Document ID: chunk:federal_register_of_legislation:F2025C00124:clause:3_1:p277
Version: federal_register_of_legislation:F2025C00124
Segment Type: clause
Provision Reference: sch 3 cl 1 (pt 277/476)
Character Range: 2585859–2593452

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 not be receiving invasive permanent assisted ventilation in the absence of a potentially reversible cause while being treated with this drug.
                                                                                                                                            Patient must be at least 19 years of age at the time of this authority application, but never claimed PBS subsidy for a disease modifying treatment during childhood; AND
                                                                                                                                            Patient must have SMA where the onset of signs/symptoms (at least one) of SMA first occurred prior to their 19thbirthday (SMA symptom onset after this age will be considered type IV SMA, which is not PBS‑subsidised).
                                                                                                                                            Must be treated by a specialist medical practitioner experienced in the diagnosis/management of SMA; OR
                                                                                                                                            Must be treated by a medical practitioner who has been directed to prescribe this benefit by a specialist medical practitioner experienced in the diagnosis/management of SMA; AND
                                                                                                                                            Patient must be undergoing initial PBS‑subsidised treatment for untreated disease ‑ prescribe up to 3 repeat prescriptions to enable dosing occurring at days: 0 (original prescription), 14 (repeat 1), 28 (repeat 2), 63 (repeat 3) (i.e. the loading doses); OR
                                                                                                                                            Patient must be undergoing initial PBS‑subsidised treatment, but the patient has initiated treatment via non‑PBS supply (e.g. clinical trial, sponsor compassionate access) ‑ prescribe zero repeat prescriptions where loading doses are complete; AND
                                                                                                                                            Patient must be undergoing concomitant treatment with best supportive care, but this benefit is the sole PBS‑subsidised disease modifying treatment.
                                                                                                                                            The authority application must be made in writing and must include:
                                                                                                                                            (1) a completed authority prescription form; 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).
                                                                                                                                            Signs and symptoms of spinal muscular atrophy in the context of this PBS restriction are:
                                                                                                                                            (i) Failure to meet or regression in ability to perform age‑appropriate motor milestones,
                                                                                                                                            (ii) Proximal weakness,
                                                                                                                                            (iii) Hypotonia,
                                                                                                                                            (iv) Absence of deep tendon reflexes,
                                                                                                                                            (v) Failure to gain weight appropriate for age,
                                                                                                                                            (vi) Any active denervation or chronic neurogenic changes found on electromyography,
                                                                                                                                            (vii) A compound muscle action potential below normative values for an age‑matched child.
                                                                                                                                            In this authority application, confirm:
                                                                                                                                            (1) the patient's medical history is consistent with a diagnosis of childhood onset spinal muscular atrophy,
                                                                                                                                            (2) which of the above (i to vii) (at least 1) were present during childhood,
                                                                                                                                            (3) the age of the patient (rounded to the nearest year) when the first sign/symptom was observed.
                                                                       C14370                                                               Spinal muscular atrophy (SMA)                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                         Compliance with Authority Required procedures
                                                                                                                                            Changing the prescribed therapy
                                                                                                                                            Patient must be undergoing a change