Document ID: chunk:federal_register_of_legislation:F2025C00124:clause:3_1:p280
Version: federal_register_of_legislation:F2025C00124
Segment Type: clause
Provision Reference: sch 3 cl 1 (pt 280/476)
Character Range: 2606479–2613773

months. Document these re‑assessments in the patient's medical records.
                                                                                                                                            In undertaking comprehensive assessments, where practical, a clinically meaningful response assessment encompasses the patient's motor function as assessed using an instrument like the Revised Upper Limb Module (RULM), Hammersmith Functional Motor Scale ‑ Expanded (HFMSE) or 6‑minute walk test (6MWT), and the patient's quality of life including, but not limited to, level of independence. Quality of life may be informed by use of the SMA Health Index (SMA‑HI) or SMA Functional Rating Scale (SMAFRS).
                                                                       C15066                                                               Pre-symptomatic spinal muscular atrophy (SMA)                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                         Compliance with Written Authority Required procedures
                                                                                                                                            Initial treatment of pre-symptomatic spinal muscular atrophy (SMA) with 1 or 2 copies of the SMN2 gene - Loading doses
                                                                                                                                            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.
                                                                                                                                            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
                                                                                                                                            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 be given concomitantly with best supportive care for this condition; AND
                                                                                                                                            The treatment must not exceed four loading doses (at days 0, 14, 28 and 63) under this restriction; AND
                                                                                                                                            Patient must be untreated with gene therapy.
                                                                                                                                            Patient must be aged under 36 months prior to commencing treatment.
                                                                                                                                            Application for authorisation of initial treatment must be in writing (lodged via postal service or electronic upload) and must include:
                                                                                                                                            (a) a completed authority prescription form; and
                                                                                                                                            (b) a completed Spinal muscular atrophy PBS Authority Application Form which includes the following:
                                                                                                                                            (i) confirmation of genetic diagnosis of SMA; and
                                                                                                                                            (ii) a copy of the results substantiating the number of SMN2 gene copies determined by quantitative polymerase chain reaction (qPCR) or multiple ligation dependent probe amplification (MLPA)
                                                                       C15069                                                               Spinal muscular atrophy (SMA)                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                         Compliance with Authority Required procedures
                                                                                                                                            Continuing/maintenance treatment of either symptomatic Type I, II or IIIa SMA, or of a patient commenced on this drug under the pre-symptomatic SMA (1 or 2 copies of the SMN2 gene) listing
                                                                                                                                            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;