TeachRare’s Review in New Scientist: Gene Therapy Offers Hope for Children with Rare Diseases
During an interview with New Scientist, a follow-up from our SSIEM presentation, we were able to explain our experience with a gene-replacement therapy that is administered directly to the brain.
This novel treatment has allowed many children with rare genetic condition known as aromatic l-amino decarboxylase (AADC) deficiency to walk and talk for the first time.
The following quote reflects the dream we want for all in our community:
“It’s a dream come true,” says Richard Poulin, whose daughter Rylae-Ann received the therapy in November 2019, aged 18 months. Rylae-Ann, who lives in Thailand, went from being unable to say any words, move or even lift her head to “running, jumping, kicking a ball, riding a horse, swimming and speaking in multiple languages”, according to Poulin.
The article goes on to explain about AADC deficiency and how there are fewer than 150 documented cases worldwide; as a result of a faulty DDC gene. This gene is responsible for synthesizing dopamine and serotonin so children with the disease are not able to produce these vital neurotransmitters.
The article also includes an interview with Dr. Hwu, Rylae-Ann neurologist at National Taiwan University Hospital. He explained how children with AADC deficiency do not have head control, cannot sit up, cannot walk, and cannot talk. They are bedridden and required full-time care and support to survive. Most children with this severe disease die at a young age.
During SSIEM, PTC Therapeutics showcased its recently EMA-approved Upstaza gene therapy. The results speak for themselves, but doctors learned how this life-saving procedure replaces the faulty DDC gene. This potentially offers similar benefits for rare diseases. With health care professionals and researchers taking note, the full potential of this treatment brings hope for many!
IFL Science also picked up the story and featured an extended review on AADC deficiency. It points out how PTC gene therapy became the first approved treatment for this condition and the first marketed gene therapy directly infused into the brain. Maddy, a columnist, wrote Gene Therapy Sees Children With Rare Genetic Condition Walk And Talk For First Time and showcases the passion for science.
Mert, a columnist for Interesting Engineering highlighted that this treatment has been tested on 30 children with AADC deficiency, a small number that Teach RARE aims to make available to all who need it. For those who want to learn more about gene therapy, the article, Novel gene therapy could help children with rare genetic condition walk and talk, includes information on how Upstaza gene therapy works.