Lynch Syndrome Integrative Epidemiology and Genetics

Lynch Syndrome Integrative Epidemiology and Genetics (LINEAGE)

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT06582914

Acronym

LINEAGE

Enrollment

5000

Registered

2024-09-03

Start date

2024-10-01

Completion date

2054-12-31

Last updated

2025-01-15

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Lynch Syndrome

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
Colorectal cancer incidence	40 years	cases of adenocarcinoma of the colon or rectum diagnosed over the observation period

Secondary

Measure	Time frame	Description
non-colorectal cancer incidence	40 years	new cases of any cancer diagnosed over observation period
precancerous colorectal polyps	40 years	new diagnoses of any of the following polyps in the colon or rectum * tubular adenoma * villous adenoma * tubulovillous adenoma * sessile serrated lesion * traditional serrated adenoma

Countries

United States

Contacts

Primary ContactSwati G Patel, MD, MS

swati.patel@cuanschutz.edu3032170731

Backup ContactSonia Kupfer, MD

Outcome results