Choroideremia is a rare genetic disorder that causes gradual vision loss that eventually leads to total blindness. Currently there exists no cure or treatment to help people affected with choroideremia, but there are some promising prospects. A group of British scientists are working on an experimental form of gene therapy that has had exciting results, as reported by Science Magazine on April 29.
Gene therapy involves using healthy or modified genes to help cure or prevent disease. It is still in the early stages of development, but could one day be a viable alternative treatment for illnesses that cannot be treated by surgery or traditional medicine. In this particular clinical study patients with choroideremia were injected with a working copy of the gene that was failing them. Researchers hoped it would halt the degeneration that was being caused by the inherited faulty gene and possibly even regenerate the cells that had been lost.
The experimental treatment has been a resounding success and has had a profound impact on patients. For example, Joe Pepper, a 24-year-old history teacher who has slowly been losing his vision since he was a boy. The treatment not only stopped his vision loss, but actually improved it afterwards.
Pepper enjoyed cricket in school. At age 16 he was forced to give up the sport he loved, because his vision would no longer allow it. He took it on as a coach, but would have been forced to quit that as well when he eventually became blind.
“I cannot explain how terrifying and upsetting it was when I was younger,” he told the BBC. “And now to know that there is so much opportunity, there is so much that I can actually do and do the things that I have actually wanted to and continue to do the things I really enjoy.”
Pepper is one of 32 patients that have had their vision restored to some degree with the treatment. He is the most successful thus far because he is one of the youngest. The treatment was able to reverse the degeneration before it advanced too far. One of the most exciting benefits of the treatment is that once the gene has been placed it appears to be long lasting, with no further treatment required after.
Researchers are beginning further trials and hope to have the treatment available for the general public in three years. Gene therapy will not only be beneficial to those with choroideremia, but to those with other forms of progressive blindness. Further research is needed to see how many can benefit from this experimental treatment.
