Existing instruments

We have validated the Gaitrite as a suitable instrument for the quantification of gait in children and adults with mitochondrial disease. Many instruments, including the 6-minute walking test, questionnaires for wellbeing, accelerometry, the PRPP, and timed tests are currently under evaluation. 
People Saskia Koene Outcome measures in mitochondrial disease

Robust outcome measures

The ultimate goal of this research group is 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.

Research group leader

Saskia Koene MD PhD

+31 (0)24 36 16873
contact

Aims

Our three research aims to select precise and clinically relevant outcome measures to monitor the wellbeing of patients, both children and adults, with mitochondrial disorders.

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Aims

Our three research aims to select precise and clinically relevant outcome measures to monitor the wellbeing of patients, both children and adults, with mitochondrial disorders.
  • We aim to test the value of existing instrument
  • We aim to develop and validate new tests
  • We aim to select the most appropriate instruments for natural history studies and clinical trials

Discoveries

  • We have validated the Gaitrite as a suitable instrument for the quantification of gait. Many instruments are currently under evaluation.

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  • New tests

    We have developed the International Paediatric Mitochondrial Disease Scale, a scale to quantify general mitochondrial disease severity in children. Also, a 6-minutes mastication test was developed to assess endurance of continuous chewing in this population.

  • Selection of appropriate instruments

    We’ve recently completed a validation study in children with mitochondrial myopathy. Based on these results, we will select outcome measures for future natural history studies together with key opinion leaders.

Team

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