Familial Adenomatous PolyposisSeptin9NCT02198092
Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes
An observational study of Familial Adenomatous Polyposis and Map Syndrome, run by University of Pennsylvania at 1 site in United States.
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… Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Familial Adenomatous Polyposis, Map Syndrome, Lynch Syndrome
- What is being tested?
- Epi proColon Testing
- How many people
- 24 participants
- Where
- 1 siteUnited States
- Study dates
- Jul 2014to Aug 2019
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
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
Who may be able to join
- 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
Show all 11Show fewer
- 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
Who cannot join
- Known infection with Human Immunodeficiency Virus (HIV), Hepatitis B Virus (HBV), or Hepatitis C Virus (HCV)
- Current diagnosis of colorectal cancer
- Pregnancy
Trial locations and contacts
1 site in 1 country.
United States1 site
University of Pennsylvania
Philadelphia, Pennsylvania, 19104
About this study
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.
- Being tested
- Epi proColon Testing
- Keywords
- familial adenomatous polyposis, multiple adenomatous polyposis, lynch syndrome, hnpcc, colorectal cancer, genetic syndrome, epigenomics, septin9
- Medical subject headings
- Adenomatous Polyposis Coli, Colorectal Neoplasms, Hereditary Nonpolyposis, Colorectal Neoplasms, Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Epi proColon TestingOther
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.
| Study group | Role | What they receive |
|---|---|---|
| Patient Group FAP | Clinical diagnosis of familial adenomatous polyposis (FAP).
The patients of the disease and control groups participating in the study are followed up clinically and with blood draws at least every 6 months for the duration of 2 years. These follow-ups might be more frequent, if warranted by the clinical course of the individual disease in the participating patients. Blood draws in FAP patients should always be accompanied by blood draws in their family member controls.
If colectomy is performed in a patient of any disease group within the study participation period, additional blood draws will occur prior to any surgical bowel preparation and within a 28-day window after surgery. Receives: Other: Epi proColon Testing | |
| Patient Group Lynch Syndrome | Clinical diagnosis of Lynch Syndrome, also known as HNPCC.
The patients of the disease and control groups participating in the study are followed up clinically and with blood draws at least every 6 months for the duration of 2 years. These follow-ups might be more frequent, if warranted by the clinical course of the individual disease in the participating patients.
If colectomy is performed in a patient of any disease group within the study participation period, additional blood draws will occur prior to any surgical bowel preparation and within a 28-day window after surgery. Receives: Other: Epi proColon Testing | |
| Patient Group MAP / MYH | Clinical diagnosis of MYH-associated polyposis and presence of more than 20 colon polyps.
The patients of the disease and control groups participating in the study are followed up clinically and with blood draws at least every 6 months for the duration of 2 years. The follow-ups might be more frequent, if warranted by the clinical course of the individual disease in the participating patients.
If colectomy is performed in a patient of any disease group within the study participation period, additional blood draws will occur prior to any surgical bowel preparation and within a 28-day window after surgery. Receives: Other: Epi proColon Testing | |
| Control Group (FAP Genetically-Related) | Genetically related family member of enrolled FAP patient.
Controls, i.e. relatives of patients: Willingness to give blood at each routine follow-up as advised for the diseased relative.
The patients of the control group participating in the study are followed up clinically and with blood draws at least every 6 months for the duration of 2 years. These follow-ups might be more frequent, if warranted by the clinical course of the individual disease in the participating FAP patients.
If colectomy is performed in a FAP patient of any disease group within the study participation period, additional blood draws will occur prior to any surgical bowel preparation and within a 28-day window after surgery.
Blood draws in FAP patients should always be accompanied by blood draws in their family member controls. Receives: Other: Epi proColon Testing |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Up to 2 years
Secondary outcomes (3)
Septin9 Plasma Levels Versus Polyps
- Correlation of quantitative Septin9 plasma levels with the approx. number of polyps
Measured: Up to 2 years
Pre- and Post-Colectomy Colonic Epithelial Cell Numbers
- Correlation of circulating colonic epithelial cell number pre- and post-colectomy
Measured: Up to 2 years
Septin9 Levels Versus Circulating Colonic Epithelial Cell Numbers
- Correlation of circulating colonic epithelial cell number with Septin9 levels
Measured: Up to 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Jul 2014 (estimated)
- Study startJul 2014
- Primary completionAug 2019
- Study completionAug 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Familial Adenomatous PolyposisStudies of the same condition, open and under way.
- More trials run by University of PennsylvaniaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 24 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Pennsylvania
- Sponsor type
- University, hospital or other
- Collaborators
- Epigenomics, Inc
- Responsible party
- Sponsor
- Investigators
- Bryson Katona, MD, Principal investigator, University of Pennsylvania
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02198092
- Sponsor's protocol ID
- 816593
- Acronym
- Septin9
- Status last verified
- Aug 2019
- First submitted
- 15 Jul 2014
- Last updated
- 28 Aug 2019
- Results posted
- No
- Data monitoring committee
- No
Publications
Rustgi AK. The genetics of hereditary colon cancer. Genes Dev. 2007 Oct 15;21(20):2525-38. doi: 10.1101/gad.1593107.
PubMed 17938238Galiatsatos P, Foulkes WD. Familial adenomatous polyposis. Am J Gastroenterol. 2006 Feb;101(2):385-98. doi: 10.1111/j.1572-0241.2006.00375.x.
PubMed 16454848Lofton-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.
PubMed 18089654
Study at a glance
From the registry record, last updated by the sponsor on 28 Aug 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes
- ClinicalTrials.gov ID
- NCT02198092
- Acronym / sponsor ID
- Septin9 / 816593
- Keywords
- familial adenomatous polyposis, multiple adenomatous polyposis, lynch syndrome, hnpcc, colorectal cancer, genetic syndrome, epigenomics, septin9
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 24 participants (actual)
- Lead sponsor
- University of PennsylvaniaUniversity, hospital or other
- Collaborators
- Epigenomics, Inc
- Study start
- Jul 2014
- Primary completion
- Aug 2019 (actual)
- Study completion
- Aug 2019 (actual)
- First posted
- 23 Jul 2014 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Patient Group FAP | – | Other: Epi proColon TestingClinical diagnosis of familial adenomatous polyposis (FAP). The patients of the disease and control groups participating in the study are followed up clinically and with blood draws at least every 6 months for the duration of 2 years. These follow-ups might be more frequent, if warranted by the clinical course of the individual disease in the participating patients. Blood draws in FAP patients should always be accompanied by blood draws in their family member controls. If colectomy is performed in a patient of any disease group within the study participation period, additional blood draws will occur prior to any surgical bowel preparation and within a 28-day window after surgery. |
| Patient Group Lynch Syndrome | – | Other: Epi proColon TestingClinical diagnosis of Lynch Syndrome, also known as HNPCC. The patients of the disease and control groups participating in the study are followed up clinically and with blood draws at least every 6 months for the duration of 2 years. These follow-ups might be more frequent, if warranted by the clinical course of the individual disease in the participating patients. If colectomy is performed in a patient of any disease group within the study participation period, additional blood draws will occur prior to any surgical bowel preparation and within a 28-day window after surgery. |
| Patient Group MAP / MYH | – | Other: Epi proColon TestingClinical diagnosis of MYH-associated polyposis and presence of more than 20 colon polyps. The patients of the disease and control groups participating in the study are followed up clinically and with blood draws at least every 6 months for the duration of 2 years. The follow-ups might be more frequent, if warranted by the clinical course of the individual disease in the participating patients. If colectomy is performed in a patient of any disease group within the study participation period, additional blood draws will occur prior to any surgical bowel preparation and within a 28-day window after surgery. |
| Control Group (FAP Genetically-Related) | – | Other: Epi proColon TestingGenetically related family member of enrolled FAP patient. Controls, i.e. relatives of patients: Willingness to give blood at each routine follow-up as advised for the diseased relative. The patients of the control group participating in the study are followed up clinically and with blood draws at least every 6 months for the duration of 2 years. These follow-ups might be more frequent, if warranted by the clinical course of the individual disease in the participating FAP patients. If colectomy is performed in a FAP patient of any disease group within the study participation period, additional blood draws will occur prior to any surgical bowel preparation and within a 28-day window after surgery. Blood draws in FAP patients should always be accompanied by blood draws in their family member controls. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- 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
Key inclusion criteria (11 listed)
- Informed consent provided
- Age > or = to 18 years of age
- Patient group FAP
- Patient group Lynch syndrome Clinical diagnosis of Lynch syndrome
- Patient group MAP
Key exclusion criteria (3 listed)
- Known infection with Human Immunodeficiency Virus (HIV), Hepatitis B Virus (HBV), or Hepatitis C Virus (HCV)
- Current diagnosis of colorectal cancer
- Pregnancy
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Epi proColon TestingPlasma 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. | Other | Control Group (FAP Genetically-Related), Patient Group FAP, Patient Group Lynch Syndrome, Patient Group MAP / MYH |
Primary outcome
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.
3 secondary outcomes
Septin9 Plasma Levels Versus Polyps
Time frame: Up to 2 years
Pre- and Post-Colectomy Colonic Epithelial Cell Numbers
Time frame: Up to 2 years
Septin9 Levels Versus Circulating Colonic Epithelial Cell Numbers
Time frame: Up to 2 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Aug 2019.
- Background: PubMed 17938238Rustgi AK. The genetics of hereditary colon cancer. Genes Dev. 2007 Oct 15;21(20):2525-38. doi: 10.1101/gad.1593107.
- Background: PubMed 16454848Galiatsatos P, Foulkes WD. Familial adenomatous polyposis. Am J Gastroenterol. 2006 Feb;101(2):385-98. doi: 10.1111/j.1572-0241.2006.00375.x.
- Background: PubMed 18089654Lofton-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.
Related trials for Familial Adenomatous Polyposis
RecruitingPhase 1
Testing for Safety and Colorectal Cancer Preventive Effects of ONC201
Colorectal Adenomatous Polyp, Colorectal Carcinoma
RecruitingPhase 1/2
FOG-001 in Locally Advanced or Metastatic Solid Tumors
Cancer, Colorectal Cancer
Enrolling by invitation
Investigation of β-hydroxybutyrate Supplementation as Chemoprevention in Familial Adenomatous Polyposis
FAP, Familial Adenomatous Polyposis
RecruitingPhase 2
An Investigational Drug (TPST-1495) in Patients With Familial Adenomatous Polyposis
Colorectal Carcinoma, Familial Adenomatous Polyposis
Not yet recruitingPhase 1
A Safety Study of ST316 in Participants With Familial Adenomatous Polyposis (FAP).
Familial Adenomatous Polyposis (FAP)
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Bryson Katona, MD principal investigator
University of Pennsylvania
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Familial Adenomatous Polyposis and Map Syndrome, run by University of Pennsylvania at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 28 Aug 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Septin9 Plasma Levels (time frame: Up to 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02198092, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Aug 2019.