[Effectiveness and efficiency evaluation of neonatal screening for X-linked adrenoleukodystrophy]

Pedrosa Pérez L, Martín Saborido C, Imaz Iglesia I, Valcárcel Nazco C, Carmona Rodríguez M
Record ID 32018015639
Spanish
Original Title: Evaluación de la efectividad y eficiencia del cribado neonatal de adrenoleucodistrofia ligada al cromosoma X
Authors' objectives: To assess the effectiveness and cost-utility of implementing universal neonatal screening for X-ALD in Spain and to estimate its budgetary impact on the National Health System (NHS).
Authors' results and conclusions: Conclusions Newborn screening would enable the early diagnosis of the vast majority of cases. However, in the absence of screening, the proportion of cases detected at early stage remains very low. The implementation of universal newborn screening could increase by sevenfold the number of patients eligible for HSCT treatment. The introduction of newborn screening would result in cost savings and greater utility in terms of quality-adjusted life years from both the NHS and social perspectives, making its adoption in Spain an efficient strategy. The majority of cost savings stem from social costs. Effective implementation of newborn screening for X-ALD requires the development of national protocols for patient follow-up and treatment.
Authors' methods: A cost-utility analysis was conducted using a lifetime-horizon decision tree model. The model’s parameters were derived from a systematic review of the diagnostic effectiveness of the screening test, including sensitivity, specificity, and associated costs. From the NHS perspective, direct healthcare costs were considered, measured in 2024 euros. From the social perspective, additional disease-related costs (personal care, housing, other goods and services, transportation, educational support, and maintenance) that are not covered by the healthcare system, as well as opportunity costs for the patient and their caregivers, were included. A 3% annual discount rate was applied to both costs and outcomes. Deterministic and probabilistic sensitivity analyses were performed.
Details
Project Status: Completed
Year Published: 2025
URL for published report: https://hdl.handle.net/20.500.12105/26937
URL for additional information: https://redets.sanidad.gob.es/productos/buscarProductos.do?metodo=detalle&id=1331
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: Spain
MeSH Terms
  • Adrenoleukodystrophy
  • Neonatal Screening
  • Tandem Mass Spectrometry
  • Genetic Testing
  • Early Diagnosis
  • Infant, Newborn
  • Cost-Benefit Analysis
Keywords
  • X-linked adrenoleukodystrophy
  • X-ALD
  • Newborn screening
  • Economic evaluation
  • Tandem mass spectrometry
  • Adrenoleukodystrophy
Contact
Organisation Name: Agencia de Evaluacion de Tecnologias Sanitarias
Contact Address: Instituto de Salud "Carlos III", Calle Sinesio Delgado 6, Pabellon 4, 28029 Madrid, Spain. Tel: +34 9 1 822 2005; Fax: +34 9 1 387 7841;
Contact Name: Esther E. García Carpintero
Contact Email: eegarcia@isciii.es
Copyright: Agencia de Evaluacion de Tecnologias Sanitarias
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