NCT03847532

MUTYH-associated Polyposis

Diagnosis and Treatment of Russian Patients With MutYH-associated Polyposis

• Status: Unknown
• Phase: N/A
• Study type: Interventional
• Enrollment: 25 (estimated)
• Sponsor: State Scientific Centre of Coloproctology, Russian Federation · Other Government
• Sex: All
• Age: 18 Years – 71 Years
• Healthy volunteers: Accepted

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.

Conditions

• MutYH-associated Polyposis

Interventions

Type	Name	Description
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.

Timeline

• Start date: 2018-10-10
• Primary completion: 2020-10-10
• Completion: 2021-05-31
• First posted: 2019-02-20
• Last updated: 2019-04-04

Locations

1 site across 1 country: Russia