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18 | InTouch AUTUMN 2023 mechanical chest physiotherapy and mechanical cough assistance. Sleep- disordered breathing can be treated with the nighttime use of continuous positive airway pressure. Surgery for scoliosis in individuals with SMA type 2 may be an option in those whose respiratory function is strong enough to be subsequently weaned from a ventilator after undergoing general anaesthesia. A power wheelchair and other equipment may increase independence and improve quality of life. Evaluation every six months or more frequently is recommended for symptomatic children to assess nutritional state, respiratory function, and orthopaedic status (spine, hips, and joint range of motion). with nusinersen. Furthermore, infants diagnosed prenatally or at birth who were treated with nusinersen showed 100% survival with no infant requiring ventilatory support. Nusinersen is given as an intrathecal injection, meaning it is delivered directly into the spinal fluid by way of a lumbar puncture. The recommended treatment regimen consists of 4 initial loading doses spaced out over 2 months, followed by a maintenance dose once every 4 months thereafter. Patients undergoing this treatment will be followed closely by their physician, who will be able to provide further details about its administration. of DNA encoding SMN protein. In an open-label study of 15 infants with SMA who received a one- time infusion of onasemnogene abeparvovec, all patients were alive and did not require a permanent ventilator at 20 months of age, whereas the historical rate of survival without ventilation was only 8%. In an extension study with approximately 5 years of follow-up, all patients who received the high- dose had maintained their previously required milestones. Onasemnogene abeparvovec is the most expensive of all SMA disease-modifying therapies. At the time of this printing, onasemnogene abeparvovec Further Information More information about spinal muscular atrophy and updates on current research can be found at the SMA Foundation website smafoundation.org SPINAL MUSCULAR ATROPHY The treatment for spinal muscular atrophy in New Zealand was largely limited to supportive therapy until funding for the disease-modifying therapy, nusinersen (aka Spinraza), was approved in 2022. At the time of this printing, nusinersen is funded for eligible patients aged 18 and under with SMA types 1, 2, or 3A. Disease-modifying therapy The treatment for spinal muscular atrophy in New Zealand was largely limited to supportive therapy until funding for the disease-modifying therapy, nusinersen (aka Spinraza), was approved in 2022. At the time of this printing, nusinersen is funded for eligible patients aged 18 and under with SMA types 1, 2, or 3A. Nusinersen is an antisense oligonucleotide that essentially corrects the less effective SMN2 gene by promoting the inclusion of exon 7, thus resulting in its ability to produce a more stable full-length SMN protein. Randomized placebo- controlled trials showed a significant and meaningful improvement in motor milestones of infants treated Risdiplam (aka Evrysdi) is a daily oral medication that works in a different way than nusinersen to achieve a similar outcome, which is the modification of SMN2 to produce an increased amount of functional SMN protein. Risdiplam acts as a pre-mRNA splicing modifier which corrects the splicing deficit of SMN2, promoting the inclusion of exon 7. Risdiplam has been approved for use in the US, Europe, and Australia, and at the time of this printing is being proposed for approval in New Zealand. Onasemnogene abeparvovec (aka Zolgensma) is a “one shot” gene replacement therapy that involves a single intravenous infusion of a complementary strand costs over $2 million USD and is not funded in New Zealand. However, selected patients under the age of two years who meet specific eligibility criteria may be able to receive the one-time treatment free of charge via Novartis’ global Managed Access Programme. A request to receive the gene therapy must be submitted by the treating physician on behalf of the patient.