Colorectal Cancer, Familial Adenomatous Polyposis, Hnpcc, Lynch Syndrome, Map Syndrome
Conditions
Keywords
familial adenomatous polyposis, multiple adenomatous polyposis, lynch syndrome, hnpcc, colorectal cancer, genetic syndrome, epigenomics, septin9
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.
Interventions
OTHEREpi 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 -20˚C.
Sponsors
Epigenomics, Inc
University of Pennsylvania
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Septin9 Plasma Levels | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Septin9 Plasma Levels Versus Polyps | Up to 2 years | • Correlation of quantitative Septin9 plasma levels with the approx. number of polyps |
| Pre- and Post-Colectomy Colonic Epithelial Cell Numbers | Up to 2 years | • Correlation of circulating colonic epithelial cell number pre- and post-colectomy |
| Septin9 Levels Versus Circulating Colonic Epithelial Cell Numbers | Up to 2 years | • Correlation of circulating colonic epithelial cell number with Septin9 levels |
Other
| Measure | Time frame | Description |
|---|---|---|
| Septin9 Monitoring in Individual Groups | Up to 2 years | 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. |
| Circulating Colonic Epithelial Cells at Blood Draws | Up to 2 years | The secondary endpoints of the study are the documented results of the circulating colonic epithelial cell numbers for each blood draw performed. |
Countries
United States
Outcome results
None listed