Expanded funding of SPINRAZA for treatment of pre-symptomatic SMA babies

1 March 2024 - Reimbursement of SPINRAZA® (nusinersen) has now been expanded to cover babies with presymptomatic spinal muscular atrophy (SMA) with three copies of the SMN2 gene, providing an option for earlier treatment to clinicians and families.¹

As announced by the Minister for Health Mark Butler, from 1 March 2024 SPINRAZA will have the additional listing on the Pharmaceutical Benefits Scheme enabling the treatment of babies identified through genetic testing with one, two or three copies of the SMN2 gene.²

SMA is a rare, debilitating, and often fatal, genetic neuromuscular condition, which results in progressive muscle wasting for which there is no known cure.³

When babies are treated early and before SMA symptoms show, they may experience significant benefits compared with treatment after symptom onset, such as meeting age-appropriate development milestones and greater motor improvements.⁴

“Biogen has been, and continues to be, committed to working with all stakeholders to ensure SPINRAZA is available as an option for people with SMA to treat this devastating disease” commented David Henderson, Managing Director of Biogen Australia and New Zealand.

“Today’s listing provides clinicians and families with a further treatment option for babies with pre-symptomatic, genetically diagnosed SMA.”

SPINRAZA is the first-ever medicine developed and approved for the treatment of SMA 5q* and has amassed clinical evidence across a broad range of patients and real-world experience over eight years and treating more than 14,000 patients worldwide.⁵

SPINRAZA received approval from the Therapeutic Goods Administration for the treatment of all people with 5q SMA in 2017⁶ and was reimbursed on the Pharmaceutical Benefit Scheme for the treatment of paediatric patients (18 years and younger) with infant or childhood onset of SMA demonstrating symptoms prior to three years of age in 2018.⁷

SPINRAZA is also funded for the presymptomatic treatment of babies diagnosed with SMA (with one and two copies of SMN2) and adults diagnosed with SMA whose symptoms appeared before 19 years of age.⁸

Left unaddressed, infants with SMA may struggle to meet a range of development milestones such as holding their head up, sitting up by themselves, walking and standing.⁹ In its most severe forms, SMA can cause paralysis and death.¹⁰

ENDS

* There are several forms of SMA that have different genetic causes and a wide spectrum of how severely children and adults are affected. The most common form is known as ‘5q SMA’; the term ‘5q’ refers to its genetic cause and includes SMA Types 1, 2, 3 and 4.⁹

About the SMN2 gene
Spinal muscular atrophy is caused by a mutation in the survival motor neuron 1 (SMN1) gene. This gene is responsible for producing survival motor neuron (SMN) protein, which maintains the health and normal function of motor neurons. In individuals with SMA, both copies of the SMN1 gene are mutated, leading to decreased production of functional SMN protein. Without an adequate amount of functional SMN protein, motor neurons in the spinal cord will be lost, preventing the muscles from receiving proper signals from the brain which results in muscle atrophy.^11,12

All individuals with spinal muscular atrophy have at least one additional SMN gene, known as SMN2. The SMN2 gene has a similar structure to SMN1, but only a small amount (10%) of the SMN protein it produces is fully functional. This low level of SMN protein is not effective enough to sustain the survival of motor neurons in the CNS.^11,12

The number of SMN2 genes may vary, and a higher SMN2 copy number is associated with less-severe symptoms of spinal muscular atrophy. Nevertheless, the disease has a wide range of symptoms, and it is difficult to predict severity based on the number of SMN2 copies alone.^11,12