Leigh Disease MedDRA version: 14.1 Level: SOC Classification code 10027433 Term: Metabolism and nutrition disorders System Organ Class: 10027433 - Metabolism and nutrition disorders
Conditions
Interventions
Product Name: EPI-743
Product Code: NA
Pharmaceutical Form: Oral solution
Other descriptive name: alpha-tocotrienol quinone
Concentration unit: g gram(s)
Concentration type: equal
Concentration number
Sponsors
EDISON PHARMACEUTICALS INC.
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Subjects with Diagnosis of Leigh syndrome who has previously received EPI-743 and continues to receive benefit from the use of EPI-743 2. Patient or parent’s or legal representative(s) able to consent and comply with protocol requirements 3. Subject (where appropriate, depending on age) and their parent(s) or legal representative(s) who have voluntarily signed the Informed Consent/Assent Form (ICF). Children will be informed about the program and asked to give assent (where appropriate, depending on age). Are the trial subjects under 18? yes Number of subjects for this age range: 10 F.1.2 Adults (18-64 years) no F.1.2.1 Number of subjects for this age range F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range
Exclusion criteria
Exclusion criteria: 1. Any condition, which in the opinion of the investigator could compromise the subject’s safety or adherence to treatment with EPI-743. 2. Previously demonstrated clinically significant allergy or hypersensitivity to with EPI-743 or to any of the excipients of with EPI-743 (eg., sesame oil).
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: To evaluate the maintenance of the efficacy of EPI-743 in patients with Leigh syndrome, who previously received EPI-743 and who continue to benefit from the use of EPI-743, on disease severity as assessed by combined scores of the Newcastle Pediatric Mitochondrial Disease Scale (NPMDS) sections 1-3.;Secondary Objective: To evaluate the maintenance of the efficacy of EPI-743 in patients with Leigh syndrome, who previously received EPI-743 and who continue to benefit from the use of EPI-743, on: 1.Neuromuscular function 2.Respiratory function 3.Disease morbidity and mortality To evaluate the long-term safety of EPI-743 in patients with Leigh syndrome who previously received EPI-743.;Primary end point(s): Change from baseline to end of treatment (Week 144, V18) in combined score of sections 1-3 of the Newcastle Pediatric Mitochondrial Disease Scale;Timepoint(s) of evaluation of this end point: Every year for three years | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): -Change from baseline to end of treatment (Week 144, V18) in: 1. Scores of Movement Disorders-Childhood rating Scale and Gross Motor Function Measure for the neuromuscular function 2. Scores of Sleep Questionnaire for respiratory function 3. Mortality for disease morbidity and mortality 4. HRQOL score from section 4 of the Newcastle Pediatric Mitochondrial Disease Scale for disease morbidity and mortality 5. Glutathione cycle biomarkers -Safety will be evaluated by physical examinations, vital signs assessments, 12-lead electrocardiograms, routine clinical laboratory tests and adverse event assessments over the 144 weeks of study treatment.;Timepoint(s) of evaluation of this end point: Every two month | — |
Countries
Italy
Contacts
Public ContactProject Management
OPBG C&RS Services
Outcome results
None listed