Gene therapy gives families hope for babies with spinal muscular atrophy



Research conducted at the Sydney Children’s Hospitals Network (SCHN), with support from UNSW Sydney and the Luminesce Alliance, has shown that gene therapy can provide effective treatment for spinal muscular atrophy (SMA) – a devastating genetic disease and fatal which causes progressive muscle weakness in babies, preventing them from being able to roll, sit, crawl, walk and possibly breathe. Until recently, it was the leading genetic cause of infant mortality in Australia, occurring in one in 10,000 births.

The results of the first part of the SPR1NT trial were presented last week at the European Academy of Neurology (EAN) conference. This trial examined the use of Zolgensma, a novel gene replacement therapy based on viral vectors. Fourteen infants, less than six weeks old and at risk of developing the most common and severe form of ADS, were treated before their symptoms appeared.

Study director Associate Professor Michelle Farrar, UNSW and pediatric neurologist at Sydney Children’s Hospital Randwick said the trial results could be a game-changer for clinicians and families affected by the disease. SMA.

“These results are extremely exciting and encouraging, not only are these children surviving, but with this therapy most are reaching the developmental stages of any normal baby which is unheard of,” A / Prof. said Farrar.

The Sydney Children’s Hospitals Network (SCHN) was the only Australian site selected to participate in the trial, and was one of the largest global recruitment sites, with four patients recruited by the SCHN. The recent introduction of the SMA test into the New South Wales Newborn Screening Program funded by a $ 2 million investment from the NSW government has made this possible.

The study, which followed each participant until the age of 18 months, found that all of the children achieved the ability to sit independently (with 78 percent of them reaching this stage within the development), all were alive and without permanent ventilation, and all had swallowing function and were exclusively orally fed at the age of 18 months.

The trial also showed that after treatment, nine children were able to walk independently, and all had fine motor performance similar to babies without SMA at the end of the study.

“The first results suggest that we may have been able to take what was considered a fatal disease and turn it around.”

Zolgensma works by treating SMA at its cause, by inserting a working copy of the defective gene into cells.

“By identifying these infants with ADS before symptoms appeared, early results suggest that we may have been able to take what was considered a fatal disease and reverse the trend with a single, single-dose infusion,” A / Teacher. said Farrar.

“It brings these babies back to life and gives hope to their families. “

Since the introduction of SMA into the newborn screening program in 2018, more than 200,000 babies have been screened, which has significantly contributed to the early identification of the disease.

“We know that early identification is vital in the treatment of ADS and this is what the newborn screening program has enabled us to do. This has radically changed our model of care and we are now in a position where we can rewrite the history of SMA, ”said A / Prof Farrar.

In addition to the newborn screening program, the government of New South Wales has invested $ 25 million to strengthen the state’s capacity to manufacture viral vectors – the key components of this type of therapy, which shows great promise. for new treatments for other genetic diseases.

The second part of the SPR1NT trial, which explored the effect of Zolgensma in babies with milder SMA, is expected to be presented later this year.



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