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

Active, not recruiting

• Conditions: Lynch Syndrome; Hereditary Colonic Polyposis Syndromes
• Interventions: Genetic: colonic biopsies; Genetic: questionnaires

• Registration Number: NCT02371135
• Lead Sponsor: Memorial Sloan Kettering Cancer Center

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2015-02
• Study First Submitted: 2015-02-19
• Study First Submitted QC: 2015-02-24
• Study First Posted: 2015-02-25
• Status Verified: 2024-02
• Last Update Submitted: 2024-02-01
• Last Update Posted: 2024-02-02
• Primary Completion: 2025-02
• Study Completion: 2025-02

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 77

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)

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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)

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
patients having lower endoscopy	questionnaires	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
patients having lower endoscopy	colonic biopsies	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

Primary Outcome Measures

Name	Time	Method
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.

Trial Locations

Locations (1)

Memorial Sloan Kettering Cancer Center; 🇺🇸 New York, New York, United States