (IPD) Sharing Statement:
No
Plan to Share IPD:
No
Studies a U.S. FDA-regulated Drug Product:
No
Studies a U.S. FDA-regulated Device Product:
No
Keywords provided by Bryson Katona, Assistant Professor of Medicine, Director - Gastrointestinal Cancer Genetics Program, Abramson Cancer Center of the University of Pennsylvania
Additional relevant MeSH terms:

Study Results

No Results Posted as of Nov 19, 2021