SPINRAZA

New assessment.

Favourable opinion for reimbursement in the treatment of pre-symptomatic infants and children with genetically diagnosed 5q spinal muscular atrophy with 2 to 3 copies of the SMN2 gene.

What therapeutic improvement?

Therapeutic improvement in the treatment of pre-symptomatic infants and children with genetically diagnosed 5q spinal muscular atrophy with 2 to 3 copies of the SMN2 gene.

Role in the care pathway?

The treatment of patients with spinal muscular atrophy (SMA) is symptomatic and requires a multidisciplinary neurological, orthopaedic, respiratory, gastrointestinal, educational, psychological and social approach. Specialists from reference or expertise centres must coordinate the initiation and continuation of treatment, taking into consideration the following factors: treatment and non-treatment indications, conditions for discontinuation (respiratory function, patient or parent preference, poor tolerance, worsening of health status, lack of efficacy, etc.) and patients’ quality of life.

It has been established that treatment must be initiated as soon as possible, particularly in types 1 and 2 SMA in order to anticipate chest and lung complications (nocturnal hypoventilation, unproductive cough, rib cage under-development and deformity, risk of infections).

There is currently no treatment for the pre-symptomatic management of SMA, apart from ZOLGENSMA (onasemnogene abeparvovec) available via a compassionate use programme (ATU dated 15/05/2020), and having been granted an MA on 18/05/2020 in patients with 5q spinal muscular atrophy (SMA) with a bi-allelic mutation in the SMN1 gene and up to three copies of the SMN2 gene, which the Committee has not yet evaluated.

Role of the medicinal product in the care pathway

Considering:

• efficacy results suggesting a change in the natural course of the disease, particularly in terms of ventilation-free survival, survival and acquisition of motor functions, such as the capacity to sit without support;
• uncertainties with respect to the evolution of these patients, with a more favourable progression than in the absence of treatment, but without curing the disease;
• the intrathecal route of administration;
• the absence of data in patients with four or more copies of the SMN2 gene,

SPINRAZA is a first-line treatment in pre-symptomatic infants and children with genetically diagnosed 5q spinal muscular atrophy with 2 to 3 copies of the SMN2 gene.

Special recommendations

Due to the complexity of the management of this rare disease, the Committee reiterates that it recommends that decisions to initiate or discontinue treatment with SPINRAZA (nusinersen) be taken at multidisciplinary review meetings in neuromuscular diseases reference and expertise centres.