Province funds spinal muscular atrophy treatment

By Sean Feagan, Local Journalism Initiative Reporter

Alberta will begin funding a gene therapy treatment for child spinal muscular atrophy (SMA), a degenerative neuromuscular genetic disorder, on a case-by-case basis.

On Jan. 17, Tyler Shandro, Minister of Health, announced in a press conference the province would fund Zolgensma, the only gene therapy treatment approved by Health Canada for SMA, on a case-by-case basis. The cost of the treatment is about $2.7 million.

SMA is a progressive motor neuron disorder, meaning it is marked by the degeneration of motor neurons in the spinal cord and brainstem, causing muscles to get progressively weaker over time. This includes muscles used for head and neck control, sitting, crawling, walking and swallowing.

It is a genetic disease, being most often caused by an infant receiving two defective copies of a single gene, called SMN 1, located on chromosome five.

While considered rare, found in about one-in-10,000 infants, it is the leading genetic cause of infant death and is the second most common autosomal recessive disorder (caused by having two copies of a defective gene) after cystic fibrosis. About one in 50 people carry one copy of the defective gene.

Throughout their life, children with the disease are likely to require some combination of supportive respiratory, nutritional and musculoskeletal care to function. When left untreated in its most severe form, SMA results in the requirement for permanent ventilation or death by age two, in more than 90 per cent of cases.

Zolgensma, produced by Novartis Pharmaceuticals, gives new hope for children born with the disease. This treatment is a one-time injection that uses a virus vector to insert a working copy of the relevant gene into the patient’s body, replacing the missing or defective gene, to halt disease progression.

Drug treatments for SMA exist, but require hospital visits for affected children, are administered through a spinal tap, and require maintenance dosing several times a year.

Zolgensma was approved by Health Canada for children less than two years of age in December. A review by Canadian Agency for Drugs and Technologies in Health (CADTH), an assessment of whether provinces are recommended to list a drug as a funded medication. In the meantime, Alberta will immediately fund the treatment for children approaching the age cutoff while waiting for the drug review and approval process to be completed, said Shandro.