Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood. In observational studies of women with adrenoleukodystrophy, several clinical rating scales have been used to assess disease manifestations and capture differences between asymptomatic and symptomatic women. To facilitate development of treatments to address symptoms in women, there is a need to identify clinical outcome measures that can sensitively assess disease progression and treatment responses. The goals of this scoping review were to: (1) identify and review clinically relevant assessment scales that have been utilized to capture disease manifestations in women with adrenoleukodystrophy, and (2) provide recommendations on key objectives for further research.