Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Interventional
Official Title: An Open-label, Multi-centre, Phase I/II Dose Escalation Trial of an Adeno Associated Of an Adeno-Associated Virus Vector (AAV2/5-OPTIRPE65) for Gene Therapy of Adults And Children With The inherited retinal dystrophies are a clinically and genetically heterogeneous group of conditions, which often present in childhood.Inherited retinal degenerations cause sight impairment in approximately 1 in 3000 people in the Western world. There are currently no effective treatments.
Leber congenital amaurosis (LCA) is a severe, early-onset form of inherited retinal degeneration involving both rod and cone photoreceptors. LCA is caused by mutations in one of at least 19 different genes.Mutations in RPE65, which is expressed in the retinal pigment epithelium (RPE), are responsible in 3 to 16 % of people affected. The RPE65 gene encodes a 65-kDa retinal pigment epithelium (RPE)-specific protein that is required for the conversion of vitamin A to 11-cis-retinal by the RPE and is essential for the regeneration of the rod visual pigment
Proof of principle studies for RPE65 gene replacement therapy has been demonstrated with the use of recombinant adeno-associated virus serotype 2 (rAAV2/2) vectors in animal models. Furthermore clinical trials of gene replacement therapy in RPE65 associated LCA (RPE65-LCA) have shown significant promise. All three clinical trials showed improvement in visual function over the first year, however longer term follow up Proof of principle studies for RPE65 gene replacement therapy has been demonstrated with the use of recombinant adeno-associated virus serotype 2 (rAAV2/2) vectors in animal models. Furthermore clinical trials of gene replacement therapy in RPE65 associated LCA (RPE65-LCA) have shown significant promise. All three clinical trials showed improvement in visual function over the first year, however longer term follow up demonstrated progressive visual loss and that initial improvements were not maintained.
Greater efficacy was not