Molecular and clinical characterization or RP/LCA patients with PDE6B and AIPL1 mutations

Leader of the WP is Robin Ali from University College London (London, UK).

The objective of workpackage 4 is the molecular and clinical characterization or RP/LCA patients with PDE6B and AIPL1 mutations to select candidates for photoreceptor gene transfer in humans.

In order to successfully develop gene replacement therapy for these diseases, as is the central objective of this project, it is not sufficient to identify mutations in the PDE6B or the AIPL1 gene. In this workpackage we will identify patients with mutations in these genes using gene chip screening and direct sequencing. The patients with confirmed mutations in PDE6B or AIPL1 will be invited to participate in a comprehensive clinical characterization. The clinical characterization of the RP/LCA patients using electroretinography, and retinal imaging will allow us to estimate the optimal time interval for successful treatment and it will help identify the areas in the eye most amenable to treatment in individual patients. Based on the outcome of these characterizations, we will compose a set of recommended clinical tests that are to be performed before gene therapy treatment of these forms of RP/LCA.