RecruitingNot Applicable

CTNNA1 Familial Expansion Study

United States100 participantsStarted 2021-03-16

Plain-language summary

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

Who can participate

Age range

18 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

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

Timeframe: Through study completion, which will average 1 year

Number of CTNNA1 genotypes associated with a cancer phenotype

Timeframe: Through study completion, which will average 1 year

Trial details

NCT IDNCT05126290

SponsorAbramson Cancer Center at Penn Medicine

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2028-01-01

Contact for this trial

Bryson W Katona, MD, PhD

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

View on ClinicalTrials.gov More Cancer Gene Mutation trials

Who can participate

Age range

18 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.