Gene therapy

[phkrause]

Gene therapy eyedrops restored a boy’s sight. Similar treatments could help millions

MIAMI (AP) — Dr. Alfonso Sabater pulled up two photos of Antonio Vento Carvajal’s eyes. One showed cloudy scars covering both eyeballs. The other, taken after months of gene therapy given through eyedrops, revealed no scarring on either eye.

https://apnews.com/article/gene-therapy-blindness-rare-diseases-58f81838894dfb8568affde0b7e4d2f1?

[phkrause]

A 3-year-old boy appears to have fully recovered after receiving the first-ever gene therapy to treat Hunter syndrome earlier this year, researchers revealed yesterday. 

The rare, inherited disease affects roughly 2,000 people worldwide, with boys having a higher risk of carrying the disease. Children born with Hunter syndrome have a faulty gene that prevents them from producing the enzyme needed to break down complex sugar molecules. Without treatment, the molecules accumulate in their tissues and organs, leading to physical and mental decline in a process resembling dementia. Life expectancy is between 10 and 20 years. Standard treatment is a three-hour-per-week enzyme replacement therapy costing nearly $500K per year. While it can reduce organ problems, the therapy cannot slow mental decline.

The latest treatment for the 3-year-old boy, however, involved removing his stem cells and replacing the gene before reinjecting the cells. Unlike prior treatments, the latest intervention can reach the brain, preventing mental decline. See more here.