2 January 2017

Stofwisselkracht in collaboration with Ride4Kids and Join4Energy granted Saskia Koene financial support for her project entitled "Preparations for a future clinical trial in children with the m.3243A>G mutation: a pilot study".

In this project, preparations for a natural history study in this population will be performed by testing 10 selected outcomes measures in 10 patients with this mutation. The data provided by this study will be used to select clinically relevant and reliable endpoints for future studies.
  • Want to know more about these subjects? Click on the buttons below for more news.

    Metabolic disorders

Related news items


Experts on metabolic diseases still an unknown major problem...

1 July 2020

Six Dutch UMCs and a patient association contribute to treating and solving this major, often unknown, problem. Timely detection of metabolic diseases is vital. Therefore, Radboudumc is also part of the consortium “United for Metabolic Diseases”.

read more

Martinus van Marum Award for Tom Schirris

23 June 2020

​The award intends to stimulate young researchers and is based on their PhD thesis and follow-up research.

read more

Metabolomics Society Early Career Travel Award for Purva Kulkarni

18 June 2020

Purva Kulkarni has been awarded the Metabolomics Society Early Career Travel Award to present her work titled - Towards precision diagnostics: Untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.

read more

Metakids-UMD grant for Purva Kulkarni

18 June 2020

The Metakids foundation has awarded 220.575 Euro to support the establishment of a multi-omics biomarker platform within the United for Metabolic Disease (UMD) consortium.

read more

Cooling strategies for COVID-19 health personnel to attentuate PPE-induced heat strain

11 June 2020

Radboudumc develops infographic with cooling information

read more

MetaDome highly accessed

7 May 2020

MetaDome was recently recognized as one of the most accessed articles of 2018-2019 in Human Mutation. The MetaDome was a project developed by Laurens van de Wiel, Christian Gilissen, and Gert Vriend.

read more