Leukodystrophies: newborn screening is a fundamental right for children

In an opinion piece published in Le Monde on January 14, 2026, Guy Alba reminds us that early care can prevent the progression of two diseases.

Every week in European Union (EU) countries, around ten children are born with leukodystrophy. These genetic diseases cause severe neurological disabilities and too often lead to death. Among them, several are affected by adrenoleukodystrophy (ALD), while others have metachromatic leukodystrophy (MLD). Yet in the vast majority of EU countries, these two diseases are not screened for at birth. The diagnosis therefore comes too late to prevent the disease progressing, even though it could be made at birth. This is a worrying delay in Europe, especially as the United States has just added ALD to its federal newborn screening panel in February 2016 and MLD in December 2025. Even today, families are still facing what is often described as “the policy of the first child saving the second.”
In the case of MLD, Alice [the anonymity of the children’s families has been deliberately preserved] was diagnosed too late and passed away, while her younger sister, Coline, who was screened early, was able to receive gene therapy treatment in 2020 and is doing well. For ALD, Malone was diagnosed too late for a transplant to be considered. His younger brother, Maxence, who was screened in time, can still be saved and is expected to undergo a bone marrow transplant very soon.
Newborn screening makes it possible to act before symptoms appear, which changes everything. The time required to establish a diagnosis after the first signs is about one year: far too late for effective treatment. Children like Coline, Augustin, and Eléonore were saved because they were diagnosed before symptoms developed, whereas their siblings, Nathanaël, Matthieu, Malone, and Alice, did not have that chance.

Ending the long diagnostic odyssey

For ALD, nearly 80% of boys will develop adrenal insufficiency at some point in their lives. If left untreated, it can lead to complications, including potentially life-threatening dehydration. Screening for this condition at birth allows for the early initiation of a simple replacement therapy and close medical follow-up. If the disease late progresses to its cerebral form, timely intervention with a bone marrow transplant then becomes possible.

What about other leukodystrophies? When no treatment is yet available, newborn screening remains essential. It puts an end to the long diagnostic odyssey, facilitates access to clinical trials, allows early initiation of supportive care such as physical therapy, paves the way for family screening, and fuels medical research. It is a fundamental right for children and their families. Yet in Europe, very few countries currently screen for adrenoleukodystrophy and metachromatic leukodystrophy. For MLD, only one European country, Norway, has implemented effective newborn screening, while pilot studies are being conducted in Germany, Austria, the United Kingdom, Italy, Saudi Arabia, and France. Similarly, for ALD, while nearly all of the United States (46 out of 50 states) already screens for the disease, only the Netherlands, Spain, and the Emilia-Romagna region of Italy have incorporated screening into their programs. Pilot studies are being conducted in Europe and Asia. In France, ALD is not currently included in a pilot study, but the conditions are in place to implement newborn screening. The European Leukodystrophy Association submitted a referral dossier that was accepted by the French National Authority for Health (HAS) in early July 2024, for ALD and MLD. The results of the evaluation are expected by the end of the year. France could become the first country in Europe to screen for both diseases.

Substantial savings

Science is ready, politics must follow. Newborn screening for ALD is possible through measurement of C26:0-LysoPC, a biomarker that is elevated from birth, with a test costing €1. Screening for MLD is based on measuring sulfatides and the activity of the ARSA, whose mutation of the gene causes the disease, with very few false negatives. These two severe leukodystrophies now have effective treatments when administered very early, even the onset of symptoms including stem cell transplants or gene therapy. Economic analyses also show that newborn screening leads to substantial savings compared with the very high costs of late-stage care. For ALD, a study conducted in the United Kingdom in 2018 estimated that implementing screening would result in an additional cost of £402,000 (approximately €464,000), but that the savings made on healthcare, social assistance, and education costs over a lifetime would instead result in saving of £3.04 million per year.

We call on the public authorities across European countries make a rapid and courageous decision. It is now essential to include ALD and MLD in newborn screening program and to strengthen the resources of the centers responsible for implementing them. Every month of delay exposes children to late diagnosis and to irreversible consequences. Building a more ambitious newborn screening means recognizing every child’s right to be protected from birth.
It means affirming that medical knowledge must be placed at the service of life. And it means collectively choosing to no longer leave a single child without the chance they deserve.