Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes

study id #: NCT02198092

condition: Familial Adenomatous Polyposis, Map Syndrome, Lynch Syndrome, HNPCC, Colorectal Cancer

status: Recruiting

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.

intervention: Other: Epi proColon Testing

start date: July 2014

estimated completion: August 2017

last updated: September 6, 2016

phase of development: Not Available

size / enrollment: 46

study design: Observational Model: Case Control, Time Perspective: Prospective

primary outcomes:

• Septin9 Plasma Levels [ Time Frame:Up to 2 years ] [ Designated as safety issue: No ]
  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 outcomes:

• Septin9 Plasma Levels Versus Polyps [ Time Frame:Up to 2 years ] [ Designated as safety issue:No ]
  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 ] [ Designated as safety issue: No ]
  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 ] [ Designated as safety issue: No ]
  Correlation of circulating colonic epithelial cell number with Septin9 levels

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

sponsor: University of Pennsylvania

contacts:
Julie Starr
(215) 349-8527
jstarr@mail.med.upenn.edu
Carly Price
(215) 349-8556
carly.price@uphs.upenn.edu

investigators: Anil K. Rustgi, MD

locations: United States