Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes

Study Overview
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Brief Summary
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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.

Official Title
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Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes

Conditions
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Familial Adenomatous Polyposis, Map Syndrome, Lynch Syndrome, Hnpcc, Colorectal Cancer

Intervention / Treatment
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* Other: Epi proColon Testing


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Patient Group FAP<br>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<br>* 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 -20˚C.<br>|
| Patient Group Lynch Syndrome<br>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<br>* 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 -20˚C.<br>|
| Patient Group MAP / MYH<br>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<br>* 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 -20˚C.<br>|
| Control Group (FAP Genetically-Related)<br>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<br>* 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 -20˚C.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Septin9 Plasma Levels | 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. | Up to 2 years | 

Secondary Outcome Measures

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

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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familial adenomatous polyposis, multiple adenomatous polyposis, lynch syndrome, hnpcc, colorectal cancer, genetic syndrome, epigenomics, septin9