Read ‘The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy’ research article.
The article discusses the development of ‘a risk assessment framework that combines genetic data and biochemical measurements (LPC(26:0) levels)’ for ALD diagnoses. The Grey Zone Project aims to improve diagnostics. It’s also about providing families with clarity during critical moments, minimizing unnecessary medical interventions, and ensuring that children who require monitoring receive it.
This research article will be used as part of our evidence to add ALD to the newborn screening programme in the UK. One of the concerns about NBS for ALD is unpredictability and identifying those who may not get symptoms until adulthood – this paper gives more certainty over prognosis/accurate diagnosis.
LinkedIn post by Dr Stephan Kemp: LinkedIn Grey Zone post
Research article: The Grey Zone Project: Risk‐Based Classification of ABCD1 Variants in X‐Linked Adrenoleukodystrophy
