Out-licensing

Method for Treating or Retarding the Development of Blindness: Gene Therapy Clinical Trial

Introduction/Background

Retinitis pigmentosa and Leber's congenital amaurosis (LCA) are included in a group of inherited blinding diseases associated with retinal degeneration with onset during childhood. Leber's congenital amaurosis affects between 2,000-10,000 people and Retinitis pigmentosa affects between 100,000 to 200,000 Americans. One form of the disease, LCA2, is caused by mutations in the retinal pigment epithelium-specific 65-kDa protein gene (RPE65). This disease is associated with poor vision at birth and complete loss of vision in early adulthood.

Aims/Hypothesis

There is thus a need for agents that restore visual function.

Results

A recent clinical trial performed by researchers from The University of Pennsylvania and the Children's Hospital of Philadelphia has shown the use of gene therapy to safely restore vision in three young adults with Leber congenital amaurosis (LCA) which is a rare form of congenital blindness with no current method of treatment. Although the patients have not achieved normal eyesight, the preliminary results set the stage for further studies of an innovative treatment for this and possibly other retinal diseases.

Three LCA patients were enrolled in each of two separate trials of recombinant adeno-associated viral delivery of the human retinal pigment RPE65 which was administered as a subretinal injection to patients with severe vision loss and as described, Maguire et al., found an improvement in visual acuity in all three patients. Preliminary results from these studies in humans suggest that these procedures are safe and effective and that larger studies are warranted. Proof-of-principal experiments were also performed between 2000 and 2006 on 55 dogs resulting in restored visual function in> 90% of animals treated. Visual function in these animals has remained stable for up to 8 years with a single treatment.

The intellectual property related to this invention specifically relates to the use of recombinant adeno- associated viruses as a method for treating blindness due to genetic defects or deficiencies. The method described includes sub-retinal injection to deliver recombinant adeno-associated virus containing a nucleic acid sequence encoding a normal retinal pigment epithelial cell-specific genes to retinal pigment epithelial cells in patients suffering from retinal degenerative disease.

Conclusion

A novel treatment of retinal degenerative diseases through gene therapy is undergoing clinical development.

Relevance/Opportunity

We are currently seeking licensing or codevelopment partnerships. Please enquire quoting reference no. N2514.

Phase II