Kearns-Sayre-Syndrom
Conditions
Brief summary
International Pediatric Mitochondrial Disease Scale (IPMDS) will be measured at 7 time points (baseline, months 3, 6, 9, 12, 15, and 18). Primary endpoint is the baseline adjusted mean difference between experimental treatment and no-treatment control group after 6 months. Changes between baseline value and the measurements after treatment start at month 6, 12, 18, respectively will also be analysed
Detailed description
Biomarker (5-methyltetrahydrofolate, 5MTHF) concentration in CSF, Regional brain volume, size and extension of white matter alterations and myelination assessed by magnetic resonance imaging (MRI), Concentrations of choline, myo-inositol assessed by 1H magnetic resonance spectroscopy (MRS), Baseline adjusted mean differences between Newcastle Paediatric Mitochondrial Disease Scale (NPMDS)
Interventions
DRUGCALCIUM FOLINATE
Sponsors
Universitaetsmedizin Goettingen
Eligibility
Sex/Gender
All
Age
0 Years to 17 Years
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| International Pediatric Mitochondrial Disease Scale (IPMDS) will be measured at 7 time points (baseline, months 3, 6, 9, 12, 15, and 18). Primary endpoint is the baseline adjusted mean difference between experimental treatment and no-treatment control group after 6 months. Changes between baseline value and the measurements after treatment start at month 6, 12, 18, respectively will also be analysed | — |
Secondary
| Measure | Time frame |
|---|---|
| Biomarker (5-methyltetrahydrofolate, 5MTHF) concentration in CSF, Regional brain volume, size and extension of white matter alterations and myelination assessed by magnetic resonance imaging (MRI), Concentrations of choline, myo-inositol assessed by 1H magnetic resonance spectroscopy (MRS), Baseline adjusted mean differences between Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) | — |
Countries
Germany
Outcome results
None listed