People Saskia Koene

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Saskia Koene MD PhD

+31 (0)24 36 16873
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Saskia Koene postdoc

Saskia is a clinical pharmacologist with a special focus on rare disease clinical trials. She is the coordinator of the clinical research within the Radboud Centre for Mitochondrial Medicine (RCMM).

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Saskia Koene postdoc

Mitochondrial diseases belong to the most frequently encountered inborn errors of metabolism (1:5000 live births). Disturbances in cellular energy production frequently present with a multi-system disorder affecting organs with a high energy demand like brain, heart and skeletal muscle. No cure is available for mitochondrial disease and managing of these patients is limited to preventing complications, minimizing disability and providing genetic counseling. I am a clinical pharmacologist with a special focus on rare disease clinical trials and the coordinator of the clinical research within the Radboud Centre for Mitochondrial Medicine (RCMM). As such, I am responsible for the coordination of the design and conduction of clinical studies. Currently, our clinical activities mostly involve the preparations for future clinical trials in mitochondrial diseases, for example the description of the natural disease course and the development of outcome measures. Describing the natural course of mitochondrial diseases is quite a challenge because it is a very heterogeneous disease with a very unpredictable progress. Since clinical trials are only as credible as their endpoints, the major goal of my PhD project has been to select or develop and validate endpoints and outcome measures for children with mitochondrial disease. Currently, I'm continuing my research on outcome measures and natural disease course in patients with mitochondrial disorders.

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.

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Field of study

Pediatrics

Radboud Institute for Molecular Life Sciences

Our main aim is to achieve a greater understanding of the molecular mechanisms of disease. By integrating fundamental and clinical research, we obtain multifaceted knowledge of (patho)physiological processes. read more