PTEN Gene Mutation

University of South Florida

Access to Resources for Patients With PTEN Hamartoma Tumor Syndrome

The survey will collect information regarding number of affected children in household, PTEN mutation type of effected children, age and gender of effected children, Age, neurodevelopmental disorders, medical problems, IQ, and access to clinical care (specialists currently being seen, specialists not able to see and why) of most affected child, research methods and mediums for disorder-specific treatment options for affected children, reasons behind not participating in clinical research options, and Facts (gender, age, if PTEN mutation carrier, work status, relationship to affected children, days per week of caregiving responsibilities, education level) about participant completing survey.

Boston Children’s Hospital

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 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

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)

sirolimus 6 mg by mouth loading dose and 2 mg by mouth daily in a 28 day treatment cycle. Patients who do not have cancer take the drug for a total of two cycles (56 days) unless they develop unacceptable side effects. Those who have cancer may continue sirolimus beyond cycle 2 until their disease worsens or they develop unacceptable side effects.

Sirolimus Patients

Sex: Female, Male

Ethnicity (NIH/OMB)

Race (NIH/OMB)

Region of Enrollment

A biochemical change is defined as a decrease in certain protein levels (e.g. P-AKT (phosphorylated AKT), total S6, P-S6, and P-4E-BP1) important in cell growth. These are measured by collecting tissue samples which stained and protein levels are measured under the microscope. Scoring will be based on distribution and intensity of staining. Distribution will be scored as 0 (0%), 1 (1% to 50%), and 2 (51% to 100%) to indicate the percentage of positive cells of interest in a single core. The intensity of the signal will be scored as 1 (weak), 2 (moderate), and 3 (strong). The distribution score and intensity score will be summed into a total score (TS).

Biochemical Changes in Benign and Malignant Tumor Tissues as Assessed by Immunohistochemistry.

Here is the number of participants with adverse events

Number of Participants With Adverse Events

Overall Study

Dr. Arun Rajan

Cowden's Disease

Hamartoma Syndrome, Multiple

Fludeoxyglucose is the radioactive material/compound used as an injection to have a PET scan performed.

fludeoxyglucose F 18

sirolimus 6 mg by mouth loading dose and 2 mg by mouth daily in a 28 day treatment cycle. Patients who do not have cancer take the drug for a total of two cycles (56 days) unless they develop unacceptable side effects. Those who have cancer may continue sirolimus beyond cycle 2 until their disease worsens or they develop unacceptable side effects

sirolimus

This examination involves testing of cerebellar function that controls movement, balance, and coordination.

Clinical Videography

National Institutes of Health Clinical Center, 9000 Rockville Pike

Sirolimus to Treat Cowden Syndrome and Other PTEN Hamartomatous Tumor Syndromes

A Pilot Study of Sirolimus (Rapamycin, Rapamune[Registered Trademark]) in Subjects With Cowden Syndrome or Other Syndromes Characterized by Germline Mutations in PTEN

hamartoma/phosphatase

Access to Resources for Patients With PTEN Hamartoma Tumor Syndrome

RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome

Sirolimus to Treat Cowden Syndrome and Other PTEN Hamartomatous Tumor Syndromes

قاعدة بيانات الأعشاب الطبية الأكثر اكتمالا التي يدعمها العلم