Leigh disorders
Conditions
Interventions
sodium pyruvate 0.5g/kg/day TID 48 weeks. We can use sodium pyruvate up to 2.0g/kg/day TID.
Sponsors
Japan Agency of Medical Research and Development
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Leigh disease who fulfilled the following criteria 1)neurological findings (all matched) progressive central neurological sings symptoms suggesting bilateral brain stem abnormality bilateral necrosis of brain stem by MRI 2)defined mitochondrial dysfunction (one of the following ) by repeated abnormality of serum lactate by respiratory chain enzyme activity by muscle pathology by genetic abnormality
Exclusion criteria
Exclusion criteria: 1) patients who is not evaluated by this protocol of the clinical trial 2)severe unconsciousness 3)sepsis 4)renal dysfunction by eGFR lower than 60 mL/min/1.73m2 5)heart failure (EF<40%) 6)status epileptics 7)pregnant 8)allergy against the sodium pyruvate 9)enrolled to the other clinical trial 24 weeks before this trial 10)patient who cannot evaluate the muscle activity by device 11)patients who are not recommended by the doctor
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Safety Total score of section 1 -3, 4 in NMDAS at 48 weeks after oral administration Change of section 1-3,4 at 48 weeks after oral administration Change of the score of section 1, 2, 3, 4 in NMDPS. GDF15 emergency visit lactate lactate in proton MRS mortality period of in-patient during clinical trial | — |
Countries
Japan
Contacts
Public ContactYasutoshi Koga
Kurume University Department of Pediatrics and Child Health
Outcome results
None listed