CTNNA1 Familial Expansion Study (CAFÉ)
Surveys, Registries, Interviews
Observational study enrolling adults who carry a CTNNA1 loss-of-function variant or are first-degree relatives of a carrier
Clinicaltrials.gov identifier:NCT05126290
Study Contact Information:
Study Contact: Bryson Katona, MD, PhD
Phone: 215-349-8222
Email: [email protected]
About the Study
The CTNNA1 Familial Expansion (CAFÉ) Study is an observational study that aims to better understand cancer risks associated with changes in the CTNNA1 gene. Researchers are studying loss-of-function variants, which are genetic changes that can prevent a gene from functioning normally.
Researchers will collect personal medical, genetic, and family health history from people who carry a CTNNA1 loss-of-function variant and their first-degree relatives. The study aims to determine whether certain CTNNA1 variants are associated with specific types of cancer, including stomach (gastric) cancer and breast cancer.
The findings may help researchers better understand cancer risks associated with CTNNA1 variants and inform future approaches to managing cancer risk in affected families.
This Study is Open To:
- Adults aged 18 or older who carry a CTNNA1 loss-of-function variant.
- Adults aged 18 or older who are a (parent, sibling, or child) of someone who carries a CTNNA1 loss-of-function variant.
This Study is NOT Open To:
- People younger than 18 years old.
- People who do not carry a CTNNA1 loss-of-function variant and are not a of a carrier.
- People who cannot speak and read English.
What the Study Involves
Participants will provide information about their personal medical history, genetic test results, and family health history through an online data entry system. The research team may contact participants in the future to obtain additional information about their health or their family's health.
Participation is expected to average one year.
Study Contact Information:
Study Contact: Bryson Katona, MD, PhD
Phone: 215-349-8222
Email: [email protected]
Locations:
Pennsylvania
City: Philadelphia RECRUITING
Facility: Abramson Cancer Center of the University of Pennsylvania
Contact Info:
[email protected]
215-349-8222
Bryson Katona, MD, PhD
Surveys, Registries, Interviews
Observational study enrolling adults who carry a CTNNA1 loss-of-function variant or are first-degree relatives of a carrier
Clinicaltrials.gov identifier:NCT05126290
Study Contact Information:
Study Contact: Bryson Katona, MD, PhD
Phone: 215-349-8222
Email: [email protected]