Koene, S;
van Bon, L;
Bertini, E;
Jimenez-Moreno, C;
van der Giessen, L;
de Groot, I;
McFarland, R;
... Smeitink, J; + view all
(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)
pp. 1267-1273.
10.1007/s10545-018-0229-5.
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Abstract
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.
| Type: | Article |
|---|---|
| Title: | Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop |
| Location: | Netherlands |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1007/s10545-018-0229-5 |
| Publisher version: | http://doi.org/10.1007/s10545-018-0229-5 |
| Language: | English |
| Additional information: | Copyright © The Author(s) 2018 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10053116 |
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