People with neurofibromatosis type 1 may have thickened nerves (neurofibromas). We do not yet know whether these neurofibromas also lead to complaints (such as pain, sensory disorders or weakness) and whether we may need to treat these neurofibromas . There is not yet a quick and low-impact way to examine the nerves of people with neurofibromatosis type 1 and to look for deep neurofibromas.
With the ZEN study we are trying to investigate whether high-resolution nerve ultrasound can be used to examine the nerves of people with neurofibromatosis type 1. We are also investigating whether we can measure changes over time. The picture shows an example of a nerve ultrasound. 60 patients participate in this study, they undergo a neurological examination, nerve conduction study and nerve ultrasound. After two years, we again call on the patients to repeat the same examinations. The inclusion for the study is now complete, all patients are expected to have been examined for the second time by mid-March 2025 and the results can be published. Participation in the study is currently no longer possible.