Blindness

In the world’s first clinical trial of the treatment, gene therapy restored sight within six months to people affected by a severe, inherited form of blindness which begins at birth and has no effective treatment.

Teams in the US and Britain were able to restore vision to four young people with Leber’s congenital amaurosis, a group of recessively inherited forms of blindness that gradually destroys the retina and leaves patients completely blind by their late 20’s. Caused by the mutation by several genes, including RPE65, surgeons from University College London (UCL) and Moorfields Eye Hospital injected a harmless virus containing a healthy copy of the RPE65 gene under each patient’s retina. The virus then ferried the healthy gene into nearby cells, which then began working normally.

“This really paves the way for developing a treatment for people who have so far had no prospect of a cure,” said Robin Ali, an ophthalmologist at UCL, who leads the British team. “If everything goes well, it’s possible that within two to three years it might be approved for use in the clinic.”

“I think this is incredibly exciting,” said Dr. Jean Bennett, a professor of ophthalmology at the University of Pennsylvania and a leader of the Philadelphia study. “It’s the beginning of a whole new phase of studies.”

In the future, this treatment will have the potential to reverse or cure over 100 inherited forms of blindness. Clinical trials are underway to determine the safety and efficacy of the treatment especially for the long term.

Do more:

• BBC News video of the patient — watch him test his improvement in a maze: Gene therapy aids youth’s sight
• UCL Press Release: “Results of world’s first gene therapy for inherited blindness: story and video”
• New England Journal of Medicine article: “Gene Therapy for Leber’s Congenital Amaurosis” (Published April 27, 2008)

You can follow any responses to this entry through the RSS 2.0 feed. You can leave a response, or trackback from your own site.