Sirolimus for Cowden Syndrome With Colon Polyposis
PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome, PTEN Hamartoma Syndrome
About this trial
This is an interventional treatment trial for PTEN Gene Mutation focused on measuring PTEN, Cowden syndrome, PHTS, Colon polyposis, sirolimus, Rapamycin, mTOR inhibitor
Eligibility Criteria
Inclusion Criteria:
- Cowden syndrome or other PTEN hamartoma tumor syndrome spectrum disorder
- Confirmed pathogenic or likely pathogenic PTEN germline mutation on genetic testing
- Previous colonoscopy with a burden of colon polyps that are too numerous to clear endoscopically (this is usually when polyp burden is estimated to be over 50 colon polyps)
- Age 18 or greater
- Capacity to consent to study
Exclusion Criteria:
- 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
Sites / Locations
- The Ohio State University Wexner Medical CenterRecruiting
Arms of the Study
Arm 1
Experimental
Treatment arm
There will be a clinic visit and colonoscopy at study entrance with standard of care sampling and assessment of polyps, including resection of concerning polyps. The investigators will also collect data on well-being via the SF-36 health survey (a validated questionnaire to help monitor this aspect given anecdotal patient-level reports of improvement while on therapy). Study subjects will then begin sirolimus 2 mg by mouth daily for 1 year. Laboratories will be checked at 4 days after initiation, at 2 weeks after initiation, then every 4 weeks for 3 months, then every 3 months to complete the year of therapy Participants will have a clinic visit at 3, 6 and 9 months and include well-being assessment with the SF-36 health survey. Participants will have a clinic visit with well-being assessment and perform colonoscopy at study closure at 12 months. The investigators will perform standard of care sampling and assessment of polyps, including resection of concerning polyps.