Clinical trial NCT02198092: Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes
Official title: Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Familial Adenomatous Polyposis
Map Syndrome
Lynch Syndrome
Hnpcc
Colorectal Cancer
Keywords: familial adenomatous polyposis
multiple adenomatous polyposis
lynch syndrome
hnpcc
colorectal cancer
genetic syndrome
epigenomics
septin9
Lead sponsor: University of Pennsylvania
Sponsor class: OTHER
Collaborators: name: Epigenomics, Inc
First posted: 2014-07-23
Enrollment: 24
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Age \> or = to 18 years of age Clinical diagnosis of familial adenomatous polyposis Clinical diagnosis of Lynch syndrome Clinical diagnosis of MYH-associated polyposis and presence of more than 20 colon polyps Genetically related family member of patients with clinical diagnosis of FAP for Control group

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.


Eligibility criteria: 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

Primary outcomes:
measure: Septin9 Plasma Levels
timeFrame: Up to 2 years
Secondary outcomes:
measure: Septin9 Plasma Levels Versus Polyps
timeFrame: Up to 2 years
measure: Pre- and Post-Colectomy Colonic Epithelial Cell Numbers
timeFrame: Up to 2 years
measure: Septin9 Levels Versus Circulating Colonic Epithelial Cell Numbers
timeFrame: Up to 2 years
Other outcomes:
measure: Septin9 Monitoring in Individual Groups
timeFrame: Up to 2 years
measure: Circulating Colonic Epithelial Cells at Blood Draws
timeFrame: Up to 2 years
Locations:
city: Philadelphia
country: United States
facility: University of Pennsylvania
state: Pennsylvania
Study officials:
affiliation: University of Pennsylvania
name: Bryson Katona, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Rustgi AK. The genetics of hereditary colon cancer. Genes Dev. 2007 Oct 15;21(20):2525-38. doi: 10.1101/gad.1593107.
citation: Galiatsatos P, Foulkes WD. Familial adenomatous polyposis. Am J Gastroenterol. 2006 Feb;101(2):385-98. doi: 10.1111/j.1572-0241.2006.00375.x.
citation: Lofton-Day C, Model F, Devos T, Tetzner R, Distler J, Schuster M, Song X, Lesche R, Liebenberg V, Ebert M, Molnar B, Grutzmann R, Pilarsky C, Sledziewski A. DNA methylation biomarkers for blood-based colorectal cancer screening. Clin Chem. 2008 Feb;54(2):414-23. doi: 10.1373/clinchem.2007.095992. Epub 2007 Dec 18.