A Dose Escalation Phase 1/2 Clinical Trial of Retinal Gene Therapy for X-linked Retinitis Pigmentosa

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Study Overview

X-Linked Retinitis Pigmentosa (XLRP) is currently defined as an incurable genetic disease that causes blindness. The disease is caused by a defect in a certain gene located on the X-chromosome, and this is why the disease affects men and women differently. In XLRP, this faulty gene results in a progressive degeneration of the retina (the light sensitive part of the eye responsible for vision, which is like a camera film that lines the back of the eye). There are currently no effective treatments available for XLRP. This clinical trial will investigate whether a gene therapy (a technique that involves putting normal copies of the faulty gene back into the cells of the retina) may help the cells in the retina affected by this disease to function normally. The gene therapy consists of a virus which has been disabled so that it cannot cause infection. This virus has been specially altered to carry the normal genes into the cells in the retina. The altered virus is delivered to the retina during an operation where it will produce multiple copies of the normal gene.

Study Description

The long-term objective is to find out if vision in patients with XLRP can be preserved by replacing the defective RPGR gene using this gene therapy. However, this is the first time that AAV8-RPGR will be administered in humans and therefore a correct dose of AAV8-RPGR still needs to be determined. The purpose of this study is to assess whether AAV8-RPGR is safe and if it can improve vision or other symptoms of XLRP at different dose levels. AAV8-RPGR is experimental which means it has not yet been approved for use outside of a research setting. 

  • Study Identifier: 831823

Recruitment Status


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