Status:
COMPLETED
Sirolimus for Cowden Syndrome With Colon Polyposis
Lead Sponsor:
Ohio State University
Collaborating Sponsors:
PTEN Research
Pfizer
Conditions:
PTEN Gene Mutation
PTEN Hamartoma Tumor Syndrome
Eligibility:
All Genders
18-80 years
Phase:
PHASE2
Brief Summary
Colon polyposis (the presence of multiple colon polyps) is very common with Cowden syndrome, as over 60% of patients have 50 or more polyps. In a previous clinical trial, some participants had reducti...
Detailed Description
PTEN is a tumor suppressor gene that regulates the cell cycle through the phosphoinositide 3-kinase (PI3K)/Akt/mTOR pathway. When germline mutations in PTEN occur, the result is Cowden syndrome (or le...
Eligibility Criteria
Inclusion
- Cowden syndrome or other PTEN hamartoma tumor syndrome spectrum disorder
- Confirmed pathogenic or likely pathogenic PTEN germline mutation on genetic testing
- Previous colonoscopy with colon polyposis. This is defined for the study as either too many polyps to remove endoscopically as judged by the performing physician at the last colonoscopy or findings indicating at least an InSIGHT stage 1 score (over 20 polyps).
- Age 18 or greater
- Capacity to consent to study
Exclusion
- Pregnancy or plans for pregnancy while on treatment or within 3 months of stopping treatment (for both women and men)
- Chronic kidney disease
- Chronic renal disease
- History of colon cancer or colon adenoma with high grade dysplasia
- History of colectomy
Key Trial Info
Start Date :
September 16 2019
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
June 5 2025
Estimated Enrollment :
5 Patients enrolled
Trial Details
Trial ID
NCT04094675
Start Date
September 16 2019
End Date
June 5 2025
Last Update
June 10 2025
Active Locations (1)
Enter a location and click search to find clinical trials sorted by distance.
1
The Ohio State University Wexner Medical Center
Columbus, Ohio, United States, 43210