Patient Cohorts and Clinical Trials

The collection of clinical, biochemical and genetic information of patients with mitochondrial disease is extremely valuable allowing assessment of disease transmission, severity and progression.

The “National inventory of patients with the m.3243A>G mutation” study, including both symptomatic and asymptomatic carriers of the m.3243A>G mutation (MELAS mutation) is a clinical study being run by doctors experienced in the care of patients with mitochondrial disease at the Radboudumc Nijmegen. This study started in 2010 and is still running.

Recently the ‘’National inventory of patient with a LHON mutation” started, including patients and their maternal relatives with a LHON mutation. The aim of the cohort studies is to convert scientific advances into benefit for patients with mitochondrial disease. In some cases this will be through assisting the set-up of clinical trials (developing outcome measures for mitochondrial disease) or treatments such as exercise or specific drugs. 

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.