AIM: To compare the societal financial costs and quality of life (QoL) of untreated patients with spinal muscular atrophy (SMA) and treated patients identified because they presented symptoms or were identified by early testing (sibling or newborn screening). METHOD: Data from two different sources were used: data collected prospectively in untreated patients from 2016 to 2018 and data collected during a prospective follow-up study from 2018 to 2021. Patients or their caregiver completed a questionnaire that included questions on direct medical and non-medical costs, indirect non-medical costs, and health-related QoL. RESULTS: Data (median; range) were available for 149 patients (93 untreated - 10 years; 2 years-59 years), 42 patients (6 years 3 months; 9 months-58 years) treated after presenting with symptoms, and 14 patients (1 year 7 months; 5 months-2 years) treated after early diagnosis. Total costs were lower in untreated patients due to the high cost of drugs used in treated patients. Costs were lower for treated patients who were identified by early testing than for treated patients identified because they presented with symptoms. In all groups, patients with two SMN2 copies had higher costs than those with more copies. INTERPRETATION: Early patient identification and treatment offer the opportunity to reduce the total societal costs of SMA where treatments are available for presymptomatic and postsymptomatic patients.

Original publication

DOI

10.1111/dmcn.15286

Type

Journal article

Journal

Dev Med Child Neurol

Publication Date

08/06/2022