During Preparatory Phase Year One, researchers from Bascom Palmer Eye Institute in Miami, Fla., screened LHON patients with acute or chronic visual loss in one or both eyes as well as their asymptomatic maternally-related family members for ND1, ND4 and ND6 mtDNA mutations commonly associated with LHON. All patients and maternal relatives underwent complete neuro-ophthalmic examinations, automated visual fields, pattern electroretinogram (PERG) and OCT every 6 months. The team recruited 46 subjects.
The results were presented at the 2010 Annual Meeting of the Association for Research in Vision and Ophthalmology in Fort Lauderdale, Fla.
The researchers concluded during this phase that “RGC survival with dysfunction many months after visual loss may provide a long window of opportunity for intervention and rescue by AAV mediated ocular gene delivery of a normal ND4 subunit. It would also correct for secondary mutations with expression of the normal ND4 protein.”
Based on these results, possible candidates for future gene therapy may include affected patients with mildly reduced RNFL [retinal nerve fiber layer] or carriers with low PERG amplitudes and normal RNFL if the PERG is a predictor of conversion to LHON in these carriers. Reduced PERG amplitude but increased phase occurred in affected suggests a more preferential impairment of the parvocellular visual pathway in LHON.
Abstract Name: Leber Hereditary Optic Neuropathy Gene Therapy Clinical Trial: Preparatory Phase Year One
Presentation start/end time: Sunday, May 2, 2:45–4:30pm
Program No: 994
Location: Hall A, Broward County Convention Center.
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