MUTYH-associated Polyposis

NCT03847532 | Unknown

• 1 other identifier: 119
• Study Type: interventional
• Target: 25
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

MutYH-associated Polyposis

Keywords

MutYH-associated polyposis; familial adenomatous polyposis; biallelic mutation; monoallelic mutation; colproctectomy

Outcome Measures

Primary Outcomes (1)

• Patients with germIine mutations in MutYH

  number of patients with monoallelic and biallelic mutations in the MutYH-gene

  from 0 to 6 months

Study Arms (3)

Patients with mutations in the MutYH-gene

OTHER

Patients with established diagnosis of MutYH-associated polyposis with monoallelic and biallelic mutations in the MutYH-gene

Genetic: Sanger sequencing method

Patients with multiple colon polyps

OTHER

Number of polyps from 4+

Genetic: Sanger sequencing method

Control sample

OTHER

Patients who did not have colon polyps

Genetic: Sanger sequencing method

Interventions

Sanger sequencing method GENETIC

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.

Also known as: polymerase chain reaction, SSCP

Control sample; Patients with multiple colon polyps; Patients with mutations in the MutYH-gene

Eligibility Criteria

• Age: 18 Years - 71 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

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

You may not qualify if:

• presence of mutations in the APC gene
• patient's refusal to participate in the study

Sponsors & Collaborators

• State Scientific Centre of Coloproctology, Russian Federation: lead

Study Sites (1)

State Scientific Centre of Coloproctology

Moscow, 123423, Russia

RECRUITING

MeSH Terms

Conditions

Adenomatous Polyposis Coli

Interventions

Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational

Condition Hierarchy (Ancestors)

Adenomatous Polyps; Adenoma; Neoplasms, Glandular and Epithelial; Neoplasms by Histologic Type; Neoplasms; Colorectal Neoplasms; Intestinal Neoplasms; Gastrointestinal Neoplasms; Digestive System Neoplasms; Neoplasms by Site; Neoplastic Syndromes, Hereditary; Digestive System Diseases; Gastrointestinal Diseases; Colonic Diseases; Intestinal Diseases; Intestinal Polyposis; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Nucleic Acid Amplification Techniques; Genetic Techniques; Investigative Techniques; Polymorphism, Genetic; Genetic Variation; Genetic Phenomena

Central Study Contacts

Alex Tsukanov, 37

CONTACT

+7 (499) 642 54 41; tsukanov81@rambler.ru

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 20, 2019
• First Posted: February 20, 2019
• Study Start: October 10, 2018
• Primary Completion: October 10, 2020
• Study Completion: May 31, 2021
• Last Updated: April 4, 2019

Record last verified: 2019-04

Data Sharing

• IPD Sharing: Will not share

Locations

RU (1)