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

Pre-symptomatic spinal muscular atrophy (SMA)

Initial treatment with this drug of pre-symptomatic spinal muscular atrophy (SMA)

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

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 have genetic confirmation that there are 1 to 2 copies of the survival motor neuron 2 (SMN2) gene; AND

The condition must be pre-symptomatic; AND

The treatment must be given concomitantly with best supportive care for this condition; 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)

The quantity of drug and number of repeat prescriptions prescribed is to be in accordance with the relevant 'Note' attached to this listing.

The approved Product Information recommended dosing is as follows:

(i) 16 days to less than 2 months of age: 0.15 mg/kg

(ii) 2 months to less than 2 years of age: 0.20 mg/kg

(iii) 2 years of age and older weighing less than 20 kg: 0.25 mg/kg

(iv) 2 years of age and older weighing 20 kg or more: 5 mg

In this authority application, state which of (i) to (iv) above applies to the patient. Based on (i) to (iv), prescribe up to:

1 unit where (i) applies;

2 units where (ii) applies;

3 units where (iii) applies;

3 units where (iv) applies.