Earliest delivery of gene therapy in Canada changes future for baby David

Spinal muscular atrophy (SMA) is a genetic condition that causes muscles to weaken and waste away due to neuron cell damage in the spinal cord and brainstem. There are three types of SMA: Type 1 is the most severe, with patients rapidly developing respiratory problems and feeding challenges that can lead to premature death.  

David’s parents, Alexandro and Grismaris, already had a child with SMA when they learned they were expecting again. 

“We were happy to have the opportunity to have another child, but I was also nervous about potentially caring for two children with the same condition,” says David’s mom, Grismaris.  

During the pregnancy, a team at Mount Sinai Hospital confirmed David had SMA Type 1 through prenatal screening. With a diagnosis in hand, teams at SickKids and Mount Sinai moved quickly.  

“We know that with SMA, early treatment is critical to dramatically change the course of the disease,” says Dr. Hernan Gonorazky, Staff Physician and Director of the Neuromuscular Program at SickKids. “When we intervene before symptoms appear, we give patients a better chance of preserving muscle function and reaching developmental milestones. Since David was diagnosed in utero, we had the opportunity to plan for the best possible outcome by inducing early delivery.” 

Collaboration made success possible  

To ensure David could receive treatment without delay, Elisa Nigro, a specialized Nurse Practitioner in the Neuromuscular Program at SickKids, helped coordinate needs between SickKids and Mount Sinai teams. 

Timing was everything: the therapy had to be given within a narrow window of time to maximize its effectiveness.

Leaning on Mount Sinai’s expertise in caring for preterm infants, the recommended delivery time for David was 35 weeks. From there, the Mount Sinai neonatal intensive care unit (NICU) and the SickKids neuromuscular team held several meetings to develop a comprehensive care plan spanning from delivery through to transfer for gene therapy. SickKids’ NICU, Pharmacy, Department of Paediatric Laboratory Medicine, Neuromuscular Program and Gene Therapy Safety Committee—a new committee dedicated to the safe, effective delivery of gene therapies and improved access to novel treatments—also began preparing for David’s arrival. 

Most babies with SMA are diagnosed through newborn screening, and those reported are typically treated between 14-21 days of life after birth with efforts to reduce the time to treatment.  Through close coordination between the two hospitals, David was safely delivered by Cesarean section and received the gene therapy at SickKids at only 36 weeks and 2 days premature. 

“It’s our responsibility to use novel treatments and advancements to do better for patients and families – that was the inspiration to do things differently for David. Working together with Mount Sinai, we’ve proven that we can,” says Nigro.  

Setting a new precedent for the future  

His early treatment marks a significant step forward – not only for families expecting babies with SMA, but for the future of early intervention in other genetic conditions. It’s an example of Precision Child Health, a movement at SickKids to deliver individualized care to every child by finding better ways to predict, prevent, diagnose, and treat disease.

“As neonatologists, our goal is to develop collaborative models that optimize delivery timing and shorten the interval between birth and administering gene therapy,” says Dr. Adel Mohamed, neonatologist at Mount Sinai. “This approach maximizes the potential of these treatments for infants with serious genetic diseases.”

“The aim is to look beyond specific conditions and evaluate if, how and when gene therapies can be transformative for children with genetic conditions,” says Gonorazky.

“Through the Gene Therapy Safety Committee, we’re centralizing our learning and discovery to enable more children and families to have access to these novel treatments. This is the future, and Precision Child Health in action.”  

While 10-month-old David will continue to be closely monitored, he has responded well to treatment so far and is meeting developmental milestones. For Alexandro and Grismaris, this means a whole new future to dream of.  

“It’s a big change for us. The doctors say that we now have to get used to caring for a child without SMA. I almost can’t process it in my mind – I just thank God,” says Alexandro.