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Onasemnogene abeparvovec, sold under the brand name Zolgensma among others, is a gene therapy used to treat spinal muscular atrophy, a disease causing muscle function loss in children. It involves a one-time infusion of the medication into a vein. It works by providing a new copy of the survival of motor neuron (SMN) gene that produces the SMN protein.
Read the full article on WikipediaSpinal muscular atrophy (SMA) Clinical criteria: Treatment Phase: Use in a patient untreated with disease modifying therapies for this condition The condition must have genetic confirmation of 5q homozygous deletion of the survival motor neuron 1 (SMN1) gene; OR The condition must have genetic confirmation of deletion of one copy of the SMN1 gene in addition to a pathogenic/likely pathogenic variant in the remaining single copy of the SMN1 gene, AND Patient must have experienced at least two of the defined signs/symptoms of Type 1 SMA specified below; OR The condition must be pre-symptomatic SMA, with genetic confirmation that there are 1 to 2 copies of the survival motor neuron 2 (SMN2) gene, AND The treatment must not be a PBS-subsidised benefit where the condition has progressed to a point where invasive permanent assisted ventilation (i.e. ventilation via tracheostomy tube for at least 16 hours per day) is required in the absence of potentially reversible causes, AND The treatment must be given concomitantly with best supportive care for this condition. Treatment criteria: Must be treated by a specialist medical practitioner experienced in the diagnosis and management of SMA associated with a neuromuscular clinic of a recognised hospital in the management of SMA; or in consultation with a specialist medical practitioner experienced in the diagnosis and management of SMA associated with a neuromuscular clinic of a recognised hospital in the management of SMA, AND Must be treated in a treatment centre that is each of: (i) recognised in the management of SMA, (ii) accredited in the use of this gene technology by the relevant authority, (iii) will(has) source(d) this product from an accredited supplier, as specified in the administrative notes to this listing, AND Patient must be undergoing treatment with this pharmaceutical benefit once only in a lifetime, AND Patient must not be undergoing treatment with this pharmaceutical benefit through this listing where prior treatment has occurred with any of: (i) nusinersen, (ii) risdiplam. Population criteria: Patient must be no older than 9 months of age, AND Patient must have symptomatic Type 1 SMA; OR Patient must have pre-symptomatic SMA. The authority application must be made in writing and must include: (1) details of the proposed prescription; and (2) a completed authority application form relevant to the indication and treatment phase (the latest version is located on the website specified in the Administrative Advice). Prescribing Instructions: In the relevant PBS Authority Application form, specify the following: (i) the SMA type being treated: symptomatic Type 1 SMA, or, pre-symptomatic SMA; (ii) for Type 1 SMA, the signs/symptoms that the patient has experienced, together with the patient's age at the onset of these signs/symptoms. State the weight of the patient in kilograms and request the appropriate product pack presentation with respect to the mix of 5.5 mL and 8.3 mL vials. Confirm that genetic testing has been completed to demonstrate the following in support of an SMA diagnosis: (i) 5q homozygous deletion of the survival motor neuron 1 (SMN1) gene; or (ii) deletion of one copy of the SMN1 gene in addition to a pathogenic/likely pathogenic variance in the remaining single copy of the SMN1 gene. If the condition is pre-symptomatic SMA, confirm that there is genetic test finding that substantiates the number of SMN2 gene copies determined by quantitative polymerase chain reaction (qPCR) or multiple ligation dependent probe amplification (MLPA). Quote the date, pathology provider name and any unique identifying serial number/code that links the genetic test result to the patient. Defined signs and symptoms of type I SMA are: i) Onset before 6 months of age; and ii) Failure to meet or regression in ability to perform age-appropriate motor milestones; or iii) Proximal weakness; or iv) Hypotonia; or v) Absence of deep tendon reflexes; or vi) Failure to gain weight appropriate for age; or vii) Any active chronic neurogenic changes; or viii) A compound muscle action potential below normative values for an age-matched child.
“SMA is a neuromuscular disorder caused by a mutation in the SMN1 gene, which leads to a decrease in SMN protein, a protein necessary for survival of motor neurons. Onasemnogene abeparvovec is a biologic medication consisting of AAV9 virus capsids that contains a SMN1 transgene along with synthetic promoters.”
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