OBJECTIVES: Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by mutations or deletions in the Survival Motor Neuron (SMN1) gene. The most severe form is type 1, characterized by early onset of clinical signs (0-6 months) while in type 2 signs occur at 7-18 months. Unlike type 1, type 2 patients achieve the ability to sit unsupported, but never the ability to walk independently. In type 3 (onset after 18 months), independent ambulation is achieved but can be subsequently lost. SMA is a complex disorder involving different healthcare specialists; therefore, a multidisciplinary approach is a key element for its management. The consequences of the disease on patients and caregivers are relevant. A new treatment, nusinersen, is available and is expected to positively impact SMA management. The aim of our research was to estimate the burden of SMA in Italy in the pre-nusinersen era.

METHODS: The contribution of experts in SMA was requested to describe type, frequency and cost of resources absorbed in caring for SMA. A disease subtype-specific questionnaire was implemented (type 1-3) to get information on the experience of three clinicians responsible for SMA centers in the north, center and south of Italy. Data were collected according to respiratory, gastrointestinal-nutritional and orthopedic care. A mean annual direct healthcare costs of SMA patients in Italy was calculated.

RESULTS: The main cost drivers are respiratory care for type 1 and orthopedic care for type 2 and 3 patients. On an annual basis, the highest mean cost was estimated for SMA type 1, and progressively decreasing in SMA 2 and 3. Given the differentiated life expectancy by type, on a lifetime basis type 2 and 3 patients incur more costs than those with type 1.

CONCLUSIONS: The economic burden of SMA is relevant, with nature and amount of resources being dependent on disease type.