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Completed

NCT Number: NCT02198092

Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes

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.

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Key information

Conditions

Familial Adenomatous Polyposis Adenoma Adenomatous Polyposis Coli Adenomatous Polyps Colonic Diseases Colorectal Cancer Colorectal Neoplasms Colorectal Neoplasms, Hereditary Nonpolyposis Congenital, Hereditary, and Neonatal Diseases and Abnormalities DNA Repair-Deficiency Disorders Digestive System Diseases Digestive System Neoplasms Gastrointestinal Diseases Gastrointestinal Neoplasms Genetic Diseases, Inborn HNPCC Intestinal Diseases Intestinal Neoplasms Intestinal Polyposis Lynch Syndrome Map Syndrome Metabolic Diseases Neoplasms Neoplasms by Histologic Type Neoplasms by Site Neoplasms, Glandular and Epithelial Neoplastic Syndromes, Hereditary Nutritional and Metabolic Diseases Rectal Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

University of Pennsylvania

Philadelphia, Pennsylvania, 19104, United States

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Epi proColon Testing

Other

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.

Primary outcomes

  1. Septin9 Plasma Levels

    Time frame: 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 outcomes

  1. Septin9 Plasma Levels Versus Polyps

    Time frame: Up to 2 years

    • Correlation of quantitative Septin9 plasma levels with the approx. number of polyps

  2. Pre- and Post-Colectomy Colonic Epithelial Cell Numbers

    Time frame: Up to 2 years

    • Correlation of circulating colonic epithelial cell number pre- and post-colectomy

  3. Septin9 Levels Versus Circulating Colonic Epithelial Cell Numbers

    Time frame: Up to 2 years

    • Correlation of circulating colonic epithelial cell number with Septin9 levels

Other outcomes

  1. Septin9 Monitoring in Individual Groups

    Time frame: 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.

  2. Circulating Colonic Epithelial Cells at Blood Draws

    Time frame: 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.

Sponsors and collaborators

Lead sponsor

University of Pennsylvania

Other

Collaborators

  • Epigenomics, Inc

Registry information

Acronym: Septin9

Important dates

Study start
2014
Primary completion
2019
Study completion
2019
First posted
Jul 23, 2014
Registry last updated
Aug 28, 2019

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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