MUTYH-associated Polyposis

Diagnosis and Treatment of Russian Patients With MutYH-associated Polyposis

Status

UNKNOWN

Phases

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT03847532

Acronym

MAP

Enrollment

Registered

2019-02-20

Start date

2018-10-10

Completion date

2021-05-31

Last updated

2019-04-04

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

MutYH-associated Polyposis

Keywords

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

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.

Interventions

GENETICSanger 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.

Study design

Allocation

NON_RANDOMIZED

Intervention model

SINGLE_GROUP

Primary purpose

TREATMENT

Masking

NONE

Eligibility

Sex/Gender

ALL

Age

18 Years to 71 Years

Healthy volunteers

Yes

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

Design outcomes

Primary

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

Countries

Russia

Contacts

Primary ContactAlex Tsukanov, 37

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

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026