Core Outcome Measures in Effectiveness Trials

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

General Information

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.

Authors:
Koene, S. van Bon, L. Bertini, E. Jimenez-Moreno, C. van der Giessen, L. de Groot, I. McFarland, R. Parikh, S. Rahman, S. Wood, M. Zeman, J. Janssen, A. Smeitink, J.

Publication

Journal:
J Inherit Metab Dis
Volume:
41
Issue:
6
Pages:
1267 - 1273
Year:
2018
DOI:
Further Study Information

Date:
March 2018
Funding source(s):
This workshop was sponsored by Stofwisselkracht, Ride4Kids, Join4Energy and Biking4Energy, the Tjallingh Roorda Foundation and Van der Valk hotel, Vianen, the Netherlands.

Health Area

Disease Category
Genetic disorders

Disease Name
Mitochondrial disorders

Target Population

Age Range
0 - 18

Sex
Either


Nature / type of Intervention
Drug

Method(s)

Delphi process
Semi structured discussion

Stakeholders Involved

Clinical experts
Researchers

Study Type

Recommended outcome measures (measurement)

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