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. 2025 Jul 16;11(3):53.
doi: 10.3390/ijns11030053.

Cost-Effectiveness of Newborn Screening for X-Linked Adrenoleukodystrophy in the Netherlands: A Health-Economic Modelling Study

Rosalie C Martens  1   2   3 , Hana M Broulikova  4 , Marc Engelen  5 , Stephan Kemp  3   6 , Anita Boelen  1   3   7 , Robert de Jonge  3   8   9 , Judith E Bosmans  4 , Annemieke C Heijboer  1   2   3   7
Affiliations

Cost-Effectiveness of Newborn Screening for X-Linked Adrenoleukodystrophy in the Netherlands: A Health-Economic Modelling Study

Rosalie C Martens et al. Int J Neonatal Screen. .

Abstract

X-linked adrenoleukodystrophy (ALD) is an inherited metabolic disorder that can cause adrenal insufficiency and cerebral ALD (cALD) in childhood. Early detection prevents adverse health outcomes and can be achieved by newborn screening (NBS) followed by monitoring disease progression. However, monitoring is associated with high costs. This study evaluates the cost-effectiveness of NBS for ALD in The Netherlands compared to no screening using a health economic model. A decision tree combined with a Markov model was developed to estimate societal costs, including screening costs, healthcare costs, and productivity losses of parents, and health outcomes over an 18-year time horizon. Model parameters were derived from the literature and expert opinion. A probabilistic sensitivity analysis (PSA) was performed to assess uncertainty. The screening costs of detecting one ALD case by NBS was EUR 40,630. Until the age of 18 years, the total societal cost per ALD case was EUR 120,779 for screening and EUR 62,914 for no screening. Screening gained an average of 1.7 QALYs compared with no screening. This resulted in an incremental cost-effectiveness ratio (ICER) of EUR 34,084 per QALY gained for screening compared to no screening. Although the results are sensitive to uncertainty surrounding costs and effectiveness due to limited data, NBS for ALD is likely to be cost-effective using a willingness-to-pay (WTP) threshold of EUR 50,000- EUR 80,000 per QALY gained.

Keywords: Markov model; adrenoleukodystrophy; cost–effectiveness; newborn screening; quality-adjusted life-years.

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Conflict of interest statement

Stephan Kemp participates in advisory boards for ALD Connect (unpaid), the European Leukodystrophy Association (unpaid), Alex, The Leukodystrophy Charity (unpaid) and the United Leukodystrophy Foundation (unpaid). Marc Engelen is supported by a Vidi grant from ZonMW, received unrestricted research grants from Spur Therapeutics and Minoryx, is PI for the CYGNET and PROPEL studies sponsored by Spur Therapeutics and received consulting fees from Spolia (payable to institution). Rest of the authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Decision tree initial NBS versus no screening with probabilities. Blue square: decision node; green circle: chance node; red triangle: outcome node.
Figure 2
Figure 2
Schematic Markov model disease progression ALD. ALD adrenoleukodystrophy; cALD cerebral ALD; HSCT hematopoietic stem cell transplantation; AI adrenal insufficiency.
Figure 3
Figure 3
Difference from ICER in the main analysis.
Figure 4
Figure 4
Cost–effectiveness plane of screened versus unscreened.
Figure 5
Figure 5
Cost–effectiveness acceptability curve of different WTP thresholds.
See this image and copyright information in PMC

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