RAD001 is formulated as tablets of 5.0 mg or 2.5mg strength, blister-packed under aluminum foil in units of 10 tablets and dosed on a regular basis.

Matching placebo will be provided as a matching tablet and will also be blister packed under aluminum foil in units of 10.

PTEN Gene Mutation

PTEN Hamartoma Tumor Syndrome

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.

RAD001

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.

Placebo

Stanford University

Boston Children's Hospital

Cleveland Clinic

RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome

A Randomized Double-Blind Controlled Trial of Everolimus in Individuals With PTEN Mutations (RAD001XUS257T)

The primary endpoint will be safety as measured by study drop-out rate due to side effects, comparing everolimus vs. placebo. We will also determine the frequency of adverse events by type and severity.

Working memory will be evaluated using the Stanford Binet 5 or Mullen Scales of Early Learning at 6 months

Processing speed will be evaluated using mean reaction time on the Conner's Continuous Performance Test (CPT)-3.

Fine motor skills will be evaluated using the Purdue Pegboard sub-tests average of both hands

Attention will be measured by Conners' Continuous Performance Test - 3 - Discriminability index (d') and Omissions

Impulsivity will be measured by Conners' Continuous Performance Test-3- Commissions and Bias (B').

Change in global cognitive ability will be measured by Stanford-Binet 5 or Mullen; Full scale, verbal and nonverbal ability (IQ)

Motor functioning will be measured by the Purdue Pegboard (Pegs): Dominant and non-dominant hand combined standard scores and Developmental Coordination Disorder Questionnaire (DCDQ): Total score.

Communication ability will be measured by using standard scores of the Peabody Picture Vocabulary Test (PPVT-4), Expressive Vocabulary Test (EVT-2)

Data will be shared with the National Database of Autism Research (NDAR)

Mustafa Sahin

Director, Translational Neuroscience Center/ Professor of Neurology, Harvard Medical School

Boston Children’s Hospital

National Institutes of Health (NIH)

National Institute of Neurological Disorders and Stroke (NINDS)

Office of Rare Diseases (ORD)

National Center for Advancing Translational Science (NCATS)

Novartis Pharmaceuticals

PTEN Research

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

blinded and randomized 100 mg L1-79 t.i.d.

blinded and randomized 200 mg L1-79 t.i.d.

Autism

L1-79

Eric Bartky MD, Bartky Health Care Center

F. Peter Halas MD, Sea Girt Pediatrics

Safety of L1-79 in Autism

A Phase 2 Safety Study of L1-79 for the Treatment of Autism

Adverse events will be solicited over 56 days from the start of treatment

The attending physicians assessment as quantified by the Clinical Global Impressions Scale completed at baseline and weekly through 56 days of treatment and follow-up.

Changes from baseline in Communication and Socialization domain of Vineland Adaptive Behavior Scale 2nd edition (VABS II)

Changes from baseline in the Autism Diagnostic Observation Schedule (ADOS) total and domain scores.

Weekly Changes from baseline in the Aberrant Behavior Checklist-Community (ABC-C) domains of irritability, social withdrawal and lethargy, hyperactivity, inappropriate speech and stereotypical behavior.

Weekly changes from baseline in overall and subdomains of the Social Responsiveness Scale (SRS).

Weekly changes from baseline in the overall and subdomains of the Repetitive Behavior Scale - Revised (RBS-R).

Blood will be collected from assigned patients in each dose group at baseline visit one hour after dose and again at each clinic visit at random times after dose for determination of L1-79 concentrations

autism/phosphatase

RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome

Safety of L1-79 in Autism

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