Clinical trial NCT06582914: Lynch Syndrome Integrative Epidemiology and Genetics
Official title: Lynch Syndrome Integrative Epidemiology and Genetics (LINEAGE)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Lynch Syndrome
Lead sponsor: University of Colorado, Denver
Sponsor class: OTHER
Collaborators: name: University of Chicago
name: University of Kansas
name: University of Pennsylvania
name: Johns Hopkins University
name: City of Hope National Medical Center
name: Loma Linda University
name: MedStar Health
name: University of Arizona
name: University of Manitoba
name: University of Michigan
name: University of North Carolina
name: University of Pittsburgh
name: University of Rochester
name: Dana-Farber Cancer Institute
name: University of Wisconsin, Madison
name: The Cleveland Clinic
name: University of California, San Diego
name: Kaiser Permanente
name: Ohio State University
name: Virginia Mason Hospital/Medical Center
name: University of Alabama at Birmingham
name: University of Miami
First posted: 2024-09-03
Enrollment: 5000
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Individuals with Lynch Syndrome, defined as having a pathogenic or likely pathogenic variant in a mismatch repair gene (MLH1, MSH2, MSH6, PMS2, EPCAM) on germline genetic testing.

Brief summary: The vision of the "Lynch syndrome INtegrative Epidemiology And GEnetics" (LINEAGE) Consortium is to collaboratively improve the lives and longevity of individuals and families with Lynch syndrome.

The mission of the LINEAGE Consortium is to collaboratively improve Lynch syndrome care through high-quality research. This consortium will provide intellectual and infrastructure support to facilitate development of research questions, collection of standardized data and biospecimens, support of grant applications, and generation of collaborative manuscripts.

Our aims are to:

I. Establish a prospective cohort of individuals with Lynch syndrome II. Collect standardized longitudinal clinical and biosample data to elucidate Lynch Syndrome epidemiology and gene-host interactions III. Promote intervention trials to improve cancer prevention and early detection in Lynch Syndrome

Detailed description: The main objective of this consortium is to build a shared resource to drive research in critical areas necessary to understand LS-related neoplasia risk and improve early detection and prevention of LS-associated cancers. This consortium will provide intellectual and infrastructure support to facilitate development of research questions, collection of standardized clinical data and biospecimens, support grant applications, and generate collaborative manuscripts.

Data and samples collected for LINEAGE will allow the consortium to address a variety of topic areas including but not limited to:

I. Risk of prevalent and incident colorectal neoplasia among PV/LPV carriers. II. Estimate risk of prevalent and incident extra-colonic neoplasm among PV/LPV carriers.

III. Characterization of post-colonoscopy colorectal cancer among PV/LPV carriers.

IV. Risk factors for prevalent and incident neoplasia.

The LINEAGE Consortium is an observational prospective cohort study, with baseline and annual electronic health record (EHR) abstraction, and electronic participant and provider surveys. The consortium may also collect single or serial biosamples from identified and enrolled LS patients at participating centers.

Eligibility criteria: Inclusion Criteria:

* • Adults age over 18 years

  * Eligible patients must have at least one variant of uncertain significance (VUS), pathogenic or likely pathogenic variant (PV/LPV) in MLH1, MSH2, MSH6, PMS2, or EPCAM, which will be confirmed by genetic testing results (obtained as part of routine care) and a review of the variant in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/).
  * Individuals who are an obligate carrier of a LS PV/LPV that is confirmed in the family.

Exclusion Criteria:

* Age under 18

Primary outcomes:
measure: Colorectal cancer incidence
timeFrame: 40 years
Secondary outcomes:
measure: non-colorectal cancer incidence
timeFrame: 40 years
measure: precancerous colorectal polyps
timeFrame: 40 years
Other outcomes:
Locations:
city: Aurora
country: United States
facility: University of Colorado
state: Colorado
city: Chicago
country: United States
facility: University of Chicago
state: Illinois
Study officials:
References:
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