CTNNA1 Familial Expansion Study (NCT05126290) | Clinical Trial Compass
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 range18 Years
SexALL
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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
What they're measuring
1
Rate of cancer amongst carriers of CTNNA1 loss-of-function variants
Timeframe: Through study completion, which will average 1 year
2
Number of CTNNA1 genotypes associated with a cancer phenotype
Timeframe: Through study completion, which will average 1 year