mitochondrial hearing loss
Conditions
Interventions
None listed
Sponsors
Tohoku University
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Subjects with an overall confirmed diagnosis of MELAS or MELA (mtDNA 3243 mutation) based on clinical findings, myopathology, and genetic testing according to the diagnostic criteria for MELAS. 2. Subjects diagnosed with mitochondrial deafness 3. Subjects aged between 16 and 59 years at the time of consent 4. Subjects who have given informed written consent. However, if the patient is a minor, the free and voluntary written consent must be obtained from a surrogate.
Exclusion criteria
Exclusion criteria: 1. Subjects with cognitive impairment who, in the opinion of the investigator or sub-investigator, may have difficulty with JMDRS or NMDPS/NMDAS scoring. 2. Subjects with concomitant hearing loss due to causes other than mitochondrial disease 3. Subjects with cochlear implants 4. Subjects with severe hearing loss 5. Subjects on a respirator 6. Subjects with epileptic seizures (convulsions) and severe coma 7. Subjects with septic complications 8. Subjects with renal impairment (estimated glomerular filtration rate eGFR less than 30 mL/min/1.73 m2). 9. Subjects who have participated in other clinical trials within 6 months prior to consent. Other subjects deemed inappropriate by the principal investigator or sub-investigator.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| When subjects attend for routine medical care, their hearing is measured with the ABR test for cerebral auditory response, the ASSR test for auditory steady-state response, standard pure tone audiometry and the DPOAE test for otoacoustic emissions (DPOAE) and is assessed for changes in hearing during the observation period. | — |
Countries
Japan
Contacts
Public ContactTakaaki Abe
Tohoku University Graduate School of Biomedical Engineering Division of Medical Science
Outcome results
None listed