motochondrial encephalomyopathy (MELAS)
Conditions
Interventions
Sponsors
Kawasaki Medical School Hospital
National Defense Medical College Hospital Seirei Hamamatsu General Hospital Fujita Health University School of Medicine National Hospital Organization Kyoto Medical Center Hyogo-Chuo National Hospital Fukuoka University Chikushi Hospital Kurume University Hospital Nagasaki University Hospital Hiroshima University Hospital Nippon Medical School National Center of Neurology and Psychiatry Teikyo University of Science
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: (1) patients comprehensively diagnosed with MELAS based on clinical manifestations, muscle pathological findings, and genetic testing, as followed by the diagnostic criteria of MELAS (2) patients with point mutations of either A3243G, T3271C, G3244A, T3258C, or T3291C in the mitochondrial DNA (3) age at the time of obtaining informed consent , gender , hospitalization or outpatient are unquestioned (4) patients not using arginine for 78 weeks before obtaining informed consent, or patients continuously using arginine for at least 26 weeks before obtaining informed consent (5) patients who meet any of the following: 1) patients without arginine use should have stroke-like episodes more than twice in 78 weeks and more than once in 52 weeks before obtaining informed consent (no arginine combination cases ) 2) patients with arginine use who meet any of the following, depending on the period of arginine use (arginine combination cases) If (i) arginine use period within 78 weeks, patients should have stroke-like episodes more than twice in the period of use and at least more than once in 52 weeks before obtaining informed consent If (ii) arginine use period exceeds 78 weeks, patients should have stroke-like episodes more than twice in 78 weeks and at least more than once in 52 weeks before obtaining informed consent The definition of stroke-like episodes in the selection criteria , includes any of the following paroxysmal focal neurological symptoms of 1) ~ 6), and the implementation of the head MRI does not matter . 1) hemiparesis or monoparesis 2) cortical sensory impairment ( sensory extinction ) 3) cortical visual impairment (scintilating scotoma, cortical blindness) 4) aphasia 5) apraxia 6) agnosia (6) patient that has not been treated with oral taurine supplementation (7) patient capable of being evaluated by clinical findings of stroke-like episodes
Exclusion criteria
Exclusion criteria: (1) patients can not be conducted by head MRI scan because of pacemaker implantation, etc. (2) patients with severe coma or status epileptics (3) patients incapable of communication due to dementia, bedridden, etc., (4) patients with merger sepsis (5) patients with severe impairment in cardiac, liver, or renal function (6) patients in need of systemic administration of steroids for a long period of time (2 weeks or more) (7) patients with pyruvate in 12 weeks before obtaining informed consent (8) patients who are pregnant or lactating, or may be pregnant (9) patients with history of hypersensitivity to the component of study drug (10) patients with history of drug allergy (11) patients who participated in clinical trials within 12 weeks before obtaining informed consent (12) other, patients whom physician or investigator has determined disqualified as participants
Design outcomes
Secondary
| Measure | Time frame |
|---|---|
| (1) Japan Mitochondrial Disease Rating Scale (2) 50% responder rate (3) the number of abrupt-onset focal neurological deficits (4) the levels of lactate, pyruvate and taurine in the blood and CSF (5) brain MRI study (6) the number of uses intravenous formulation with L-arginine (7) the number of times in which high intensity lesions detected by brain MRI | — |
Primary
| Measure | Time frame |
|---|---|
| (1) efficacy: 100% respondor rate (2) safety: adverse events and adverse effects | — |
Countries
Japan
Contacts
Public ContactMai Moriyama
CTD inc. Medicinal Products Promotion Division
Outcome results
None listed