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Gene therapy shows promise in treating Leber's congenital amaurosis
 Shalesh Kaushal |
LONDON — Gene therapy for Leber's congenital amaurosis is showing signs of success in an ongoing clinical trial, a physician said here.
"[Leber's congenital amaurosis] is a rare hereditary retinal degenerative disease that causes visual loss in infancy or childhood and involves mutation of the RPE65 gene," Shalesh Kaushal, MD, said at the Euretina meeting.
Gene therapy is accomplished through subretinal injection of a functioning RPE65 gene copy, using the adeno-associated virus as a vector.
"The [adeno-associated virus] is a nonpathogenic parvovirus which has 100 natural variants and is therefore capable of targeting different cell types. The instrument used to deliver it subretinally is a simple tip connected with a syringe through which the [balanced salt solution] containing the virus is injected. The contractile properties of the retina promote sealing of the vector within the target tissue," Dr. Kaushal said.
Both rod and cone function increased in the treated area, demonstrating long-term improvement and possibly remodeling of retinal function, he said.
- Disclosure: Dr. Kaushal has no relevant financial disclosures.