MUTYH-associated Polyposis (MAP)

April 2, 2019 updated by: State Scientific Centre of Coloproctology, Russian Federation

Diagnosis and Treatment of Russian Patients With MutYH-associated Polyposis

This is single-center, prospective, non-randomized study

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Unknown

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

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.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Interventional

Enrollment (Anticipated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
25

Phase

Phase

The stage of a clinical trial studying a drug or biological product, based on definitions developed by the U.S. Food and Drug Administration (FDA). The phase is based on the study's objective, the number of participants, and other characteristics. There are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. Not Applicable is used to describe trials without FDA-defined phases, including trials of devices or behavioral interventions.
  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Locations

  • Russian Federation
      • Moscow, Russian Federation, 123423
        • Recruiting
        • State Scientific Centre of Coloproctology

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

18 years to 71 years (ADULT, OLDER_ADULT)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Description

Inclusion Criteria:

  1. patients with multiple colon polyps (n polyps = 4+)
  2. patient consent to participate in the study

Exclusion Criteria:

  1. presence of mutations in the APC gene
  2. patient's refusal to participate in the study

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: TREATMENT
  • Allocation: NON_RANDOMIZED
  • Interventional Model: SINGLE_GROUP
  • Masking: NONE

Arms and Interventions

Participant Group / Arm

Participant Group / Arm

A group or subgroup of participants in a clinical trial that receives a specific intervention/treatment, or no intervention, according to the trial's protocol.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
OTHER: Patients with mutations in the MutYH-gene
Patients with established diagnosis of MutYH-associated polyposis with monoallelic and biallelic mutations in the MutYH-gene
Genetic: Sanger sequencing method
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.
Other Names:
  • polymerase chain reaction
  • SSCP
OTHER: Patients with multiple colon polyps
Number of polyps from 4+
Genetic: Sanger sequencing method
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.
Other Names:
  • polymerase chain reaction
  • SSCP
OTHER: Control sample
Patients who did not have colon polyps
Genetic: Sanger sequencing method
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.
Other Names:
  • polymerase chain reaction
  • SSCP

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
Patients with germIine mutations in MutYH
Time Frame: from 0 to 6 months
number of patients with monoallelic and biallelic mutations in the MutYH-gene
from 0 to 6 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
State Scientific Centre of Coloproctology, Russian Federation

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (ACTUAL)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
October 10, 2018

Primary Completion (ANTICIPATED)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
October 10, 2020

Study Completion (ANTICIPATED)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
May 31, 2021

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
January 20, 2019

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
February 18, 2019

First Posted (ACTUAL)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
February 20, 2019

Study Record Updates

Last Update Posted (ACTUAL)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
April 4, 2019

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
April 2, 2019

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
April 1, 2019

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • 119 (hhh)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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