Our group studies disease mechanisms in inherited retinal degenerations (IRDs), and evaluates efficacy and safety of potential treatments. IRDs result in vision loss due to mutations in more than 200 different genes and include diagnoses such as Retinitis Pigmentosa, Stargardt Disease, Leber Congenital Amarousis, and others. There are multitudes of different pathological mechanisms resulting from different mutations. Our group uses non-invasive tests to link changes in retinal structure and function to underlying molecular pathology. We also develop and evaluate novel outcome measures for use in clinical trials.
Sept 3, 2019: Progressive retinal degeneration following RPE65 gene therapy published in Molecular Therapy
There is wide agreement that RPE65 gene therapy results in improvement of visual function in patients with LCA caused by mutations in this gene. However, it is controversial whether gene therapy modifies the natural history of retinal degeneration in the long term, and it is also controversial whether the functional improvements are permanent. We now provide data on RPE65-mutant dogs treated at midlife and followed for ~5 years. The results suggest that gene therapy arrests the progressive retinal degeneration in retinal regions retaining >63% of photoreceptors at the time of the treatment. However, progressive retinal degeneration continues, despite successful gene therapy, in retinal regions retaining less than 63% of photoreceptors at the time of the treatment.
Gardiner KL, Cideciyan AV, Swider M, Dufour VL, Sumaroka A, Komaromy AM, Hauswirth WW, Iwabe S, Jacobson SG, Beltran WA, Aguirre GD. Long-term structural outcomes of late-stage RPE65 gene therapy. Molecular Therapy, Epub ahead of print, 2019. [PubMed] [Penn Press Release] [EurekAlert]
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