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.
What this paper adds: Untreated patients with spinal muscular atrophy had lower total financial costs than treated patients. Total financial costs were lower for treated patients identified by early screening than for treated patients identified after symptom onset. Direct financial costs excluding treatment were much lower in treated patients identified by early screening. Hospitalization costs were much lower in patients identified by early screening.
COSTO ECONÓMICO Y CALIDAD DE VIDA DE PACIENTES CON ATROFIA MUSCULAR ESPINAL IDENTIFICADOS POR SÍNTOMAS O CRIBADO NEONATAL: OBJETIVO: Comparar los costos financieros sociales y la calidad de vida (QoL) de pacientes no tratados con atrofia muscular espinal (AME) y pacientes tratados, identificados porque presentaron síntomas o fueron identificados mediante pruebas tempranas (cribado de hermanos o recién nacidos). MÉTODO: Se utilizaron datos de dos fuentes diferentes: datos recopilados prospectivamente en pacientes no tratados de 2016 a 2018 y datos recopilados durante un estudio de seguimiento prospectivo de 2018 a 2021. Los pacientes o sus cuidadores completaron un cuestionario que incluía preguntas sobre cuestiones médicas y no médicas directas. -costos médicos, costos indirectos no médicos y calidad de vida relacionada con la salud. RESULTADOS: Los datos (mediana; rango) estaban disponibles para 149 pacientes (93 sin tratamiento - 10 años; 2 años - 59 años), 42 pacientes (6 años 3 meses; 9 meses - 58 años) tratados después de presentar síntomas y 14 pacientes (1 año 7 meses; 5 meses-2 años) tratados tras un diagnóstico precoz. Los costos totales fueron menores en los pacientes no tratados debido al alto costo de los medicamentos utilizados en los pacientes tratados. Los costos fueron más bajos para los pacientes tratados que fueron identificados mediante pruebas tempranas que para los pacientes tratados identificados porque presentaban síntomas. En todos los grupos, los pacientes con dos copias de SMN2 tuvieron costos más altos que aquellos con más copias. INTERPRETACIÓN: La identificación y el tratamiento tempranos de los pacientes ofrecen la oportunidad de reducir los costos sociales totales de la AME, en lugares donde los tratamientos están disponibles para pacientes presintomáticos y postsintomáticos.
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