Diagnosis and Treatment of Russian Patients With MutYH-associated Polyposis
Trial Snapshot
- Phase
- Not Applicable
- Sponsor
- Enrollment
- 25
- Locations
- 2
- Primary Endpoint
- Patients with germIine mutations in MutYH
Study Overview
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.
Study Design
- Study Type
- Interventional
- Allocation
- Non Randomized
- Intervention Model
- Single Group
- Primary Purpose
- Treatment
- Masking
- None
Eligibility Criteria
- Ages
- 18 Years to 71 Years (Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- Yes
Inclusion Criteria
- •patients with multiple colon polyps (n polyps = 4+)
- •patient consent to participate in the study
Exclusion Criteria
- •presence of mutations in the APC gene
- •patient's refusal to participate in the study
Arms & Interventions
Patients with mutations in the MutYH-gene
Patients with established diagnosis of MutYH-associated polyposis with monoallelic and biallelic mutations in the MutYH-gene
Intervention: Sanger sequencing method (Genetic)
Patients with multiple colon polyps
Number of polyps from 4+
Intervention: Sanger sequencing method (Genetic)
Control sample
Patients who did not have colon polyps
Intervention: Sanger sequencing method (Genetic)
Outcomes
Primary Outcomes
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
Secondary Outcomes
No secondary outcomes reported