Phase 2 Study of EPI-743 for Treatment of Rett Syndrome
- Registration Number
- NCT01822249
- Lead Sponsor
- Edison Pharmaceuticals Inc
- Brief Summary
Rett syndrome is a severe neurodevelopmental disorder that primarily affects female children. Rett syndrome is characterized by significant elevation in blood markers of oxidative stress. EPI-743 is a novel therapeutic with demonstrated efficacy and safety in the treatment of disorders characterized by oxidative stress. The purpose of this study is to examine the safety and efficacy of EPI-743 in a population of children with Rett syndrome.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- Female
- Target Recruitment
- 24
Inclusion Criteria
- Diagnosis of Rett syndrome with disease stage 1-2
- Abnormality of at least two disease biomarker levels
- Confirmed MeCP2 mutation
- Patient or patient's guardian able to consent and comply with protocol requirements
- Abstention from use of Coenzyme Q10, vitamin E and Idebenone two weeks prior to enrollment into the study
Exclusion Criteria
- Any condition, which in the opinion of the investigator could compromise the subject's safety or adherence to treatment with EPI-743.
- Clinically significant allergy or hypersensitivity to EPI-743 or to any of the excipients of with EPI-743 (eg., sesame oil).
- Clinically significant allergy or hypersensitivity to Vitamin E
- Lack of confirmation of MeCP2 mutation
- Clinical history of bleeding or abnormal baseline PT/PTT
- Diagnosis of any other concurrent inborn error of metabolism
- Hepatic insufficiency with LFTs greater than 3 times upper limit of normal
- Renal insufficiency requiring dialysis
- End stage cardiac failure
- Fat malabsorption syndromes precluding drug absorption
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- PARALLEL
- Arm && Interventions
Group Intervention Description Placebo Placebo Subjects in this arm will receive placebo at a volume equivalent to the volume of EPI-743 they would receive if in active group based on their weight EPI-743 15 mg/kg EPI-743 Subjects in this arm will receive EPI-743 at a dose of 15 mg/kg three times daily
- Primary Outcome Measures
Name Time Method Rett Syndrome Clinical Severity Sore Change at six months from baseline Measure of disease progression
- Secondary Outcome Measures
Name Time Method Head circumference Change at six months from baseline Oxidative Stress Biomarkers Change at six months from baseline Rett syndrome behavioral questionnaire Change at six months from baseline PedsQL Change at six months from baseline Number of Drug-related adverse and serious adverse events Six months Respiratory Disturbance Index (RDI) Change at six months from baseline RDI will be determined on polysomnography study
Trial Locations
- Locations (1)
University of Siena
🇮🇹Siena, Italy