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
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.
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
Contact the research team to learn more about this study.