Gene therapy cured rare children disease

Gene replacement therapy delivered directly to the brain has enabled some children with a rare genetic condition to walk and talk for the first time.

« It’s a dream come true, » says Richard Poulin, whose daughter Rylae-Ann received this therapy in November 2019, when she was 18 months old. Rylae-Ann, who lives in Thailand, went from being unable to say a word, move or even lift her head to « running, jumping, kicking a ball, riding a horse, swimming and speaking in multiple languages “, according to Richard Poulin.

Rylae-Ann was born with AADC deficiency, a genetic disease of which less than 150 cases have been identified worldwide. It is caused by a faulty variant of a gene called DDC, which prevents the brain from making dopamine and serotonin.

Without these neurotransmitters, children with AADC deficiency « can’t control their heads, can’t sit, walk, or talk — they’re bedridden, » says Wuh-Liang Hwu, from the National Taiwan University Hospital. , who led a clinical trial of this gene therapy, called Upstaza. Many of them also suffer from « oculogyric crises », which is to say that their eyes roll over in their heads. Most die at a young age, he says.

Source