[HTML][HTML] Effect of gene therapy on visual function in Leber's congenital amaurosis

JWB Bainbridge, AJ Smith, SS Barker… - … England Journal of …, 2008 - Mass Medical Soc
JWB Bainbridge, AJ Smith, SS Barker, S Robbie, R Henderson, K Balaggan, A Viswanathan
New England Journal of Medicine, 2008Mass Medical Soc
Early-onset, severe retinal dystrophy caused by mutations in the gene encoding retinal
pigment epithelium–specific 65-kD protein (RPE65) is associated with poor vision at birth
and complete loss of vision in early adulthood. We administered to three young adult
patients subretinal injections of recombinant adeno-associated virus vector 2/2 expressing
RPE65 complementary DNA (cDNA) under the control of a human RPE65 promoter. There
were no serious adverse events. There was no clinically significant change in visual acuity …
Early-onset, severe retinal dystrophy caused by mutations in the gene encoding retinal pigment epithelium–specific 65-kD protein (RPE65) is associated with poor vision at birth and complete loss of vision in early adulthood. We administered to three young adult patients subretinal injections of recombinant adeno-associated virus vector 2/2 expressing RPE65 complementary DNA (cDNA) under the control of a human RPE65 promoter. There were no serious adverse events. There was no clinically significant change in visual acuity or in peripheral visual fields on Goldmann perimetry in any of the three patients. We detected no change in retinal responses on electroretinography. One patient had significant improvement in visual function on microperimetry and on dark-adapted perimetry. This patient also showed improvement in a subjective test of visual mobility. These findings provide support for further clinical studies of this experimental approach in other patients with mutant RPE65. (ClinicalTrials.gov number, NCT00643747.)
The New England Journal Of Medicine