Clinical aspects of mitochondrial disorders

Clinical research coordinator: Dr Saskia Koene

The common goal of the members of the clinical research team is to make substantial contributions to the well being of the patients we care for. As such, members of the team are involved in improving awareness for mitochondrial disease, optimizing diagnostics, developing diagnostic guidelines, long term follow up of patient cohorts, developing and validating clinically relevant outcome measures as well as prognostic scores and biomarkers, the evaluation of commonly used medications and anesthesia in relation to mitochondrial function, and drug development and clinical intervention studies. Beside the projects focusing on patients with mitochondrial disease, we are exploring the modifying role of mitochondrial dysfunction in the relationship between inactivity and chronic disease and in the consequences of certain predispositions, life styles and environmental factors on the risk of developing diseases later in life. The clinical aspects theme consists of eight highly interactive subthemes with strong bounds with both the structure-function and the cellular consequences themes as well as national and international mitochondrial clinical expertcenters.

Clinical Aspects: research groups

 Psychological Aspects of  Mitochondrial Diseases  

 Dr. Chris Verhaak

 Pediatric Rehabilitation

 Dr. Imelda de Groot 


 Prof. Maria Hopman

 Outcome Measures

 Dr. Saskia Koene


 Prof. Cees Tack


 Drug efficacy and safety 

 Prof. Frans Russel

Causes, consequences and intervention 

 Prof. Jan Smeitink

Patient cohorts  and Clinical Trials

 Dr. Mirian Janssen