RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome
Status:
Active, not recruiting
Trial end date:
2021-12-01
Target enrollment:
Participant gender:
Summary
Phosphatase and TENsin homolog (PTEN) gene germline mutations are associated with a spectrum
of clinical manifestations characterized by neurocognitive deficits, intellectual disability,
autism symptomatology, skin lesions, macrocephaly, hamartomatous overgrowth of tissues, and
an increased risk of cancers. Investigators are conducting research to evaluate the potential
safety and efficacy of RAD001 (everolimus) in this patient population, and the potential
neurocognitive benefits from treatment with RAD001 or placebo for a six month period. The
investigators hope this trial will lead to a better understanding of PTEN and to new forms of
treatment that may benefit children and adults with PTEN in the future.
Phase:
Phase 1/Phase 2
Details
Lead Sponsor:
Boston Children's Hospital Boston Children’s Hospital
Collaborators:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) National Center for Advancing Translational Science (NCATS) National Institute of Neurological Disorders and Stroke (NINDS) National Institutes of Health (NIH) Novartis Pharmaceuticals Office of Rare Diseases (ORD) PTEN Research PTEN Research Foundation