On April 18th, 2023, the State Secretary of the Ministry of Health, Welfare and Sport of the Netherlands decided to add the metabolic disease ALD to the newborn screening program to identify boys with adrenoleukodystrophy. Screening will start on October 1st, 2023.
Most boys with adrenoleukodystrophy will develop severe damage to the brain or adrenal insufficiency. Early detection and timely treatment can prevent a dramatic outcome. In 2013, Dr. Stephan Kemp who specialized in ALD research, and the child neurologist Dr. Marc Engelen, submitted a request to the Health Council of the Netherlands to include adrenoleukodystrophy in the newborn screening program.
In 2015, the Health Council recommended that only boys be screened for adrenoleukodystrophy because the life-threatening events that are treatable, the endocrine and cerebral forms of adrenoleukodystrophy, occur almost exclusively in boys. This choice was unlike what is done in the United States, where both boys and girls can be screened for adrenoleukodystrophy in the states where the screening has been implemented.
The sex-specific screening in the Netherlands represented a huge challenge because it was never organized in any country before. A pilot study called the SCAN study (Screening for ALD in the Netherlands) was designed by the experts to investigate the feasibility of adding screening for adrenoleukodystrophy in only boys. For two years, from 2019 to 2021, the screening was tested and proved to be feasible.
A follow-up program was also designed, so that all boys diagnosed with adrenoleukodystrophy will be referred to Amsterdam UMC. The goal is to monitor early manifestation of the disease to provide lifesaving treatments when appropriate.
ALD becomes the 27th disease in the Dutch newborn screening program, and everything is being organized so its implementation can be effective on the October 1st starting date.
