Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes

University of Pennsylvania

Status: Completed

Conditions: Familial Adenomatous Polyposis; Lynch Syndrome; Hnpcc; Map Syndrome; Colorectal Cancer

Treatments: Other: Epi proColon Testing

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT02198092

816593

Details and patient eligibility

About

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.

Enrollment: 24 patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

24 participants in 4 patient groups

Patient Group FAP

Description:

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.

Treatment:

Other: Epi proColon Testing

Patient Group Lynch Syndrome

Description:

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.

Treatment:

Other: Epi proColon Testing

Patient Group MAP / MYH

Description:

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.

Treatment:

Other: Epi proColon Testing

Control Group (FAP Genetically-Related)

Description:

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.

Treatment:

Other: Epi proColon Testing