2018-07-29
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop
Publication
Publication
Journal of Inherited Metabolic Disease , Volume 41 - Issue 6 p. 1267- 1273
Although there are no effective disease-modifying therapies for mitochondrial diseases, an increasing number of trials are being conducted in this rare disease group. The use of sensitive and valid endpoints is essential to test the effectiveness of potential treatments. There is no consensus on which outcome measures to use in children with mitochondrial disease. The aims of this two-day Delphi-based workshop were to (i) define the protocol for an international, multi-centre natural history study in children with mitochondrial myopathy and (ii) to select appropriate outcome measures for a validation study in children with mitochondrial encephalopathy. We suggest two sets of outcome measures for a natural history study in children with mitochondrial myopathy and for a proposed validation study in children with mitochondrial encephalopathy.
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| doi.org/10.1007/s10545-018-0229-5, hdl.handle.net/1765/128361 | |
| Journal of Inherited Metabolic Disease | |
| Organisation | Department of Pediatrics |
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Koene, S, van Bon, L., Bertini, E, Jimenez-Moreno, C., van der Giessen, L., de Groot, I., … Smeitink, J. (2018). Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop. Journal of Inherited Metabolic Disease, 41(6), 1267–1273. doi:10.1007/s10545-018-0229-5 |
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