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Oral compound may lead to vision gains in Leber's congenital amaurosis
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VANCOUVER, British Columbia — An orally delivered synthetic retinoid replacement therapy administered for 7 days produced rapid vision gains and durable effect in patients with Leber's congenital amaurosis.
 David A. Saperstein |
The agent, QLT091001 (QLT), is a synthetic 11-cis-retinal, which is a critical component in rhodopsin production, David A. Saperstein, MD, said at the American Society of Retina Specialists annual meeting. In patients with Leber's congenital amaurosis, genetic deficiencies at up to 15 different sites - most prominently RPE65 or lecithin retinol acetyltransferase (LRAT) - lead to inadequate levels of the needed chemical.
Although vision loss starts at birth in Leber's congenital amaurosis, anatomic loss, including photoreceptor cell death, does not occur until much later, Dr. Saperstein said. The delay between vision loss and photoreceptor death may provide a window of opportunity for treatment.
In three patients with known LRAT mutations, 7 days of therapy in a phase 1b study produced rapid gains in visual field testing that correlated with gains in visual acuity; patients also reported significant gains in quality of life after treatment, Dr. Saperstein said. These improvements persisted up to 4 months after enrollment in the trial.
The study drug was well-tolerated, with the most prominent report being transient headache. Future study is planned under an investigational drug protocol, and patients with known RPE65 mutations have already been enrolled.