Allogeneic hematopoietic stem cell transplantation (HSCT) is the only effective therapeutic intervention for boys with cerebral ALD. It can arrest the progression of cerebral demyelination provided that the procedure is performed at a very early stage of the disease, i.e., when affected boys are neurologically asymptomatic, or exhibit only minor symptoms.
For AMN, however, which represents 85% of ALD cases (males and females combined), no curative therapy is available.
In neurodegenerative diseases with slow progression and an unpredictable clinical course, it is very difficult to monitor the efficacy for new treatments. Available options to quantify myelopathy are limited due to a lack of robust clinically relevant outcome measures. Measures like the EDSS or the 6 minute walk test lack sensitivity to detect small changes in disease severity. Therefore trials require many participants and trial duration has to be long (years). With the aim to develop and validate new quantitative and sensitive outcome measures we are following >125 Dutch ALD patients in a large prospective study.
