RARE Daily

New Zealand Patient Advocacy Group Calls for Newborn Screening to Include SMA

June 5, 2023

Rare Daily Staff

Rare Disorders NZ, a national rare disease patient advocacy group in New Zealand, has called on the Minister of Health to advance newborn screening for the degenerative neuromuscular condition spinal muscular atrophy given that two life-saving therapies for pre-symptomatic treatment of the disease is available in the country.

Spinal muscular atrophy is a rare condition that leads to progressive muscle wasting. Infants with the most severe form, type 1 SMA, die within the first two years of life. Without treatment it is the most common genetic cause of death in infancy.

In New Zealand, the Pharmaceutical Management Agency (Pharmac) determines on behalf of Health New Zealand the medicines that are subsidized for use in the community and public hospitals. Despite having approved of two therapies for the condition, SMA in New Zealand is only diagnosed clinically once symptoms have begun. Delayed diagnosis is common, as the symptoms are similar to those of other diseases.

Deterioration occurs rapidly, with infants with type 1 SMA losing almost all motor nerves by the time they are three months of age. All clinical trials for SMA treatment have shown that treating pre-symptomatic infants yields much better clinical outcomes than treating symptomatic infants, as the disease is irreversible and lost motor neurons cannot be restored.

The group said it sent a letter to the Minister of Health asking why no progress had been made in the newborn screening program to include SMA with two therapies available.

“We have all the tools in New Zealand at the ready to be able to nip this awful disease in the bud before any deterioration occurs in affected infants, yet we are not utilizing them,” said Rare Disorders NZ CEO Chris Higgins. “If the lack of progress to begin screening for SMA is an oversight, it needs to be rectified immediately, and if there is a particular reason not to pursue it, this needs to be communicated. It is unacceptable to allow one single child to suffer deterioration from this disease now that treatment is finally being funded by Pharmac.”

The group noted that newborn screening for SMA is already happening in a number of countries worldwide, and Australia is rolling it out nationwide this year. It said given New Zealand’s well-established screening program and capabilities to screen for severe combined immune deficiencies, implementing genetic testing for SMA should not pose major challenges.

“The cost is too high not to include SMA in the newborn screening program—to the child, to the family, to the health system,” said Higgin. “Let’s get this right, and then let’s find out why it took so long to get it right.”


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