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CTNNA1 Familial Expansion Study (CAFÉ)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT05126290
Recruitment Status : Recruiting
First Posted : November 19, 2021
Last Update Posted : February 21, 2024
Sponsor:
Information provided by (Responsible Party):
Bryson Katona, Abramson Cancer Center at Penn Medicine

Tracking Information
First Submitted Date November 2, 2021
First Posted Date November 19, 2021
Last Update Posted Date February 21, 2024
Actual Study Start Date March 16, 2021
Estimated Primary Completion Date January 1, 2026   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: January 2, 2023)
  • 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.
  • 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.
Original Primary Outcome Measures
 (submitted: November 10, 2021)
  • Cancer risk estimates for 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.
  • Determine if there is a CTNNA1 genotype-phenotype that confers cancer risk [ 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.
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title CTNNA1 Familial Expansion Study
Official Title CTNNA1 Familial Expansion (CAFÉ) Study
Brief Summary The goal of the CAFÉ Study is to determine the cancer risks associated with germline CTNNA1 loss-of-function variants.
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 Type Observational [Patient Registry]
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration 1 Year
Biospecimen Not Provided
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.
Condition
  • Cancer Gene Mutation
  • Gastric Cancer
  • Breast Cancer
Intervention 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
Study Groups/Cohorts Not Provided
Publications * 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.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: November 10, 2021)		 100
Original Estimated Enrollment Same as current
Estimated Study Completion Date January 1, 2026
Estimated Primary Completion Date January 1, 2026   (Final data collection date for primary outcome measure)
Eligibility 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
Sex/Gender
Sexes Eligible for Study: All
Ages 18 Years and older   (Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts
Contact: Bryson W Katona, MD, PhD 215-349-8222 cafestudy@pennmedicine.upenn.edu
Contact: Dana Farengo Clark, MS, LCGC cafestudy@pennmedicine.upenn.edu
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT05126290
Other Study ID Numbers UPCC 21220
844070 ( Other Identifier: UPENN IRB )
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: No
Current Responsible Party Bryson Katona, Abramson Cancer Center at Penn Medicine
Original Responsible Party Same as current
Current Study Sponsor Abramson Cancer Center at Penn Medicine
Original Study Sponsor Same as current
Collaborators Not Provided
Investigators
Principal Investigator: Bryson W Katona, MD, PhD University of Pennsylvania
PRS Account Abramson Cancer Center at Penn Medicine
Verification Date February 2024