Metagenomic Evaluation of the Gut Microbiome in Patients With Lynch Syndrome and Other Hereditary Colonic Polyposis Syndromes

Sponsor

Memorial Sloan Kettering Cancer Center (Other)

Overall Status

Recruiting

CT.gov ID

NCT02371135

Collaborator

Harvard University (Other), Broad Institute (Other)

225

Enrollment

Location

108

Anticipated Duration (Months)

2.1

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

The purpose of this study is to understand the role bacteria that normally live in the colon may play in colorectal cancer risk, in addition to the hereditary risk to colorectal cancer. The investigators will collect stool specimens as well as additional colon biopsy specimens during the patient's scheduled colonoscopy procedure. The investigators will also collect a questionnaire about diet and lifestyle. The samples will be used to study the impact of diet on naturally-occurring oral and gut bacteria and their influences on human health including risk of cancer.

Condition or Disease	Intervention/Treatment	Phase
Lynch Syndrome Hereditary Colonic Polyposis Syndromes	Genetic: colonic biopsies Genetic: questionnaires

Study Design

Study Type:

Observational

Anticipated Enrollment :

225 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

Metagenomic Evaluation of the Gut Microbiome in Patients With Lynch Syndrome and Other Hereditary Colonic Polyposis Syndromes

Actual Study Start Date :

Feb 1, 2015

Anticipated Primary Completion Date :

Feb 1, 2024

Anticipated Study Completion Date :

Feb 1, 2024

Arms and Interventions

Arm	Intervention/Treatment
patients having lower endoscopy At least 2 weeks prior to scheduled lower endoscopy, consented study participants will be mailed a Brief Diet and Lifestyle Questionnaire, a stool collection kit with detailed instructions and a Stool Collection Data Sheet. No more than one week prior to the lower endoscopy but prior to initiation of bowel preparation, the consented participants will provide a stool specimen and fill out the two questionnaires. The routine lower endoscopy will be performed according to routine clinical procedures. Clinical biopsies of suspicious areas and/or lesions will be taken as per standard clinical care with all such tissue samples sent to pathology for routine clinical analysis. For the sole purposes of research, at the routine lower endoscopy, up to 8 additional colonic biopsies will be taken from normal appearing colon mucosa	Genetic: colonic biopsies Genetic: questionnaires

Arm

Intervention/Treatment

patients having lower endoscopy

At least 2 weeks prior to scheduled lower endoscopy, consented study participants will be mailed a Brief Diet and Lifestyle Questionnaire, a stool collection kit with detailed instructions and a Stool Collection Data Sheet. No more than one week prior to the lower endoscopy but prior to initiation of bowel preparation, the consented participants will provide a stool specimen and fill out the two questionnaires. The routine lower endoscopy will be performed according to routine clinical procedures. Clinical biopsies of suspicious areas and/or lesions will be taken as per standard clinical care with all such tissue samples sent to pathology for routine clinical analysis. For the sole purposes of research, at the routine lower endoscopy, up to 8 additional colonic biopsies will be taken from normal appearing colon mucosa

Genetic: colonic biopsies

Genetic: questionnaires

Outcome Measures

Primary Outcome Measures

association of the gut microbiome and dietary factors (To validate said associations, individual questions from the Brief Diet and Lifestyle Questionnaire will be primarily used in the overall analyses) [2 years]
with risk of adenoma or cancer in Lynch syndrome and other hereditary colonic polyposis syndrome patients. To validate said associations, individual questions from the Brief Diet and Lifestyle Questionnaire will be primarily used in the overall analyses.

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Inclusion Criteria:

Male or Female age 18 or older
Hereditary colorectal cancer syndrome with one of the following:
Lynch syndrome, as defined by the presence of a deleterious germline mutation in the MLH1, MSH2, MSH6, PMS2 or EPCAM genes
Other hereditary colonic polyposis syndromes, as defined by the presence of a deleterious germline mutation in any one of the following polyposis genes (APC, biallelic MYH, STK11, SMAD4, BMPR1A, or other CRC-risk associated genes at discretion of PI)

Exclusion Criteria:

Unable to provide informed consent for testing
Unable to complete English language questionnaire
Receiving active chemotherapy
Having completed active chemotherapy less then 12 months prior to day of scheduled lower endoscopy
No infectious or drug induced colitis less then 12 months prior to day of scheduled lower endoscopy
No history of inflammatory colitis (Crohn's disease or ulcerative colitis)