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NCT Number: NCT06582914

Lynch Syndrome Integrative Epidemiology and Genetics

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

Recruiting

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Key information

Conditions

Lynch Syndrome Colonic Diseases Colorectal Neoplasms Colorectal Neoplasms, Hereditary Nonpolyposis Congenital, Hereditary, and Neonatal Diseases and Abnormalities DNA Repair-Deficiency Disorders Digestive System Diseases Digestive System Neoplasms Gastrointestinal Diseases Gastrointestinal Neoplasms Genetic Diseases, Inborn Intestinal Diseases Intestinal Neoplasms Metabolic Diseases Neoplasms Neoplasms by Site Neoplastic Syndromes, Hereditary Nutritional and Metabolic Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

University of Colorado, Aurora, Colorado, United States

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. Colorectal cancer incidence

    Time frame: 40 years

    cases of adenocarcinoma of the colon or rectum diagnosed over the observation period

Secondary outcomes

  1. non-colorectal cancer incidence

    Time frame: 40 years

    new cases of any cancer diagnosed over observation period

  2. precancerous colorectal polyps

    Time frame: 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

Study contacts

Contact information is provided by the study sponsor or research team.

Sonia Kupfer, MD

CONTACT

Swati G Patel, MD, MS

CONTACT

[email protected]

3032170731

Sponsors and collaborators

Lead sponsor

University of Colorado, Denver

Other

Collaborators

  • City of Hope National Medical Center
  • Dana-Farber Cancer Institute
  • Johns Hopkins University
  • Kaiser Permanente
  • Loma Linda University
  • MedStar Health
  • Ohio State University
  • The Cleveland Clinic
  • University of Alabama at Birmingham
  • University of Arizona
  • University of California, San Diego
  • University of Chicago
  • University of Kansas
  • University of Manitoba
  • University of Miami
  • University of Michigan
  • University of North Carolina
  • University of Pennsylvania
  • University of Pittsburgh
  • University of Rochester
  • University of Wisconsin, Madison
  • Virginia Mason Hospital/Medical Center

Registry information

Official study title

Lynch Syndrome Integrative Epidemiology and Genetics (LINEAGE)

Acronym: LINEAGE

Important dates

Study start
2024
Primary completion
2054
Study completion
2054
First posted
Sep 3, 2024
Registry last updated
Jan 15, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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