Treatment for severe rare disorder finally available, but screening is not – Rare Disorders NZ wants answers from Minister

Rare Disorders NZ has written to the Minister of Health asking her to urgently look into why no progress has been made to include spinal muscular atrophy (SMA) in the newborn screening programme, despite Pharmac approving two life-saving therapies for pre-symptomatic treatment of the degenerative disease.

Spinal muscular atrophy (SMA) is a rare and severe inherited neuromuscular 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.

“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 utilising them. 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,” says Chief Executive of Rare Disorders NZ, Chris Higgins.

“It is unacceptable to allow one single child to suffer deterioration from this disease now that treatment is finally being funded by Pharmac.”

Currently in New Zealand SMA is only diagnosed clinically once symptoms have begun, and 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.

Newborn screening for SMA is already happening in a number of countries worldwide, and Australia is rolling it out nationwide this year. With an already well-established screening programme in New Zealand and the 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 programme – to the child, to the family, to the health system. Let’s get this right, and then let’s find out why it took so long to get it right,” says Higgins.

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