MUTYH-associated Polyposis (MAP)
Primary Purpose
MutYH-associated Polyposis
Status
Unknown status
Phase
Not Applicable
Locations
Russian Federation
Study Type
Interventional
Intervention
Sanger sequencing method
Sponsored by
About this trial
This is an interventional treatment trial for MutYH-associated Polyposis focused on measuring MutYH-associated polyposis, familial adenomatous polyposis, biallelic mutation, monoallelic mutation, colproctectomy
Eligibility Criteria
Inclusion Criteria:
- patients with multiple colon polyps (n polyps = 4+)
- patient consent to participate in the study
Exclusion Criteria:
- presence of mutations in the APC gene
- patient's refusal to participate in the study
Sites / Locations
- State Scientific Centre of ColoproctologyRecruiting
Arms of the Study
Arm 1
Arm 2
Arm 3
Arm Type
Other
Other
Other
Arm Label
Patients with mutations in the MutYH-gene
Patients with multiple colon polyps
Control sample
Arm Description
Patients with established diagnosis of MutYH-associated polyposis with monoallelic and biallelic mutations in the MutYH-gene
Number of polyps from 4+
Patients who did not have colon polyps
Outcomes
Primary Outcome Measures
Patients with germIine mutations in MutYH
number of patients with monoallelic and biallelic mutations in the MutYH-gene
Secondary Outcome Measures
Full Information
NCT ID
NCT03847532
First Posted
January 20, 2019
Last Updated
April 2, 2019
Sponsor
State Scientific Centre of Coloproctology, Russian Federation
1. Study Identification
Unique Protocol Identification Number
NCT03847532
Brief Title
MUTYH-associated Polyposis
Acronym
MAP
Official Title
Diagnosis and Treatment of Russian Patients With MutYH-associated Polyposis
Study Type
Interventional
2. Study Status
Record Verification Date
April 2019
Overall Recruitment Status
Unknown status
Study Start Date
October 10, 2018 (Actual)
Primary Completion Date
October 10, 2020 (Anticipated)
Study Completion Date
May 31, 2021 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
State Scientific Centre of Coloproctology, Russian Federation
4. Oversight
Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No
5. Study Description
Brief Summary
This is single-center, prospective, non-randomized study
Detailed Description
The study will include patients with more than 3 polyps, without mutations in the APC gene. Using molecular genetic research methods (polymerase chain reaction, SSCP, sequencing by Sanger method) mutations in the MutYH gene will be studied. For all patients with mutations in the MutYH gene, an optimal diagnostic algorithm will be developed. The significance of monoallelic mutations in the MutYH gene will be determined. Clinical monitoring will be defined. Optimal amount of surgical intervention will be suggested.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
MutYH-associated Polyposis
Keywords
MutYH-associated polyposis, familial adenomatous polyposis, biallelic mutation, monoallelic mutation, colproctectomy
7. Study Design
Primary Purpose
Treatment
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
Non-Randomized
Enrollment
25 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
Patients with mutations in the MutYH-gene
Arm Type
Other
Arm Description
Patients with established diagnosis of MutYH-associated polyposis with monoallelic and biallelic mutations in the MutYH-gene
Arm Title
Patients with multiple colon polyps
Arm Type
Other
Arm Description
Number of polyps from 4+
Arm Title
Control sample
Arm Type
Other
Arm Description
Patients who did not have colon polyps
Intervention Type
Genetic
Intervention Name(s)
Sanger sequencing method
Other Intervention Name(s)
polymerase chain reaction, SSCP
Intervention Description
Amplification of the examined fragments of the MutYH gene was conducted using the PCR machine TP4-PCR-01-Tertsik (DNA-Technology, Russia) containing 25 μL of the reaction mixture: 0.1-1.0 μg genomic DNA; 0.25 μM of each original oligoprimer; 200 μM of each nucleosidetriphosphate; 1 U Taq polymerase; PCR buffer (500 mM Tris, 500 mM KCl, pH 8.74); 2.5 μL MgCl2 (25 mM)); deionized water; 20-30 μL of mineral oil. For MutYH gene analysis (Transcript ENST00000257430) Primer3 software (http:// frodo.wi.mit.edu/primer3/input.htm) was selected and 16 primer pairs. The variants of the primary structure in the obtained fragments were revealed using SSCP. DNA fragments containing electrophoretically identified variants were sequenced.
Primary Outcome Measure Information:
Title
Patients with germIine mutations in MutYH
Description
number of patients with monoallelic and biallelic mutations in the MutYH-gene
Time Frame
from 0 to 6 months
10. Eligibility
Sex
All
Minimum Age & Unit of Time
18 Years
Maximum Age & Unit of Time
71 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
Inclusion Criteria:
patients with multiple colon polyps (n polyps = 4+)
patient consent to participate in the study
Exclusion Criteria:
presence of mutations in the APC gene
patient's refusal to participate in the study
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Alex Tsukanov, 37
Phone
+7 (499) 642 54 41
Ext
55420
Email
tsukanov81@rambler.ru
Facility Information:
Facility Name
State Scientific Centre of Coloproctology
City
Moscow
ZIP/Postal Code
123423
Country
Russian Federation
Individual Site Status
Recruiting
12. IPD Sharing Statement
Plan to Share IPD
No
Learn more about this trial
MUTYH-associated Polyposis
We'll reach out to this number within 24 hrs