April 22, 2016 7:33am

Evaluated AAV-Based Gene Therapy as a treatment for Leber Congenital Amaurosis (LCA) and Severe Early-Childhood-Onset Retinal Degeneration (SECORD)



AGTC’s  data evaluating an experimental recombinant AAV vector gene delivery in patients with Leber congenital amaurosis (LCA) or severe early-childhood-onset retinal degeneration (SECORD), two related retinal diseases cause mutations in the RPE65 gene that cause severe loss of vision in infancy.


Results from the study, entitled “Results at 2 Years after Gene Therapy for RPE65-deficient Leber Congenital Amaurosis and Severe Early-Childhood Onset Retinal Dystrophy,” were published online in the peer-reviewed journal Ophthalmology and will appear in the April print issue of the journal.

The study was conducted at Oregon Health and Science University (OHSU) Casey Eye Institute (CEI) and University of Massachusetts.  The study enrolled eight adults and four children with LCA or SECORD who received a sub-retinal injection of a recombinant AAV expressing RPE65 (rAAV2-CB-hRPE65) at one of two dose levels in the poorer “seeing” eye.


The Bottom Line: Publication of safety and bio-distribution data supported future clinical studies of gene therapy for treating Achromatopsia.  AAV-based gene therapy can improve several measures of abnormal visual function in patients affected by these disorders.  

  • One study participant had a decrease in BCVA and two subjects had a decrease in kinetic visual field area. Common adverse events associated with the injection included subconjunctival hemorrhage in eight subjects and ocular hyperemia (redness) in five subjects.

The investigators concluded that the treatment with rAAV2-CB-hRPE65 was not associated with serious adverse events and improvement in one or more measures of visual function was observed in 9 of 12 (75%) subjects.

These results are promising and add to previously published proof of concept data supporting gene therapy applications for inherited retinal diseases


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