NCT05126290

Brief Summary

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

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
100

participants targeted

Target at P50-P75 for all trials

Timeline
20mo left

Started Mar 2021

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress76%
Mar 2021Jan 2028

Study Start

First participant enrolled

March 16, 2021

Completed
8 months until next milestone

First Submitted

Initial submission to the registry

November 2, 2021

Completed
17 days until next milestone

First Posted

Study publicly available on registry

November 19, 2021

Completed
6.1 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2028

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2028

Last Updated

February 5, 2026

Status Verified

February 1, 2026

Enrollment Period

6.8 years

First QC Date

November 2, 2021

Last Update Submit

February 3, 2026

Conditions

Cancer Gene MutationGastric CancerBreast Cancer

Keywords

CTNNA1Hereditary diffuse gastric cancerGastric cancerBreast cancer

Outcome Measures

Primary Outcomes (2)

  • Rate of cancer amongst carriers of CTNNA1 loss-of-function variants

    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.

    Through study completion, which will average 1 year

  • Number of CTNNA1 genotypes associated with a cancer phenotype

    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.

    Through study completion, which will average 1 year

Interventions

Collection of personal and family history from CAFÉ Study participantsOTHER

Personal medical and genetic history, as well as relevant information about family history, will be collected from participants in the CAFÉ Study through an online data entry system

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

The CAFÉ Study will recruit individuals who carry a germline CTNNA1 loss-of-function variant as well as first degree relatives of germline CTNNA1 loss-of-function variant carriers.

You may qualify if:

  • 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

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Abramson Cancer Center of the University of Pennsylvania

Philadelphia, Pennsylvania, 19104, United States

RECRUITING

Related Publications (1)

  • Clark DF, Michalski ST, Tondon R, Nehoray B, Ebrahimzadeh J, Hughes SK, Soper ER, Domchek SM, Rustgi AK, Pineda-Alvarez D, Anderson MJ, Katona BW. Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer. Genet Med. 2020 May;22(5):840-846. doi: 10.1038/s41436-020-0753-1. Epub 2020 Feb 13.

    PMID: 32051609BACKGROUND

Related Links

MeSH Terms

Conditions

Stomach NeoplasmsBreast Neoplasms

Condition Hierarchy (Ancestors)

Gastrointestinal NeoplasmsDigestive System NeoplasmsNeoplasms by SiteNeoplasmsDigestive System DiseasesGastrointestinal DiseasesStomach DiseasesBreast DiseasesSkin DiseasesSkin and Connective Tissue Diseases

Study Officials

  • Bryson W Katona, MD, PhD

    University of Pennsylvania

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Bryson W Katona, MD, PhD

CONTACT

215-349-8222cafestudy@pennmedicine.upenn.edu

Dana Farengo Clark, MS, LCGC

CONTACT

cafestudy@pennmedicine.upenn.edu

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Target Duration
1 Year
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Assistant Professor of Medicine, Director - Gastrointestinal Cancer Genetics Program

Study Record Dates

First Submitted

November 2, 2021

First Posted

November 19, 2021

Study Start

March 16, 2021

Primary Completion (Estimated)

January 1, 2028

Study Completion (Estimated)

January 1, 2028

Last Updated

February 5, 2026

Record last verified: 2026-02

Data Sharing

IPD Sharing
Will not share

Locations

US(1)