Rett Syndrome
Conditions
Keywords
Rett syndrome, EPI-743, Edison
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.
Interventions
DRUGEPI-743
DRUGPlacebo
Sponsors
Edison Pharmaceuticals Inc
Study design
Allocation
RANDOMIZED
Intervention model
PARALLEL
Primary purpose
TREATMENT
Masking
QUADRUPLE (Subject, Caregiver, Investigator, Outcomes Assessor)
Eligibility
Sex/Gender
FEMALE
Age
No minimum to 18 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Rett Syndrome Clinical Severity Sore | Change at six months from baseline | Measure of disease progression |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Head circumference | Change at six months from baseline | — |
| Rett syndrome behavioral questionnaire | Change at six months from baseline | — |
| Oxidative Stress Biomarkers | 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 |
| PedsQL | Change at six months from baseline | — |
Countries
Italy
Outcome results
None listed