A Clinical Trial for a XLRS Gene Therapy has Completed Patient Enrollment

A press release from Applied Genetic Technologies Corporation, which can be found in full at GlobeNewswire, has announced that enrolment for a phase 1/2 clinical study has been completed. The trial will test a possible new gene therapy designed to treat x-linked retinoschisis (XLRS).

XLRS is a condition that causes vision problems in males, often from a very early age. The vision impairments are usually between 20/60 and 20/120, and cannot be improved with glasses. For some people with XLRS vision remains stable over time, while for others it deteriorates. Associated problems occur in approximately 40% of patients and can include retina detachment and bleeding. XLRS predominantly affects males, because it is caused by a mutation of the RS1 gene on the X chromosome, which in men is paired with a Y chromosome. Since this means that men only have a single copy of the RS1 gene, if it is mutated then they will develop XLRS. In comparison, women have two X chromosomes, so even if one carries the mutated XLRS gene, it is very likely that the other X chromosome will carry a healthy copy of the gene and the disease wont be expressed.

The potential treatment being trialled is a gene therapy designed to address the underlying cause of disease. It will be a twelve-month study involving twenty-seven patients with XLRS. These patients will be subdivided into four groups which each receive different dosages of the treatment via an intravenous (IV) drip. An additional group of children will also be given the therapy. This phase 1/2 trial on patients mainly aims to establish the safety of the treatment, but its effectiveness will also be measured.
This potential gene therapy trial is significant, because XLRS does not currently have an FDA-approved cure. If the gene therapy is successful in this trial, further testing will be needed, but eventually it is hoped to become available to patients as a way to improve this difficult condition.

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Anna Hewitt

Anna Hewitt

Anna is from England and recently finished her undergraduate degree. She has an interest in medicine and enjoys writing. In her spare time she likes to cook, hike, and hang out with cats.

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