Safety and efficacy of gene transfer for Leber's congenital amaurosis.
نویسندگان
چکیده
Leber's congenital amaurosis (LCA) is a group of inherited blinding diseases with onset during childhood. One form of the disease, LCA2, is caused by mutations in the retinal pigment epithelium-specific 65-kDa protein gene (RPE65). We investigated the safety of subretinal delivery of a recombinant adeno-associated virus (AAV) carrying RPE65 complementary DNA (cDNA) (ClinicalTrials.gov number, NCT00516477 [ClinicalTrials.gov]). Three patients with LCA2 had an acceptable local and systemic adverse-event profile after delivery of AAV2.hRPE65v2. Each patient had a modest improvement in measures of retinal function on subjective tests of visual acuity. In one patient, an asymptomatic macular hole developed, and although the occurrence was considered to be an adverse event, the patient had some return of retinal function. Although the follow-up was very short and normal vision was not achieved, this study provides the basis for further gene therapy studies in patients with LCA.
منابع مشابه
Gene Therapy for Leber's Congenital Amaurosis is Safe and Effective Through 1.5 Years After Vector Administration
The safety and efficacy of gene therapy for inherited retinal diseases is being tested in humans affected with Leber's congenital amaurosis (LCA), an autosomal recessive blinding disease. Three independent studies have provided evidence that the subretinal administration of adeno-associated viral (AAV) vectors encoding RPE65 in patients affected with LCA2 due to mutations in the RPE65 gene, is ...
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rig. renpheralfundus cS. We have had occasion to see a similar case, first in 1974 when the patient, a black female with no apparent vision but otherwise well, was 6 months old. At that time dilated fundus examination under anaesthesia (EUA) was normal. Repeat EUA in 1977 at age 4 years revealed bilateral peripheral fundus lesions essentially identical to those described by Chew et al. (Figs. 1...
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ورودعنوان ژورنال:
- The New England journal of medicine
دوره 358 21 شماره
صفحات -
تاریخ انتشار 2008