National Trends in MRI Screening and Transplant for US Adult Men With X-Linked Adrenoleukodystrophy

This is the authors' abstract. We don't add key points for this paper.

X-linked adrenoleukodystrophy (ALD), a neurodegenerative leukodystrophy, is caused by pathogenic variants in ABCD1, a peroxisomal transporter. Adult men can be affected by several disease subtypes, including adrenal insufficiency, neuropathy (adrenomyeloneuropathy, AMN), or inflammatory cerebral demyelination (cALD). Guidelines for ALD in adult men suggest yearly screening brain MRI and consideration of treatment (hematopoietic stem cell transplant, HSCT) for cALD. However, the adoption and extent of MRI screening and use of HSCT are unknown. Our aim was to characterize trends in MRIs and HSCT in adult men with ALD.