Sirolimus for Cowden Syndrome With Colon Polyposis

  • End date
    Aug 30, 2024
  • participants needed
  • sponsor
    Ohio State University
Updated on 30 November 2021


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.


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 less commonly one of several related disorders collectively called the PTEN hamartoma tumor syndrome). This is characterized by the growth of hamartomas and a high risk of cancer in multiple organ systems. This includes colon polyps in 92.5% of Cowden syndrome patients and 64% with an estimated 50 or more polyps. Although outcomes of this are under reported, series suggest 20-38% of patients will receive colectomy.

Current clinical practice for Cowden syndrome is based on close surveillance for the development of cancers. Sirolimus (also known as rapamycin) is a specific inhibitor of mTOR that is FDA-approved for immunosuppression and use in several types of cancers as chemotherapy. It has also been used successfully in other hamartomatous syndromes including lymphangioleiomyomatosis. There is also a completed pilot clinical trial for adults with Cowden syndrome in which some had reduction in the number of colon polyps with the use of the medication sirolimus for a very short time period.

This will be an open-label pilot trial to determine whether sirolimus reduces colon polyp burden in Cowden syndrome. Sirolimus will be administered for one year. Colonoscopy with polyp estimation will be performed at trial entrance and at study completion.

Condition Hereditary Neoplastic Syndrome, Polyposis, Multiple hamartoma syndrome, PTEN Hamartoma Syndrome, PTEN Gene Mutation, Hereditary Cancer Syndromes
Treatment Sirolimus
Clinical Study IdentifierNCT04094675
SponsorOhio State University
Last Modified on30 November 2021


Yes No Not Sure

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
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