Leber’s congenital amaurosis

Leber’s congenital amaurosis is a dystrophy of the retina which provokes progressive blindness in affected children. It accounts for 10% to 20% of the cases of blindness in children.

Phase I/II gene therapy trial utilizing the rAAV2/4.hRPE65 vector for the treatment of retinal dystrophy associated with defects in the RPE65 gene

  • Laboratoire de référence : Atlantic Gene Therapies
  • Partners: University Hospital of Nantes

In October 2011, the Nantes University Hospital began a gene therapy trial which included 9 patients with Leber’s congenital amaurosis. Objectives: to evaluate tolerance of a single administration of the experimental drug in child and adult patients suffering from a retinal dystrophy associated with a defect in the RPE65 gene; to evaluate the efficacy of the administration of the experimental drug in one eye and to evaluate the humoral and cellular immune response following the administration of the experimental drug. This trial is the result of research performed in the Atlantic Gene Therapies laboratories which, since 2006, have succeeded in restoring vision to puppies affected with this pathology. The vector for the drug was produced by Atlantic Bio GMP (French Blood Agency, AFM-Telethon, INSERM, and the Nantes University Hospital).

Modeling of retinal pathologies

  • Reference laboratory: I-Stem

A group in I-Stem (Christelle Monville) is working on the modeling of retinal pathologies of genetic origin using iPS cell lines which carry mutations, in order to identify biological markers associated with these mutations, and then to initiate screening of molecules which are  potentially therapeutic for these diseases. The first retinal pathology to be studied is Leber’s congenital amaurosis

Gene therapy development program for PDE6 beta and RPGRIP retinopathies

  • Reference laboratory: Atlantic Gene Therapies

Based on their experience working on Leber’s congenital amaurosis, teams from Nantes are exploring the preclinical development of a gene therapy strategy for two other pigmentary retinitis diseases associated with mutations in the PDE6 Beta and RPGRIP genes.