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CTNNA1 Familial Expansion Study (CAFÉ)

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ClinicalTrials.gov Identifier: NCT05126290
Recruitment Status : Recruiting
First Posted : November 19, 2021
Last Update Posted : January 4, 2023
Sponsor:
Information provided by (Responsible Party):
Bryson Katona, Abramson Cancer Center at Penn Medicine

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

Condition or disease Intervention/treatment
Cancer Gene Mutation Gastric Cancer Breast Cancer 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
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Study Type : Observational [Patient Registry]
Estimated Enrollment : 100 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 1 Year
Official Title: CTNNA1 Familial Expansion (CAFÉ) Study
Actual Study Start Date : March 16, 2021
Estimated Primary Completion Date : January 1, 2024
Estimated Study Completion Date : January 1, 2024

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Family Issues

Groups and Cohorts
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Intervention Details:
  • Other: Collection of personal and family history from CAFÉ Study participants
    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

Outcome Measures
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Primary Outcome Measures :
  1. Rate of cancer amongst carriers of CTNNA1 loss-of-function variants [ Time Frame: 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. Number of CTNNA1 genotypes associated with a cancer phenotype [ Time Frame: 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
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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-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.
Criteria

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
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05126290


Contacts
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Contact: Bryson W Katona, MD, PhD 215-349-8222 cafestudy@pennmedicine.upenn.edu
Contact: Dana Farengo Clark, MS, LCGC cafestudy@pennmedicine.upenn.edu

Locations
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United States, Pennsylvania
Abramson Cancer Center of the University of Pennsylvania Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Bryson Katona, MD, PhD    215-349-8222    cafestudy@pennmedicine.upenn.edu   
Principal Investigator: Bryson Katona, MD, PhD         
Sponsors and Collaborators
Abramson Cancer Center at Penn Medicine
Investigators
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Principal Investigator: Bryson W Katona, MD, PhD University of Pennsylvania
More Information
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Additional Information:

Publications:

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Responsible Party: Bryson Katona, Assistant Professor of Medicine, Director - Gastrointestinal Cancer Genetics Program, Abramson Cancer Center at Penn Medicine
ClinicalTrials.gov Identifier: NCT05126290    
Other Study ID Numbers: UPCC 21220
844070 ( Other Identifier: UPENN IRB )
First Posted: November 19, 2021    Key Record Dates
Last Update Posted: January 4, 2023
Last Verified: January 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Bryson Katona, Abramson Cancer Center at Penn Medicine:
CTNNA1
Hereditary diffuse gastric cancer
Gastric cancer
Breast cancer
Additional relevant MeSH terms:
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Stomach Neoplasms
Neoplasms by Site
Neoplasms
Gastrointestinal Neoplasms
 Digestive System Neoplasms
Digestive System Diseases
Gastrointestinal Diseases
Stomach Diseases