Neoplasms

Digestive System Diseases

Diseases and Abnormalities at or Before Birth

All Conditions

Symptoms and General Pathology

Nutritional and Metabolic Diseases

Rare Diseases

Adenomatous Polyposis Coli

Syndrome

Colorectal Neoplasms

Colorectal Neoplasms, Hereditary Nonpolyposis

Intestinal Neoplasms

Gastrointestinal Neoplasms

Digestive System Neoplasms

Gastrointestinal Diseases

Colonic Diseases

Intestinal Diseases

Rectal Diseases

Neoplastic Syndromes, Hereditary

Genetic Diseases, Inborn

DNA Repair-Deficiency Disorders

Metabolic Diseases

Polyps

Adenomatous Polyps

Adenoma

Neoplasms, Glandular and Epithelial

Neoplasms by Histologic Type

Intestinal Polyposis

Familial Adenomatous Polyposis

MYH-associated Polyposis

All Drugs and Chemicals

Herbal and Botanical

Antibodies

Immunoglobulins

Cola

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.

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.

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.

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.

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.

Epi proColon Testing

Bryson Katona, MD

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.

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.

Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes

The primary endpoint of the study is the completion of Septin9 monitoring in the individual patient disease groups (or family controls) over a period of two years or in case of colectomy within 28 days after colectomy. The endpoint is defined as the documented receipt of blood draws at least every six months on the scheduled healthcare visit at the institute after enrollment over the two years participation period. If any patient needs to undergo colectomy within the two years of study participation, the endpoint is defined as documented receipt of both blood draws occured prior to any surgical bowel preparation and 28 days at the latest after surgery.

The secondary endpoints of the study are the documented results of the circulating colonic epithelial cell numbers for each blood draw performed.

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.

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

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

• Correlation of circulating colonic epithelial cell number with Septin9 levels

Spots Global Cancer Trial Database for epi procolon testing