MutYH-associated PolyposisMAPNCT03847532
MUTYH-associated Polyposis
A study testing Sanger sequencing method in people with MutYH-associated Polyposis, run by State Scientific Centre of Coloproctology, Russian Federation at 1 site in Russia.
Trial summary
This is single-center, prospective, non-randomized study Read more about this study
- Who is it for?
- Ages 18 to 71 yearsHealthy volunteers can take part
- Conditions the study is for
- MutYH-associated Polyposis
- What is being tested?
- Sanger sequencing method
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 25 participants
- Where
- 1 siteRussia
- Study dates
- 10 Oct 2018to 31 May 2021
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 71 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- patients with multiple colon polyps (n polyps = 4+)
- patient consent to participate in the study
Who cannot join
- presence of mutations in the APC gene
- patient's refusal to participate in the study
Trial locations and contacts
1 site in 1 country.
Russia1 site, 1 recruiting
- Recruiting
State Scientific Centre of Coloproctology
Moscow, 123423
About this study
Official title: Diagnosis and Treatment of Russian Patients With MutYH-associated Polyposis
This is single-center, prospective, non-randomized study
Read the 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
- Being tested
- Sanger sequencing method
- Keywords
- MutYH-associated polyposis, familial adenomatous polyposis, biallelic mutation, monoallelic mutation, colproctectomy
- Medical subject headings
- Adenomatous Polyposis Coli
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Sanger sequencing methodGenetic
Also called polymerase chain reaction, SSCP
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 group | Role | What they receive |
|---|---|---|
| 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 Receives: Genetic: Sanger sequencing method |
| Patients with multiple colon polyps | Other | Number of polyps from 4+ Receives: Genetic: Sanger sequencing method |
| Control sample | Other | Patients who did not have colon polyps Receives: Genetic: Sanger sequencing method |
What is being measured
The primary outcome is the main question the study is designed to answer.
Patients with germIine mutations in MutYH
number of patients with monoallelic and biallelic mutations in the MutYH-gene
Measured: from 0 to 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Feb 2019
- Study start10 Oct 2018
- Primary completion10 Oct 2020 (estimated)
- Study completion31 May 2021 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for MutYH-associated PolyposisStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 25 participants (estimated)
Sponsor and investigators
- Lead sponsor
- State Scientific Centre of Coloproctology, Russian Federation
- Sponsor type
- Other government
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03847532
- Sponsor's protocol ID
- 119
- Acronym
- MAP
- Status last verified
- Apr 2019
- First submitted
- 20 Jan 2019
- Last updated
- 4 Apr 2019
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 4 Apr 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Diagnosis and Treatment of Russian Patients With MutYH-associated Polyposis
- ClinicalTrials.gov ID
- NCT03847532
- Acronym / sponsor ID
- MAP / 119
- Conditions
- MutYH-associated Polyposis
- Keywords
- MutYH-associated polyposis, familial adenomatous polyposis, biallelic mutation, monoallelic mutation, colproctectomy
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 25 participants (estimated)
- Lead sponsor
- State Scientific Centre of Coloproctology, Russian FederationOther government
- Study start
- 10 Oct 2018 (actual)
- Primary completion
- 10 Oct 2020 (estimated)
- Study completion
- 31 May 2021 (estimated)
- First posted
- 20 Feb 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Patients with mutations in the MutYH-gene | Other | Genetic: Sanger sequencing methodPatients with established diagnosis of MutYH-associated polyposis with monoallelic and biallelic mutations in the MutYH-gene |
| Patients with multiple colon polyps | Other | Genetic: Sanger sequencing methodNumber of polyps from 4+ |
| Control sample | Other | Genetic: Sanger sequencing methodPatients who did not have colon polyps |
Who may qualify
- Ages
- 18 to 71 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (2 listed)
- patients with multiple colon polyps (n polyps = 4+)
- patient consent to participate in the study
Key exclusion criteria (2 listed)
- presence of mutations in the APC gene
- patient's refusal to participate in the study
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Sanger sequencing methodAlso: polymerase chain reaction, SSCPAmplification 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. | Genetic | Control sample, Patients with multiple colon polyps, Patients with mutations in the MutYH-gene |
Primary outcome
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
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Apr 2019.
- Individual participant dataSharing planned: No
Related trials for MutYH-associated Polyposis
Active, not recruitingObservational study
Familial Adenomatous Poliposys Italian Network (Rete Italiana Poliposi Adenomatosa Familiare)
Familial Adenomatous Polyposis (FAP), Attenuated Familial Adenomatous Polyposis (AFAP)
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Sanger sequencing method in people with MutYH-associated Polyposis, run by State Scientific Centre of Coloproctology, Russian Federation at 1 site in Russia.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 4 Apr 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Russia. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Alex Tsukanov, 37 (+7 (499) 642 54 41 ext. 55420, tsukanov81@rambler.ru), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Patients with germIine mutations in MutYH (time frame: from 0 to 6 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Apr 2019; AzTrials last refreshed its copy on 27 Oct 2026.