Adrenoleukodystrophy

Adrenoleukodystrophy (ALD) is a rare inherited condition that affects about 1 in 17,000 babies. It can cause serious problems with the brain, nerves and hormone-producing glands. Some children become seriously ill in early childhood, while other people develop symptoms later in life.

Newborn screening may help identify babies with ALD before symptoms appear. This could allow babies to be monitored closely and receive treatment at the right time if needed. Newborn screening for ALD is already used in some countries, including parts of the United States and the Netherlands.

The UK National Screening Committee (UK NSC) does not currently recommend newborn screening for ALD. Reviews carried out in 2017 and 2021 found that there was not enough evidence to support a full review of screening. The UK NSC now wants to find out whether new research has become available.

This evidence map will find how many studies there are on three questions:
1. What evidence is there on how good tests are finding ALD in newborns?
2. What evidence is there on the benefits and harms of treating ALD that is found through screening?
3. What evidence is there on whether screening or treatment / surveillance of ALD is good value for money?

The results will give an up-to-date picture of what is known about screening for ALD in newborns. They will also show where more research is needed. This information will help the UK NSC decide if a more detailed review should be carried out.