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Translational Studies

Mutations in any of more than 250 different genes can cause blindness. 

In many cases, mutations which destroy the normal function of a given gene will cause disease. In such instances it may be possible to deliver normal copies of the disease-causing gene to the affected cells. We and others have demonstrated that this is possible in Leber’s Congenital Amaurosis (LCA) caused by RPE65 mutations. We carried out proof-of concept studies in animals born blind to this condition and showed that vision could be restored by gene augmentation therapy. With our partners at The Children’s Hospital of Philadelphia (CHOP), we demonstrated that vision could also be restored in children and young adults with this disease. Children who, before treatment, were dependent on blind canes for navigation are now able to walk independently and participate in regular school (and extracurricular) activities. 

We also showed that in LCA-RPE65, gene therapy could be re-administered safely to the contralateral eye. The goal now is to extrapolate the gene augmentation approach to other genetic causes of blindness. CAROT has demonstrated proof-of–concept of gene therapy for Choroideremia, an X-linked condition (and thus affecting boys and men). 

 CAROT has been working with investigators at CHOP to plan a clinical trial for Choroideremia (estimated start date is October 2014). CAROT also has gene therapy paradigms for half a dozen other blinding diseases in the pipeline, including other forms of LCA (forms caused by CEP290, RDH12 and Lebercilin mutations and also a form of macular degeneration, Stargardt disease.) Our successes in both bench and clinical research make us a truly translational center.