MUTYH-associated Polyposis

MutYH-associated Polyposis Clinical Trial

— MAP  

Official title:

Diagnosis and Treatment of Russian Patients With MutYH-associated Polyposis

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03847532
• Other study ID #: 119
• Status: Recruiting
• Phase: N/A
• Start date: October 10, 2018
• Est. completion date: May 31, 2021

Study information

• Verified date: April 2019
• Source: State Scientific Centre of Coloproctology, Russian Federation
• Contact: Alex Tsukanov, 37
• Phone: +7 (499) 642 54 41
• Email: tsukanov81[@]rambler.ru
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 25
• Est. completion date: May 31, 2021
• Est. primary completion date: October 10, 2020
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years to 71 Years

Eligibility

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

Related Conditions & MeSH terms

• Colorectal Neoplasms
• MutYH-associated Polyposis
• Nasopharyngeal Neoplasms

Intervention

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.

Locations

Country	Name	City	State
Russian Federation	State Scientific Centre of Coloproctology	Moscow

Sponsors (1)

Lead Sponsor	Collaborator
State Scientific Centre of Coloproctology, Russian Federation

Country where clinical trial is conducted

Russian Federation, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Patients with germIine mutations in MutYH	number of patients with monoallelic and biallelic mutations in the MutYH-gene	from 0 to 6 months