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Double-Blind Trial of Everolimus for Improving Social Abilities in PTEN Germline Mutations

NCT07218575 · Status: NOT_YET_RECRUITING · Phase: PHASE2/PHASE3 · Type: INTERVENTIONAL · Enrollment: 60

Last updated 2025-10-20

No results posted yet for this study

Summary

The goal of this study is to examine the safety and treatment effects of everolimus in adults and children with PTEN Hamartoma Tumor Syndrome (PHTS) who experience social difficulties. The study will measure if everolimus can safely improve social abilities and functioning in this study population.

PTEN Hamartoma Tumor Syndrome (PHTS) is a genetic condition that results from alteration (germline variant) to the PTEN gene. It is associated with a wide range of symptoms and characteristics, which vary from individual to individual. These include symptoms such as harmatomas (non-cancerous lesions), an increased risk of certain types of cancer, having a larger than average head, and abnormalities in blood vessels. Some people also have neurobehavioral problems including social difficulties. It is estimated approximately 25% (1 in 4) of people with PHTS meet the criteria for an autism diagnosis.

The study lasts for one year. In the first 6 months half of participants will receive everolimus as a once daily oral tablet, and half will receive placebo tablets. For the second 6 months all participants will receive everolimus. Visits to the study clinic are required at the start, month 3, month 6, month 9 and month 12, with phone calls or virtual visits in between. Assessments include questionnaires, blood tests and urine tests, physical and neurological exams, and vital signs.

Everolimus is an existing FDA approved medication used to treat other conditions, including a genetic condition called tuberous sclerosis complex which has some similarities to PHTS, and several types of cancer.

Conditions

  • Cowden's Disease
  • Cowden's Syndrome
  • Lhermitte-Duclos Disease
  • Cerebellum Dysplastic Gangliocytoma
  • Bannayan Zonana Syndrome
  • Myhre Riley Smith Syndrome
  • Riley Smith Syndrome
  • PTEN Hamartoma Tumor Syndrome
  • Bannayan Riley Ruvalcaba Syndrome

Interventions

DRUG

Everolimus blinded oral capsules

Oral capsules given once daily for the first 6 months

DRUG

Placebo

Oral capsules given once daily for the first 6 months

Sponsors & Collaborators

Study Design

Allocation
RANDOMIZED
Purpose
TREATMENT
Masking
QUADRUPLE
Model
PARALLEL

Eligibility

Min Age
5 Years
Max Age
45 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2026-04-30
Primary Completion
2030-04-30
Completion
2030-04-30
FDA Drug
Yes

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07218575 on ClinicalTrials.gov