Sirolimus for Cowden Syndrome With Colon Polyposis

• Status: Recruiting
• Trial end date: 2023-08-01
• Target enrollment: 0
• Participant gender: All

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 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.

• Phase: Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Ohio State University
• Collaborator: PTEN Research
• Treatments: Everolimus; Sirolimus

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