Gene Therapy Breakthrough

by Dan Roberts
April 28, 2008
According to two studies published in the New England Journal of Medicine*, doctors have, for the first time, used gene replacement therapy to restore vision in patients with Leber’s congenital amaurosis. Leber’s syndrome is a form of retinitis pigmentosa (RP) that affects children and often leads to blindness by age 30. Leaders of the studies were Albert Maguire, M.D., of the University of Pennsylvania School of Medicine and Robin R. Ali, Ph.D., of University College London.
Both research teams injected adeno-associated viruses into the subretinal space to deliver the rpe65 gene to the cells. One eye of each patient was treated.
In the U.S. study, one patient improved from an acuity of 20/2000 to 20/710. The three British patients didn’t show acuity improvement, but did improve in other areas of visual function. More sensitive night vision was reported for patients in both studies. No serious side effects or safety concerns were reported by either group. The next step is to study the treatment in younger patients.
According to Gordon Gund, chairman and co-founder of the Foundation Fighting Blindness (sponsors of the US study), “This is great news for all people affected by retinal degenerative diseases. The breakthrough paves the way for the development of gene therapies to treat a wide variety of retinal conditions including other forms of LCA, many forms of retinitis pigmentosa, Stargardt disease, Usher syndrome, and age-related macular degeneration.”
To read about the development of gene replacement therapy, see these articles in this resource Library:
Foundation Researchers Restore Vision in Canine Model of Childhood Blindness
Foundation Researchers Use Gene Therapy to Restore Retinal Function in an Animal Model of Retinal Degeneration
To learn about Leber’s syndrome, see
*Effect of Gene Therapy on Visual Function in Leber’s Congenital Amaurosis (James W.B. Bainbridge, Ph.D., et al, 10.1056/NEJMoa0802268, April 27, 2008)

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