A research project by Cecilie Videbæk
X-linked adrenoleukodystrophy (XALD) is the most common leukodystrophy with an incidence around 1 in 17,000. It is the result of pathogenic variations in the ABCD1 gene resulting in an accumulation of very long-chain fatty acids in plasma and tissues. The most severe form is called cerebral ALD (cALD) which is caused by fatal, cerebral demyelination. If onset of cALD is detected in early stages, patients can be treated by hematopoietic stem transplantation to prevent further disease progression. Therefore, some countries have introduced newborn screening (NBS) programs for XALD to secure proper surveillance of XALD patients, but in Denmark this has not yet been introduced.
This project is a three-part study that focuses on XALD and the introduction of NBS. The first part describes the Danish XALD population in regard to genotype, phenotype, age at debut and diagnosis, treatment given (if applicable), patient surveillance and pedigree. The first part also aims to identify XALD patients that are not currently known to Centre for Inherited Metabolic Diseases. The second part aims to investigate the perception by presymptomatic XALD patients and their families’ perception of the surveillance program for presymptomatic patients and how it impacts on quality of life. The third part aims to develop and investigate feasibility of newborn screening for XALD using stored filter paper blood spot samples from patients and carriers as well as a control cohort.