Autism Spectrum Disorder
Conditions
Keywords
Autism, Mitochondrial Disorders, EPI-743, EPI743, Rett syndrome, Angelman syndrome
Brief summary
The investigators hypothesize that EPI-743 may provide clinical benefit to children with Autism Spectrum Disorder.
Detailed description
An Exploratory Open Label Phase 2 Study of EPI-743 (Vincerinone TM) in Children with Autism Spectrum Disorder
Interventions
DRUGEPI-743
Sponsors
Edison Pharmaceuticals Inc
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
3 Years to 14 Years
Healthy volunteers
No
Inclusion criteria
1. Diagnosis of Autism Spectrum Disorder as defined by the DSM-V criteria for ASD and a gold-standard diagnostic evaluation for ASD such as the Autism Diagnostic Observation Schedule (ADOS) and/or the Autism Diagnostic Interview - Revised (ADI-R) 2. Male or female, 3 years to 14 years of age 3. Abnormal glutathione cycle biomarkers (GSH/GSSG in plasma\<8.0) 4. Language impairment (as defined by the CELF-2 or CELF-4 screener) 5. Ability to complete language assessment (using either CELF or PLS) 6. Subject or subject's guardian able to consent and comply with protocol requirements 7. Abstention from use of Coenzyme Q10, vitamin E, lipoic acid, folinic acid, other forms of folic acid above recommended daily allowance (RDA), and idebenone 2 months prior to treatment with EPI-743 and for duration of study 8. Stable regimen of medication and supplements for 2 months prior to enrollment and duration of the study
Exclusion criteria
1. Allergy to EPI-743 or sesame oil 2. Allergy to vitamin E 3. Clinical history of bleeding or abnormal baseline PT/PTT 4. Use of anticoagulant medications 5. Participation in any other interventional study within 90 days of treatment. 6. Use of antipsychotic medications 7. Moderate to severe positive response on ABC irritability subscale on questions: Injures self on purpose, is aggressive to other children or adults (verbally or physically), deliberately hurts himself/ herself, and/or does physical violence to self 8. Severe impairment as defined as a Vineland Adaptive Behavioral Scales composite standard score of \<40 9. Patients with genetic disease that gives rise to ASD (e.g. Rett syndrome, Down syndrome, fragile x syndrome) 10. Abnormal liver function tests two times the upper limit of normal or renal insufficiency with creatinine levels two times the upper limit of normal
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Primary Efficacy | 6 months | Change in plasma levels of reduced and oxidized glutathione from baseline to six months |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Secondary Endpoint | 6 months | Change in language skills as assessed by change from baseline to six months on the Clinical Evaluation of Language Fundamentals or Preschool Language Scale |
| Safety Endpoint | 8 months | To examine the safety of EPI-743 in subjects with Autism Spectrum Disorder by examining drug-related adverse and serious adverse events |
Outcome results
None listed