Mackenzie Casella was a much-loved baby girl who didn't make it to her first birthday after being diagnosed with spinal muscular atrophy (SMA).
For baby Mackenzie, the diagnosis came too late but today Sydney scientists have released their world-first findings into the treatment of the genetic condition at Westmead Hospital.
"When we asked what that meant we were told it was a terminal diagnosis and she would likely pass away before she was eight months old," Mackenzie's mum Rachael Casella said.
All babies in NSW are now screened for the condition at birth after her death.
"The impact that this new therapy is having on patients is incredible," Casella said.
"It's transformative. It's enabling children to reach normal developmental milestones."
Researchers have been studying the immune response in children receiving therapy for the genetic condition in the hope it will lead to more treatment options.
They have developed a treatment that delivers a healthy copy of a gene to diseased cells using a harmless virus as a vehicle (AAV).
More than 40 newborns with the devastating condition have been successfully treated with the game-changing therapy in NSW since 2019.
"It won't bring Mackenzie back but it makes me so happy that these kids, these beautiful sweet little innocent babies are getting the life they deserve," Casella said.
SMA is an inherited neuromuscular disorder and a leading genetic cause of infant death in Australia, according to the Children's Medical Research Institute
Children who are born seemingly perfectly healthy never gain the ability to crawl, walk, sit up and eventually even lose their ability to breathe, with the most severe cases dying within the first two years of life.
Children's Medical Research Institute doctor Grant Logan and his team have been studying the immune response to the AAV vector in children diagnosed with SMA and treated at birth.
"We find that treated patients make a huge antibody response to the AAV delivery system and this has given us insights into the complexity of the human response to the AAV gene therapy," Logan said.
"Additionally, we have isolated a large panel of these antibodies, which will serve as critical and valuable tools to re-engineer the surface of the AAV delivery system to escape the antibodies that already exist in some patients."
The trial could also benefit other children who could be treated using AAV gene therapy for genetic disorders such as Sanfilippo syndrome and Duchenne's Muscular Dystrophy.
Sign up here to receive our daily newsletters and breaking news alerts, sent straight to your inbox.
