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Sirolimus for Cowden Syndrome With Colon Polyposis

CompletedPhase 2

Sponsor: Ohio State University

Conditions: PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome, PTEN Hamartoma Syndrome, Cowden Syndrome, Bannayan Syndrome

Interventions: Sirolimus

Countries: United States

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 overview

Sex: ALL

Age: 18 Years to 80 Years

Healthy volunteers: No

Study type: INTERVENTIONAL

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 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 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

Locations (1)

Columbus, Ohio, United States