Sirolimus for Cowden Syndrome with Colon Polyposis

Recruiting in Palo Alto (17 mi)

Overseen byPeter P. Stanich

Age: 18+

Sex: Any

Travel: May Be Covered

Time Reimbursement: Varies

Trial Phase: Phase 2

Waitlist Available

Sponsor: Ohio State University

No Placebo Group

Prior Safety Data

Breakthrough Therapy

Approved in 4 Jurisdictions

Trial Summary

What is the purpose of this trial?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 reduction in the number of colon polyps with the use of the medication sirolimus for a very short time period. This study is investigating sirolimus and its effect on the number of colon polyps in patients with Cowden syndrome and polyposis over a 1 year period.

Eligibility Criteria

This trial is for adults over 18 with Cowden syndrome or related disorders, who have a genetic mutation called PTEN and more than 50 colon polyps that can't be removed endoscopically. It's not for those with chronic kidney disease, past high-grade colon tumors, colectomy history, or current/pending pregnancy.

Inclusion Criteria

I have a confirmed PTEN gene mutation.

I have Cowden syndrome or a related genetic condition.

I am able to understand and agree to participate in the study.

+2 more

Exclusion Criteria

I have had colon cancer or a serious type of colon polyp.

I have long-term kidney disease.

You are pregnant, planning to become pregnant, or planning to father a child within 3 months after treatment.

+2 more

Participant Groups

The study tests Sirolimus on patients with Cowden syndrome to see if it reduces the number of colon polyps over one year. Participants must have many polyps and a specific genetic mutation linked to their condition.

1Treatment groups

Experimental Treatment

Group I: Treatment armExperimental Treatment1 Intervention

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.

Sirolimus is already approved in United States, European Union, Canada, Japan for the following indications:

🇺🇸 Approved in United States as Rapamune for: