Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes

Completed

• Conditions: Familial Adenomatous Polyposis; Colorectal Cancer; Lynch Syndrome; Hnpcc; Map Syndrome
• Interventions: Other: Epi proColon Testing

• Registration Number: NCT02198092
• Lead Sponsor: University of Pennsylvania

Brief Summary

This is an observational, case-control study evaluating the quantitative level of Septin9 in plasma pre- and post-colectomy in hereditary colorectal cancer (CRC) syndrome patients (Familial Adenomatous Polyposis (FAP), Lynch syndrome (also known as HNPCC), and Multiple Adenomatous Polyposis (MAP, also known as MYK/MYH) cases) and genetically related FAP-family members as controls and references.

Detailed Description

Not available

Study Timeline

• Study Start: 2014-07
• Study First Submitted: 2014-07-15
• Study First Submitted QC: 2014-07-22
• Study First Posted: 2014-07-23
• Status Verified: 2019-08
• Primary Completion: 2019-08
• Study Completion: 2019-08
• Last Update Submitted: 2019-08-27
• Last Update Posted: 2019-08-28

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 24

Inclusion Criteria

• Informed consent provided

• Age > or = to 18 years of age

• Patient group FAP

  • Clinical diagnosis of familial adenomatous polyposis

• Patient group Lynch syndrome Clinical diagnosis of Lynch syndrome

• Patient group MAP

  • Clinical diagnosis of MYH-associated polyposis and presence of more than 20 colon polyps

• Control group (FAP)

  • Genetically related family member of patient

• Patients: Able and willing to attend routine follow-up as advised

• Controls, i.e. relatives of patients: Willingness to give blood at each routine follow-up as advised for the diseased relative

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Exclusion Criteria

• Known infection with Human Immunodeficiency Virus (HIV), Hepatitis B Virus (HBV), or Hepatitis C Virus (HCV)
• Current diagnosis of colorectal cancer
• Pregnancy

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Patient Group Lynch Syndrome	Epi proColon Testing	Clinical diagnosis of Lynch Syndrome, also known as HNPCC. The patients of the disease and control groups participating in the study are followed up clinically and with blood draws at least every 6 months for the duration of 2 years. These follow-ups might be more frequent, if warranted by the clinical course of the individual disease in the participating patients. If colectomy is performed in a patient of any disease group within the study participation period, additional blood draws will occur prior to any surgical bowel preparation and within a 28-day window after surgery.
Patient Group MAP / MYH	Epi proColon Testing	Clinical diagnosis of MYH-associated polyposis and presence of more than 20 colon polyps. The patients of the disease and control groups participating in the study are followed up clinically and with blood draws at least every 6 months for the duration of 2 years. The follow-ups might be more frequent, if warranted by the clinical course of the individual disease in the participating patients. If colectomy is performed in a patient of any disease group within the study participation period, additional blood draws will occur prior to any surgical bowel preparation and within a 28-day window after surgery.
Control Group (FAP Genetically-Related)	Epi proColon Testing	Genetically related family member of enrolled FAP patient. Controls, i.e. relatives of patients: Willingness to give blood at each routine follow-up as advised for the diseased relative. The patients of the control group participating in the study are followed up clinically and with blood draws at least every 6 months for the duration of 2 years. These follow-ups might be more frequent, if warranted by the clinical course of the individual disease in the participating FAP patients. If colectomy is performed in a FAP patient of any disease group within the study participation period, additional blood draws will occur prior to any surgical bowel preparation and within a 28-day window after surgery. Blood draws in FAP patients should always be accompanied by blood draws in their family member controls.
Patient Group FAP	Epi proColon Testing	Clinical diagnosis of familial adenomatous polyposis (FAP). The patients of the disease and control groups participating in the study are followed up clinically and with blood draws at least every 6 months for the duration of 2 years. These follow-ups might be more frequent, if warranted by the clinical course of the individual disease in the participating patients. Blood draws in FAP patients should always be accompanied by blood draws in their family member controls. If colectomy is performed in a patient of any disease group within the study participation period, additional blood draws will occur prior to any surgical bowel preparation and within a 28-day window after surgery.

Primary Outcome Measures

Name	Time	Method
Septin9 Plasma Levels	Up to 2 years	The primary objective of the study is the observational analysis of quantitative Septin9 plasma levels over time in hereditary CRC syndrome patients pre- and post-colectomy.

Secondary Outcome Measures

Name	Time	Method
Septin9 Plasma Levels Versus Polyps	Up to 2 years	• Correlation of quantitative Septin9 plasma levels with the approx. number of polyps
Pre- and Post-Colectomy Colonic Epithelial Cell Numbers	Up to 2 years	• Correlation of circulating colonic epithelial cell number pre- and post-colectomy
Septin9 Levels Versus Circulating Colonic Epithelial Cell Numbers	Up to 2 years	• Correlation of circulating colonic epithelial cell number with Septin9 levels

Trial Locations

Locations (1)

University of Pennsylvania; 🇺🇸 Philadelphia, Pennsylvania, United States