Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes

Colorectal Cancer Clinical Trial

— Septin9  

Official title:

Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02198092
• Other study ID #: 816593
• Status: Completed
• Start date: July 2014
• Est. completion date: August 2019

Study information

• Verified date: August 2019
• Source: University of Pennsylvania
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 24
• Est. completion date: August 2019
• Est. primary completion date: August 2019
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Adenomatous Polyposis Coli
• Colorectal Cancer
• Colorectal Neoplasms
• Colorectal Neoplasms, Hereditary Nonpolyposis
• Familial Adenomatous Polyposis
• Hnpcc
• Lynch Syndrome
• Map Syndrome
• Syndrome

Intervention

Other:
• Epi 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.

Locations

Country	Name	City	State
United States	University of Pennsylvania	Philadelphia	Pennsylvania

Sponsors (2)

Lead Sponsor	Collaborator
University of Pennsylvania	Epigenomics, Inc

Country where clinical trial is conducted

United States, 

References & Publications (3)

Galiatsatos P, Foulkes WD. Familial adenomatous polyposis. Am J Gastroenterol. 2006 Feb;101(2):385-98. Review. — View Citation

Lofton-Day C, Model F, Devos T, Tetzner R, Distler J, Schuster M, Song X, Lesche R, Liebenberg V, Ebert M, Molnar B, Grützmann R, Pilarsky C, Sledziewski A. DNA methylation biomarkers for blood-based colorectal cancer screening. Clin Chem. 2008 Feb;54(2):414-23. Epub 2007 Dec 18. — View Citation

Rustgi AK. The genetics of hereditary colon cancer. Genes Dev. 2007 Oct 15;21(20):2525-38. Review. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Septin9 Monitoring in Individual Groups	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.	Up to 2 years
Other	Circulating Colonic Epithelial Cells at Blood Draws	The secondary endpoints of the study are the documented results of the circulating colonic epithelial cell numbers for each blood draw performed.	Up to 2 years
Primary	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	Septin9 Plasma Levels Versus Polyps	• Correlation of quantitative Septin9 plasma levels with the approx. number of polyps	Up to 2 years
Secondary	Pre- and Post-Colectomy Colonic Epithelial Cell Numbers	• Correlation of circulating colonic epithelial cell number pre- and post-colectomy	Up to 2 years
Secondary	Septin9 Levels Versus Circulating Colonic Epithelial Cell Numbers	• Correlation of circulating colonic epithelial cell number with Septin9 levels	Up to 2 years