Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia.

ABSTRACT: Retinal gene therapy is increasingly recognized as a novel molecular intervention that has huge potential in treating common causes of blindness, the majority of which have a genetic aetiology^1-5. Choroideremia is a chronic X-linked retinal degeneration that was first described in 1872⁶. It leads to progressive blindness due to deficiency of Rab-escort protein 1 (REP1). We designed an adeno-associated viral vector to express REP1 and assessed it in a gene therapy clinical trial by subretinal injection in 14 patients with choroideremia. The primary endpoint was vision change in treated eyes 2 years after surgery compared to unoperated fellow eyes. Despite complications in two patients, visual acuity improved in the 14 treated eyes over controls (median 4.5 letter gain,

SUBMITTER: Xue K 

PROVIDER: S-EPMC7032956 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature