Progression of Spinal Cord Disease in Adult Men With Adrenoleukodystrophy.

This study presents the longest systematic prospective follow-up of spinal cord disease in adult male ALD patients to date. Standardized yearly quantitative data collection included scoring of the EDSS, SSPROM, 6-min walking test (6MWT), urological and quality of life questionnaires and vibration sense of the hallux. Progression rates were compared between patients with mild (EDSS ≤ 2.5) and moderate to severe (EDSS > 2.5) disability over a period of 7 years. Data from 79 patients was included. EDSS, SSPROM and 6MWT showed significant disease progression over time. The general progression pattern was linear. Stratified by disease severity, the increase in EDSS was 0.1 points per year in the low EDSS group and 0.2 points per year in the higher EDSS group. SSPROM decreased by -0.7 points per year in the low EDSS group and by -1.9 points per year in the higher EDSS group. 6MWT decreased by -9.3 m/year in the low EDSS group and by -18.2 m/year in the higher EDSS group. The rate of progression in patients with relatively severe disability was higher than in patients with mild disability. Clinical trials will therefore observe effects more rapidly in patients with more advanced disease.