Listing of Pharmaceutical Benefits (NHL) - Schedule 4 part 1

Pre-symptomatic spinal muscular atrophy (SMA)

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; AND

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 not have received PBS-subsidised gene therapy; AND

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) details of the proposed prescription; 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)