Last updated on June 2017

RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome (PTEN)


Brief description of study

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.

Detailed Study Description

This is a signal seeking Phase I/II 6-month, randomized, double-blind placebo-controlled trial of RAD001 in children and adolescents, ages 6 to 21 years with a PTEN mutation, with safety and neurocognition as the primary endpoints. Prior to enrolling in the study and undergoing a series of screening tests to confirm eligibility, the participant or a legal guardian will need to sign an informed consent. If determined to be eligible for the treatment phase of the trial, participants will be randomly assigned to take either the study drug or a placebo (pill with no medicine). The study involves about nine visits, six of which will occur at the study site, and three of which will be conducted over the phone. These visits will take place over a six month period. Study visits will vary in length. Baseline, three month and six month visits may last up to 8 hours, while all other visits will be less than 2 hours. The study visits include blood draws, laboratory tests and neuropsychological assessments. The study will also include eye-tracking, the collection of EEG data, and the option to participate in microbiome sample collections. There is no fee to participate in this study. The study drug will be provided at no charge during the study. After the 6 month treatment phase, individuals who were randomly assigned to take placebo will be offered inclusion in a 6 month open label phase where the study drug will be provided at no charge and assessments will continue as they did in the initial 6 month period. After all study data has been analyzed, families will be informed of the overall results. Treatment on this study may or may not improve a child's learning skills (neurocognition). Future patients may benefit from what is learned. Specific Aims /Objectives Primary objective -To evaluate the safety of everolimus (RAD001) compared with placebo in patients with PTEN mutations focusing on NCI CTCAE Grade 3 and 4 adverse events, serious adverse events, and Grade 3 and 4 laboratory toxicities. Secondary objectives -To evaluate the efficacy of everolimus (RAD001) on neurocognition and behavior in children and adolescence with PTEN mutations compared to placebo as measured by standardized, direct and indirect neurocognitive tools and behavioral measures.

Clinical Study Identifier: NCT02991807

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Antonio Hardan, MD

Stanford University
Palo Alto, CA United States
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Mustafa Sahin, MD, PhD

Boston Children's Hospital
Boston, MA United States
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Rabi Hanna, MD

Cleveland Clinic
Cleveland, OH United States
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