Convert scientific advances into benefitsThe 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.
AimsThe aim of the cohort studies is to convert scientific advances into benefits 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.
Related research groups
Research group Outcome measures in mitochondrial disease
Saskia Koene's research group aims to select the most robust outcome measures to follow the health status of patients. Robust outcome measures are essential to monitor the natural disease course and to explore the effect of interventions.read more