RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome

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.

Conditions

• PTEN Gene Mutation
• PTEN Hamartoma Tumor Syndrome

Interventions

DRUG

RAD001

RAD001 is formulated as tablets of 5.0 mg strength, blister-packed under aluminum foil in units of 10 tablets and dosed on a regular basis. RAD001 tablets should be opened only at the time of administration as drug is both hygroscopic and light-sensitive. Patients will be instructed to take 4.5 mg/m2 of RAD001 orally with a glass of water at regular intervals at the same time (delete: each day) in the morning after a light, nonfat breakfast.

DRUG

Placebo

Matching placebo will be provided as a matching tablet and will also be blister packed under aluminum foil in units of 10. Matching placebo tablets should be opened only at the time of administration as drug is both hygroscopic and light-sensitive. Patients will be instructed to take 4.5 mg/m2 of the matching placebo orally with a glass of water at regular intervals at the same time (delete: each day) in the morning after a light, nonfat breakfast.

Sponsors & Collaborators

• National Institutes of Health (NIH)

  collaborator NIH

• National Institute of Neurological Disorders and Stroke (NINDS)

  collaborator NIH

• Office of Rare Diseases (ORD)

  collaborator NIH

• National Center for Advancing Translational Sciences (NCATS)

  collaborator NIH

• Novartis Pharmaceuticals

  collaborator INDUSTRY

• PTEN Research

  collaborator UNKNOWN

• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

  collaborator NIH

• Boston Children's Hospital

  lead OTHER

Principal Investigators

• Mustafa Sahin, MD, PhD · Boston Children's Hospital

Study Design

Allocation

RANDOMIZED

Purpose

TREATMENT

Masking

TRIPLE

Model

PARALLEL

Eligibility

Min Age

5 Years

Max Age

45 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2017-06-12

Primary Completion

2021-02-18

Completion

2021-12-22

FDA Drug

Yes

Countries

• United States

Study Locations