The Netherlands Organisation for Health Research and Development, Netherlands


  • Treatment of patients with Fabry disease with agalsidase alfa and agalsidase beta: phenotypic diversity necessitates the development of individualized (website)


  • A novel technology to improve Enzyme Replacement Therapy for Mucopolysaccharidosis I and Fabry disease (website)
  • Gene-corrected stem cells for curative treatment of SCID (website)
  • Preventing arrhythmias and sudden cardiac death in long QT syndrome type 3 through pharmacological late sodium current inhibition (website)
  • Thyroid hormone analog therapy of patients with severe psychomotor retardation caused by mutations in the MCT8 thyroid hormone transporter: The Triac Trial (website)
  • Treating the cognitive deficits associated with NF1 using the HCN channel agonist lamotrigine (website)


  • Antisense therapy for several major rare diseases (website)
  • Towards treatment of MELAS syndrome: drug development based on newly identified compounds (website)