Rare diseases affect eight percent of the population. One of the reasons that treatments lag behind, is that it is difficult to proof that rare disease treatments work. Traditional large clinical trials are hampered by low patient numbers and only present data on the statistical group difference.
This thesis shows that N-of-1 trials, medication trials that include multiple placebo en active treatment per patient, provide a reliable alternative evidence on the effectiveness of treatments in patients with rare diseases.
This was investigated in the muscle diseases non-dystrophic myotonia and periodic paralysis with mexiletine and salbutamol as drug treatments.
With the Bayesian statistical approach, it was not only possible to answer the question: ‘Does this treatment works for this disease?’ but also the patient’ question: ‘Does this treatment really works for me?’
N-of-1 trials are able to bridge the gap between science and clinical care and truly personalize medicine.
Bas Stunnenberg (1984) obtained his Master’s degree in Medical Biology, cum laude, at the Radboud University in 2007, and his Master’s degree in Medicine, at the University Utrecht in 2011. In 2013 he started his PhD research at the Departments of Neurology and Health Evidence of the Radboudumc, in parallel with his residency in Neurology. Currently, he works as a neurologist in the Rijnstate Hospital in Arnhem.