Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes

ID: NCT02198092
Status: Recruiting
Phase: N/A
Start Date: July 01, 2014
First Submitted: July 15, 2014
Last Updated: February 06, 2018
Results: N/A
Sponsors & Collaborators: University of Pennsylvania, Epigenomics, Inc
Location: Taiwan, United States
Conditions: Familial Adenomatous Polyposis, Map Syndrome, Lynch Syndrome, Hnpcc, Colorectal Cancer
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Study Description

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

Condition or disease Intervention/treatment Phase

Colorectal Cancer

Familial Adenomatous Polyposis

Hnpcc

Lynch Syndrome

Map Syndrome

Other: Epi proColon Testing
Other Names
N/A

Tracking Information

First Submitted DateJuly 15, 2014
Last Update Posted DateFebruary 06, 2018
Start DateJuly 01, 2014
Anticipated Completion DateAugust 01, 2020
Primary Completion DateAugust 01, 2020
Results First Submitted DateN/A
Received Results Disposit DateN/A

Current Primary Outcome Measures

  • Septin9 Plasma Levels [Time Frame: 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.

Original Primary Outcome Measures

Not Available

Current Secondary Outcome Measures

  • Septin9 Plasma Levels Versus Polyps [Time Frame: Up to 2 years]

    • Correlation of quantitative Septin9 plasma levels with the approx. number of polyps

  • Pre- and Post-Colectomy Colonic Epithelial Cell Numbers [Time Frame: Up to 2 years]

    • Correlation of circulating colonic epithelial cell number pre- and post-colectomy

  • Septin9 Levels Versus Circulating Colonic Epithelial Cell Numbers [Time Frame: Up to 2 years]

    • Correlation of circulating colonic epithelial cell number with Septin9 levels

Original Secondary Outcome Measures

Not Available

Study Design

Brief TitlePreliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes
Official TitlePreliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes
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

Study TypeObservational
Study PhaseN/A
Estimated Enrollment
46
Allocation
Not Available
Interventional Model
Not Available
Masking
Not Available
Primary Purpose
Not Available
Conditions
Colorectal Cancer
Familial Adenomatous Polyposis
Hnpcc
Lynch Syndrome
Map Syndrome
Target Follow-Up Duration N/A
Biospecimen:
Retention: Samples With DNA
Description: Blood samples will be used as per the study protocol. Consented subjects will provide at least 10 ml but not more than 20 ml (for repeating testing) of blood at each time point for Epi proColon testing. An additional volume of up to 10 ml anticoagulated blood will be drawn for circulating colonic epithelial cell analysis at each time point. Blood samples will be stored and will only be used in future research with the express written permission of study subjects. Subjects may withdraw consent from the study or for future use of blood samples at any time.
Sampling MethodNon-Probability Sample
Study PopulationAge > or = to 18 years of age Clinical diagnosis of familial adenomatous polyposis Clinical diagnosis of Lynch syndrome Clinical diagnosis of MYH-associated polyposis and presence of more than 20 colon polyps Genetically related family member of patients with clinical diagnosis of FAP for Control group
Intervention
Other: Epi proColon Testing

Plasma specimens will be collected and processed according to the Instructions for Use of the Epi proColon investigational device. For circulating colonic epithelial cell analysis, at least one ml whole blood will be required for analysis. Samples will be analyzed for circulating epithelial cells using the geometrically enhanced immunocapture device (GEDI; Gleghorn et al., 2009). Circulating epithelial cells will be captured using EpCAM antibodies and quantified by immunofluorescence microscopy as defined as cells that are DAPI+, CK+, CD45-. Captured cells will be fixed and stored at -20ËšC.

Other Names
Study Groups/Cohorts
Patient Group FAP
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.

Patient Group Lynch Syndrome
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
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)
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.

Study Arms
Control Group (FAP Genetically-Related)
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.
Other : Epi proColon Testing
Plasma specimens will be collected and processed according to the Instructions for Use of the Epi proColon investigational device. For circulating colonic epithelial cell analysis, at least one ml whole blood will be required for analysis. Samples will be analyzed for circulating epithelial cells using the geometrically enhanced immunocapture device (GEDI; Gleghorn et al., 2009). Circulating epithelial cells will be captured using EpCAM antibodies and quantified by immunofluorescence microscopy as defined as cells that are DAPI+, CK+, CD45-. Captured cells will be fixed and stored at -20ËšC.

Patient Group FAP
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.
Other : Epi proColon Testing
Plasma specimens will be collected and processed according to the Instructions for Use of the Epi proColon investigational device. For circulating colonic epithelial cell analysis, at least one ml whole blood will be required for analysis. Samples will be analyzed for circulating epithelial cells using the geometrically enhanced immunocapture device (GEDI; Gleghorn et al., 2009). Circulating epithelial cells will be captured using EpCAM antibodies and quantified by immunofluorescence microscopy as defined as cells that are DAPI+, CK+, CD45-. Captured cells will be fixed and stored at -20ËšC.

Patient Group Lynch Syndrome
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.
Other : Epi proColon Testing
Plasma specimens will be collected and processed according to the Instructions for Use of the Epi proColon investigational device. For circulating colonic epithelial cell analysis, at least one ml whole blood will be required for analysis. Samples will be analyzed for circulating epithelial cells using the geometrically enhanced immunocapture device (GEDI; Gleghorn et al., 2009). Circulating epithelial cells will be captured using EpCAM antibodies and quantified by immunofluorescence microscopy as defined as cells that are DAPI+, CK+, CD45-. Captured cells will be fixed and stored at -20ËšC.

Patient Group MAP / MYH
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.
Other : Epi proColon Testing
Plasma specimens will be collected and processed according to the Instructions for Use of the Epi proColon investigational device. For circulating colonic epithelial cell analysis, at least one ml whole blood will be required for analysis. Samples will be analyzed for circulating epithelial cells using the geometrically enhanced immunocapture device (GEDI; Gleghorn et al., 2009). Circulating epithelial cells will be captured using EpCAM antibodies and quantified by immunofluorescence microscopy as defined as cells that are DAPI+, CK+, CD45-. Captured cells will be fixed and stored at -20ËšC.

Arm Intervention/Treatment
Control Group (FAP Genetically-Related)
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.
Other : Epi proColon Testing
Patient Group FAP
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.
Other : Epi proColon Testing
Patient Group Lynch Syndrome
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.
Other : Epi proColon Testing
Patient Group MAP / MYH
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.
Other : Epi proColon Testing

Recruitment Information

Recruitment Status:Recruiting
Enrollment46
Completion DateAugust 01, 2020
Eligibility Criteria: 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

Exclusion Criteria:
- Known infection with Human Immunodeficiency Virus (HIV), Hepatitis B Virus (HBV), or Hepatitis C Virus (HCV)
- Current diagnosis of colorectal cancer
- Pregnancy
GenderAll
Age18 Years to N/A
Accepts Healthy VolunteersAccepts Healthy Volunteers
Contacts
Listed Location Countries
United States

Administrative Information

NCT Number:NCT02198092
Other Study ID Numbers
816593
Has Data Monitoring CommitteeNo
U.S. FDA-regulated Product Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Device Product Not Approved or Cleared by U.S. FDA: No
IPD Sharing Statement
Not Available
Responsible Party,
Study Sponsor
University of Pennsylvania
Collaborators
Epigenomics, Inc
Investigators
Principal Investigator
Anil K. Rustgi, MD
University of Pennsylvania