Leigh's encephalomyelopathy
Conditions
Interventions
Oral dosing of the PTC743 solution 100 mg/mL shall be performed along with a meal 3 times a day such that the dosage will be 15 mg/kg per dose (a maximum of 200 mg/dose).
Sponsors
Rance Mark
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1) Patients diagnosed with Leigh's encephalomyelopathy who completed the preceding study and who expressed the desire to continue the treatment with this drug 2) Patients judged by the principal investigator or sub-investigator to show no problems in safety during the preceding study and for whom the treatment may be continued 3) Patients for whom the legal representative was given an adequate explanation of the objectives and details of this study, and the anticipated drug efficacy, pharmacological action, and risks, for whom the understanding of the legal representative was obtained, and for whom the legal representative provided voluntary informed consent in writing; Also, patients from whom voluntary written assent was obtained to the extent that is possible.
Exclusion criteria
Exclusion criteria: 1) Patients with a previous history of allergies to PTC743, sesame oil or sesame 2) Patients with a previous history of allergies to Vitamin E 3) Patients showing a tendency for bleeding at the time point of Visit 9 (Month 6) or showing abnormal values for the prothrombin time (PT) at Visit 9, international normalized ratio (INR), or activated partial thromboplastin time (APTT) and judged by the principal investigator or sub-investigator to be inappropriate for inclusion in this study 4) Patients being treated with an anti-coagulant drug 5) Any other patients judged to be inappropriate for inclusion as a subject in this study by the principal investigator or a sub-investigator
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Safety endpoints: 1) Adverse events and adverse drug reactions 2) 12-lead electrocardiography 3) Clinical laboratory test values and vital signs Efficacy endpoints: 1) Newcastle Pediatric Mitochondrial Disease Scale (NPMDS) 2) Waking oxygen saturation 3) Total number of days of the use of an artificial respirator 4) Total number of days of ICU hospitalization 5) Number of instances of the onset of pneumonia 6) Existence or non-existence of a tracheotomy 7) Death 8) Number of non-prescribed hospital visits 9) Total number of days of hospitalization 10) Weight | — |
Contacts
Public ContactTomoyo Takahashi
CMIC Co., Ltd.
Outcome results
None listed