Research plan: Cost-effectiveness of newborn screening for X-linked adrenoleukodystrophy (ALD) in the Netherlands

Rosalie Martens, Marc Engelen, Stephan Kemp, Anita Boelen, Robert de Jonge, Judith Bosmans, Annemieke Heijboer

X-linked adrenoleukodystrophy (ALD) is an inborn metabolic disorder which can cause impairment of the adrenal glands and brain damage during childhood. At birth, affected males are asymptomatic, but later in life they can develop either adrenal insufficiency and/or cerebral ALD (cALD), with the highest risk of manifestation before the age of 18 years. If cALD is not identified and treated before onset of symptoms, treatment is ineffective and cALD can result in death. Therefore, including ALD in the newborn screening (NBS) program is of importance to prevent severe health outcomes. The aim of this study is to evaluate the cost-effectiveness of NBS for ALD in the Netherlands by comparing the costs and health outcomes of screening for ALD with the costs and health outcomes of not screening for ALD. This will be done by combining a decision tree of NBS and a Markov Model of the disease progression with a cycle length of 6 months and a time horizon of 18 year. Model parameters will be derived from literature and expert opinion. Both a healthcare- and societal perspective will be used. Health outcomes consist of life-years gained and Quality Adjusted Life Years (QALY) gained. Eventually, the incremental cost-effectiveness ratio (ICER) in Euros per QALY gained will be calculated.