Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.

ABSTRACT:

Background

Choroideremia is an X-linked recessive disease that leads to blindness due to mutations in the CHM gene, which encodes the Rab escort protein 1 (REP1). We assessed the effects of retinal gene therapy with an adeno-associated viral (AAV) vector encoding REP1 (AAV.REP1) in patients with this disease.

Methods

In a multicentre clinical trial, six male patients (aged 35-63 years) with choroideremia were administered AAV.REP1 (0·6-1·0×10(10) genome particles, subfoveal injection). Visual function tests included best corrected visual acuity, microperimetry, and retinal sensitivity tests for comparison of baseline values with 6 months after surgery. This study is registered with ClinicalTrials.gov, number NCT01461213.

Findings

Despite undergoing retinal detachment,

SUBMITTER: MacLaren RE 

PROVIDER: S-EPMC4171740 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature