A Phase 2 interventional study of Sirolimus in PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome and PTEN Hamartoma Syndrome, sponsored by Ohio State University. Completed at 1 site in United States. Open to participants aged 18 Years to 80 Years. Per ClinicalTrials.gov, last updated 2025-06-10.
Sponsored by Ohio State University · Phase 2, Interventional, and Treatment
Among 13 studies in Hamartoma Syndrome, Multiple with a site in United States — 3 open to participants now, 5 under way, 1 of them phase 3. Hamartoma Syndrome, Multiple · United States.
Among the 13 studies in Hamartoma Syndrome, Multiple with a site in United States, this one is the only one that started in 2019, is one of 2 in phase 2, and was the 8th registered.
21 studies on the registry are indexed under Hamartoma Syndrome, Multiple; 9 are open to participants now.
This study's enrollment of 5 is below the median of 52 across 10 interventional studies indexed under Hamartoma Syndrome, Multiple.
Browse Hamartoma Syndrome, Multiple studies →3 of the 13 studies in Hamartoma Syndrome, Multiple with a site in United States are open now, in 8 countries. Each count lists the studies.
Of the 8 Hamartoma Syndrome, Multiple studies recruiting now, 6 (75%) set no upper age limit and 1 (13%) stop at 75 or younger; 3 take children under 18; 3 take healthy volunteers.
This study: 18 Years to 80 Years · all sexes · no healthy volunteers.
The full table on the hub →13 studies; the count open now beside each. This study's row is marked.
First in 2002; this study’s year is marked. 1 started in 2019.
Median enrollment 52 across the 8 interventional studies, 377 across the 5 observational. Of the 7 that completed or were terminated, 2 (29%) have results posted.
2 of 13 have an industry lead sponsor. The 9 most frequent:
Ohio State University is the lead sponsor of 663 studies on the registry; 148 are open to participants now.
Of its 67 completed or terminated interventional studies of FDA-regulated products, 49 (73%) have results posted.
Ohio State University has 1 study filed under Hamartoma Syndrome, Multiple — fewer than ten, so there is no comparison to draw.
2 of the studies in Hamartoma Syndrome, Multiple with a site in United States that are under way reach primary completion within a year, 0 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT06139172Rush University Medical CenterWeb Intervention for Parents of Youth With Genetic Syndromes (WINGS) | 2026-12 |
| NCT06888388Sir Mortimer B. Davis - Jewish General HospitalLong-term Safety of Nipple Sparing Mastectomy in Women With High Penetrance Breast Cancer Susceptibility Genes in Breast Cancer | 2027-02-01 |
Among the 13 studies in Hamartoma Syndrome, Multiple with a site in United States, from their registry updates:
Nothing recorded among them since 2026-09-25.
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.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
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.
Drug: Sirolimus
Use of sirolimus 2 mg by mouth daily for 1 year
Also known as: Rapamycin, Rapamune
Change in colon polyp burden by number
Assessment of change in number of colon polyps. This will be assessed for each segment of colon (ascending, transverse, descending, sigmoid, rectum) and then aggregated into a total number of colon polyps. The entrance result will be compared to the final result for each participant.
Time frame: 1 year
Change in colon polyp burden by staging
Assessment of change in staging of colon polyps by using the International Society for Gastrointestinal Hereditary Tumors (InSIGHT) polyposis staging system. The InSight staging system divides colorectal polyposis into 5 progressive stages based on polyp number and size (Stage 0: \<20 polyps, all \<5 mm; Stage 1: 20-200 polyps, most \<5 mm, none, \>1 cm; Stage 2: 200-500 polyps, \<10 that are \>1 cm; Stage 3: 500-1000 polyps or any number if there are 10-50 that are \>1 cm and amenable to complete polypectomy; Stage 4: \>1000 polyps and/or any polyps grown to confluence and not amenable to simple polypectomy; any high-grade dysplasia or invasive cancer). The entrance result will be compared to the final result for each participant.
Time frame: 1 year
Change in well-being assessment
Assessment in change in overall health and quality of life as quantified by the SF-36 (Short Form) Health Survey. The SF-36 is a widely-used and standardized survey of participant responses to 36 questions that measures health-related quality of life. Each question has answers that are given a correlating score from 0 to 100, with a high score representing a more favorable health state. Through the combination of specific questions and averaging the scores, there are 8 scales (physical functioning, role limitations due to physical health, role limitations due to emotional problems, vitality, mental health, social functioning, bodily pain, and general health) that are reported with scores from 0 to 100, with a high score representing a more favorable health state. These can also be averaged into a physical component summary score and mental component summary score that is again from 0 to 100, with a high score representing a more favorable health state.
Time frame: 1 year
PDFs hosted by the registry, ClinicalTrials.gov.
Plan to share: No
Ran from Sep 2019 to primary completion in Feb 2025, 64 months.
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This study is completed, as verified in Jun 2025. You cannot join it, but the record below documents what was studied.
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Studies of the drug tested here: Sirolimus
Hamartoma Syndrome, Multiple →