Outcome measures

We aim to select precise and clinically relevant outcome measures to monitor the wellbeing of patients, both children and adults, with mitochondrial disorders. We are both applying existing instruments and designing new instruments in order to characterize the patient’s current status. In the (near) future, we aim to be able to select the most robust instruments to follow the natural disease course in a standardized way and to measure the efficacy of a variety of interventions.

Recent publications

Ramakers R, Koene S, Groothuis JT, de Laat P, Janssen MC, Smeitink J.
Orphanet J Rare Dis. 2017 May 15;12(1):91. doi: 10.1186/s13023-017-0644-y.
 
Koene S, Hendriks JC, Dirks I, de Boer L, de Vries MC, Janssen MC, Smuts I, Fung CW, Wong VC, de Coo IR, Vill K, Stendel C, Klopstock T, Falk MJ, McCormick EM, McFarland R, de Groot IJ, Smeitink JA. J Inherit Metab Dis. 2016 Sep;39(5):705-12. doi: 10.1007/s10545-016-9948-7. Epub 2016 Jun 9. Erratum in: J Inherit Metab Dis. 2017 Feb 13;:. J Inherit Metab Dis. 2017 May;40(3):463.
 
Koene S, Jansen M, Verhaak CM, De Vrueh RL, De Groot IJ, Smeitink JA.
Dev Med Child Neurol. 2013 Aug;55(8):698-706. doi: 10.1111/dmcn.12119. Epub 2013 Mar 12. Review.
 
Koene S, Wortmann SB, de Vries MC, Jonckheere AI, Morava E, de Groot IJ, Smeitink JA.
Mitochondrion. 2013 Jan;13(1):15-24. doi: 10.1016/j.mito.2012.11.002. Epub 2012 Nov 17.
 
Wong SS, Goraj B, Fung CW, Vister J, de Boer L, Koene S, Smeitink J.
Mitochondrion. 2017 Jan;32:36-41. doi: 10.1016/j.mito.2016.11.008. Epub 2016 Nov 16.
 
Koene S, Dirks I, van Mierlo E, de Vries PR, Janssen AJ, Smeitink JA, Bergsma A, Essers H, Meijer K, de Groot IJ. JIMD Rep. 2017 Jan 17. doi: 10.1007/8904_2016_35. [Epub ahead of print]
 
Koene S, Timmermans J, Weijers G, de Laat P, de Korte CL, Smeitink JA, Janssen MC, Kapusta L. J Inherit Metab Dis. 2017 Mar;40(2):247-259. doi: 10.1007/s10545-016-0001-7. Epub 2017 Jan 4.
 
Dirks I, Koene S, Verbruggen R, Smeitink JA, Jansen M, Groot IJ.
Muscle Nerve. 2016 Aug;54(2):232-8. doi: 10.1002/mus.25021. Epub 2016 Jun 13.