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

Symptomatic Type I, II or IIIa spinal muscular atrophy (SMA)

Initial treatment - 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

Patient must have experienced at least two of the defined signs and symptoms of SMA type I, II or IIIa prior to 3 years of age; AND

The treatment must not be in combination with PBS-subsidised treatment with risdiplam for this condition; 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 18 years of age or under.

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.

Defined signs and symptoms of type II SMA are:

i) Onset between 6 and 18 months; and

ii) Failure to meet or regression in ability to perform age-appropriate motor milestones; or

iii) Proximal weakness; or

iv) Weakness in trunk righting/derotation; or

v) Hypotonia; or

vi) Absence of deep tendon reflexes; or

vii) Failure to gain weight appropriate for age; or

viii) Any active chronic neurogenic changes; or

ix) A compound muscle action potential below normative values for an age-matched child.

Defined signs and symptoms of type IIIa SMA are:

i) Onset between 18 months and 3 years 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.

Application for authorisation of initial treatment must be in writing 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) specification of SMA type (I, II or IIIa); and

(ii) sign(s) and symptom(s) that the patient has experienced; and

(iii) patient's age at the onset of sign(s) and symptom(s).