Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop

Saskia Koene, Lara van Bon, Enrico Bertini, Cecilia Jimenez-Moreno, Lianne van der Giessen, Imelda de Groot, Robert McFarland, Sumit Parikh, Shamima Rahman, Michelle Wood, Jiri Zeman, Anjo Janssen, Jan Smeitink

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
JournalJournal of Inherited Metabolic Disease
DOIs
Publication statusE-pub ahead of print - Jul 19 2018

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