START ATALUREN FOR TEST PERSONS

    The medicine Ataluren (TranslarnaTM) binds itself to the “protein machine” and weakens the recognition of the stop signal and can “overwrite” this. This leads to the production of normal proteins over the full length. It is a powder that is drunk solved in water three times a day. In safety studies involving more than a thousand patients (> 2 years; with another disorder than Usher Syndrome) only minimum side effects were observed, such as diarrhoea of nausea during the first week of use. By now, Ataluren has been approved in Europe as a medicine for treating Duchenne muscular dystrophy (a serious form of muscular dystrophy) as a consequence of “nonsense” mutations in the DMD gene.

    In the laboratories of Kerstin Nagel-Wolfrum (Johannes Gutenberg Universität, Mainz, Germany) and Mariya Moosajee (UCL, London, UK) it was demonstrated that in cultivated cells of a patient with “nonsense” mutations in USH2A, about 20 to 25% of the normal quantity of USH2a protein is produced again after administration. This might be sufficient to effectively slow down the progression of the disease. The laboratory in London now wants to start testing this medicine with patients suffering from retinitis pigmentosa caused by “nonsense” mutations in USH2a and USH1C.

    A cross-over test is started with the medicine Ataluren in the Moorfields Eye Hospital. A cross-over study is a study in which test persons are all administered the medicine for a certain period and a placebo for a certain period. It is expected that it will take a total period of two years to guarantee absolute safety and to be able to determine whether the deterioration of the vision is inhibited or stabilised.