RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome (NCT02991807) | Clinical Trial Compass
CompletedPhase 1/2
RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome
United States46 participantsStarted 2017-06-12
Plain-language 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.
Who can participate
Age range5 Years – 45 Years
SexALL
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Inclusion criteria
✓. Male and female outpatients between 5 and 45 years of age (inclusive);
✓. Pathogenic PTEN mutation confirmed by clinical genetic testing;
✓. Participant must be able to complete one of the following three standardized assessments: Conners' Continuous Performance Tasks (CPT-3-mean reaction time), Stanford Binet (SB-5; working memory), or the Purdue Pegboard Test;
✓. Performance below the age-adjusted population mean on at least one of the above standardized measure: attention (CPT-3, mean reaction time), working memory (SB5), or fine motor skills (Purdue Pegboard Test; either dominant hand, non-dominant hand, or both hands);
✓. Adequate bone marrow function as shown by:
✓. platelets ≥ 80,000/mm3
✓. absolute neutrophil count ≥ 1,000/mm3
✓. hemoglobin ≥ 9 g/dL
Exclusion criteria
✕. Patients currently receiving anticancer therapies or who have received anticancer therapies within 4 weeks of the start of Everolimus (including chemotherapy, radiation therapy, antibody based therapy, etc.);
What they're measuring
1
Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability], Dropout
Timeframe: Through study completion, an average of 6 months
2
Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability], Adverse Events (AEs) Overview (% of Participants)
Timeframe: Through study completion, an average of 6 months
✕. Known intolerance or hypersensitivity to Everolimus or other rapamycin analogs (e.g. sirolimus, temsirolimus);
✕. Known impairment of gastrointestinal (GI) function or GI disease that may significantly alter the absorption of oral Everolimus;
✕. Uncontrolled diabetes mellitus as defined by HbA1c \>8% despite adequate therapy. Patients with a known history of impaired fasting glucose or diabetes mellitus (DM) may be included, however blood glucose and antidiabetic treatment must be monitored closely throughout the trial and adjusted as necessary;
✕. Patient with uncontrolled hyperlipidemia: fasting serum cholesterol \> 300 mg/dL OR \>7.75 mmol/L AND fasting triglycerides \> 2.5 x ULN.
✕. Patients who have any severe and/or uncontrolled medical or psychiatric conditions (see section 4.6 for additional details)
✕. Chronic treatment with corticosteroids or other immunosuppressive agents. Topical or inhaled corticosteroids are allowed;
✕. Known history of or seropositivity for Hepatitis B, Hepatitis C, or HIV;