A Phase 1/2 interventional study of Sirolimus and Placebo in PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome and PTEN Hamartoma Syndrome, sponsored by Stanford University. Withdrawn at 3 sites in United States. Open to participants aged 5 Years to 45 Years. Per ClinicalTrials.gov, last updated 2024-07-10.
Sponsored by Stanford University · Phase 1/2, 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 2024, is one of 3 in phase 1/2, and was the 10th registered.
21 studies on the registry are indexed under Hamartoma Syndrome, Multiple; 9 are open to participants now.
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: 5 Years to 45 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 2024.
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:
Stanford University is the lead sponsor of 2,168 studies on the registry; 431 are open to participants now.
Of its 267 completed or terminated interventional studies of FDA-regulated products, 207 (78%) have results posted.
Stanford 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.
The goal of this study is to examine the safety and treatment effects of sirolimus for targeting social communication deficits in people with genetic disorders associated with PTEN germline mutations, which are often referred to as PTEN Harmartoma Tumor Syndrome (PHTS). The mechanism of sirolimus in the body has shown promise for helping to improve social communication skills in case reports of people with PHTS. Everolimus, a closely related compound, also showed benefits in social communication skills in a previous pilot trial in people with PHTS. This is a 6 month double-blind trial followed by at 6 month open label extension trial.
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:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Two enzymes measured in a routine blood test of the liver. Higher levels can mean the liver is under strain or damaged. SGPT and SGOT are older names for ALT and AST.
Criteria usually give a limit as a multiple of the upper limit of normal (ULN), often higher when cancer has spread to the liver.
The number of neutrophils, white blood cells that help fight infection, in a given amount of blood. Too few raises the risk of infection.
It is a count, not a percentage of the white cells. Limits are written in units that mean the same: ≥ 1.5 × 10⁹/L is ≥ 1,500 per mm³ (µL). Each lab has its own reference range.
Blood cells that help blood clot. Too few raises the risk of bleeding and bruising. A usual adult range is about 150–400 × 10⁹/L (150,000–400,000 per µL); each lab has its own reference range.
GFR (glomerular filtration rate) is how much blood the kidneys filter each minute. It is usually estimated from a blood test — eGFR, by formulas such as CKD-EPI or MDRD — and some studies ask for it to be measured directly instead. Usually given in mL/min/1.73 m².
Check the method, the units and the minimum the study states. A value of 90 or above is in the normal-or-high range, but kidney damage can show in other tests too.
Able to become pregnant: from the first period until menopause, unless permanently unable to through surgery (removal of the womb, or of both ovaries or both fallopian tubes).
Criteria for people of childbearing potential usually ask for a negative pregnancy test and for contraception during the study and for a time after it.
Ways of preventing pregnancy. “Highly effective” methods fail less than 1% of the time a year when used correctly — for example an IUD or an implant.
Criteria usually say which methods count and how long to keep using them after the last dose, sometimes for male participants too. Some studies accept a partner’s vasectomy if it was confirmed successful and that person is the participant’s only sexual partner.
CYP3A is a group of enzymes, mainly CYP3A4, in the liver and gut that break down many medicines. Some medicines, supplements and foods (grapefruit, St John’s wort) slow them down or speed them up, which changes how much of a study drug stays in the body.
Studies list them so they can be avoided or switched; bring a list of everything you take, including supplements.
ALT and AST (liver enzymes)
Two enzymes measured in a routine blood test of the liver. Higher levels can mean the liver is under strain or damaged. SGPT and SGOT are older names for ALT and AST.
Criteria usually give a limit as a multiple of the upper limit of normal (ULN), often higher when cancer has spread to the liver.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Absolute neutrophil count (ANC)
The number of neutrophils, white blood cells that help fight infection, in a given amount of blood. Too few raises the risk of infection.
It is a count, not a percentage of the white cells. Limits are written in units that mean the same: ≥ 1.5 × 10⁹/L is ≥ 1,500 per mm³ (µL). Each lab has its own reference range.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Platelets
Blood cells that help blood clot. Too few raises the risk of bleeding and bruising. A usual adult range is about 150–400 × 10⁹/L (150,000–400,000 per µL); each lab has its own reference range.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
GFR and eGFR (kidney filtering)
GFR (glomerular filtration rate) is how much blood the kidneys filter each minute. It is usually estimated from a blood test — eGFR, by formulas such as CKD-EPI or MDRD — and some studies ask for it to be measured directly instead. Usually given in mL/min/1.73 m².
Check the method, the units and the minimum the study states. A value of 90 or above is in the normal-or-high range, but kidney damage can show in other tests too.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Childbearing potential
Able to become pregnant: from the first period until menopause, unless permanently unable to through surgery (removal of the womb, or of both ovaries or both fallopian tubes).
Criteria for people of childbearing potential usually ask for a negative pregnancy test and for contraception during the study and for a time after it.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Contraception
Ways of preventing pregnancy. “Highly effective” methods fail less than 1% of the time a year when used correctly — for example an IUD or an implant.
Criteria usually say which methods count and how long to keep using them after the last dose, sometimes for male participants too. Some studies accept a partner’s vasectomy if it was confirmed successful and that person is the participant’s only sexual partner.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
CYP3A (CYP3A4) inhibitors and inducers
CYP3A is a group of enzymes, mainly CYP3A4, in the liver and gut that break down many medicines. Some medicines, supplements and foods (grapefruit, St John’s wort) slow them down or speed them up, which changes how much of a study drug stays in the body.
Studies list them so they can be avoided or switched; bring a list of everything you take, including supplements.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Participants that are 5 to 12.99 years old will start at 1 mg/m2/dose. Participants that are 13 to 45.99 years old and \< 39.99 kg in weight will also start on 1 mg/day. Participants that are 13 to 45.99 years old and \> 40 kg in weight will start on 2 mg/day. The target blood level will be 5-15 ng/ml with dose adjustment based on sirolimus levels obtained every 2 to 3 weeks after every dose change.
Drug: Sirolimus
matching placebo
Drug: Placebo
Experimental: Sirolimus Participants that are 5 to 12.99 years old will start at 1 mg/m2/dose. Participants that are 13 to 45.99 years old and \< 39.99 kg in weight will also start on 1 mg/day. Participants that are 13 to 45.99 years old and \> 40 kg in weight will start on 2 mg/day. The target blood level will be 5-15 ng/ml with dose adjustment based on clinical labs of sirolimus levels. The target blood level will be 5-15 ng/ml with dose adjustment based on sirolimus levels obtained every 2 to 3 weeks after every dose change.
Also known as: Rapamune
matching placebo
Change from baseline in parent rated Social Responsiveness Scale, Second Edition Total Scores (SRS-2) total scores during treatment.
Time frame: Month 1, Month 2, Month 3, Month 4, Month 5, Month 6
Clinical Global Impression Improvement (CGI-I) Scale changes during treatment.
Time frame: Month 1, Month 2, Month 3, Month 4, Month 5, Month 6
Change from baseline on parent rated Stanford Social Dimensions Scale (SSDS)
Time frame: Month 1, Month 2, Month 3, Month 4, Month 5, Month 6
Change from baseline on Brief Observation of Social Communication Change (BOSCC)
Time frame: Month 6
Change from baseline on Neurobehavioral Evaluation Tool (NET) Social Communication and Interaction subscale
Time frame: Month 3, Month 6
Change from baseline on the Reading the Mind in the Eyes Test (RMET)
Time frame: Month 6
Change from baseline on Purdue Pegboard (PP) Test
Time frame: Month 6
Change from baseline on parent rated Dimensional Assessment of Restricted/Repetitive Behaviors (DARB)
Time frame: Month 3, Month 6
Change from baseline on Vineland Adaptive Behavior Scales (VABS-III)
Time frame: Month 3, Month 6
Change from baseline on Wide Range Assessment of Memory and Learning-2 (WRAML-2)
Time frame: Month 6
Change from baseline on Clinical Global Impression Improvement (CGI-I) Scale changes during treatment.
Time frame: Month 1, Month 2, Month 3, Month 4, Month 5, Month 6
Change from baseline on parent reported Child or Adult Behavioral Checklist
Time frame: Month 3, Month 6
Change from baseline on complete blood count (CBC) with differential as measured by peripheral blood
Time frame: Month 1, Month 3, Month 5, Month 6
Change from baseline on comprehensive metabolic panel as measured by peripheral blood
Time frame: Month 1, Month 3, Month 5, Month 6
Change from baseline on lipid profile as measured by peripheral blood.
Time frame: Month 1, Month 3, Month 5, Month 6
Plan to share: Yes — Data will be on the National Institute of Mental Health Data Archive (NDA).
Time frame: shared twice per year
Data sharing details ↗ · nda.nih.gov
No publications or documents are linked to this record.
Start is estimated for Jul 2024; primary completion for Jun 2028, 47 months later.
How these figures are worked out, and which studies are left out of them.
This study is withdrawn, as verified in Jul 2024. 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 →