X-linked adrenoleukodystrophy (ALD) is a severe disease, ranging from the fatal cerebral inflammatory demyelinating form affecting boys (cALD) to the peripheral dying back axonopathy that affects adults (AMN). There are no effective therapies for AMN, and the cause of cALD is poorly understood.

The goal is to develop, validate, and use for treatment discovery, a new model of ALD. To accomplish this, the group will use the small genetic vertebrate model zebrafish, which has low costs and the ability to perform high-throughput screens that are unfeasible in other vertebrate systems. Zebrafish have the same genes as humans, including ABCD1, the gene responsible for ALD. The data shows that mutations in zebrafish ABCD1 cause ALD in zebrafish. The team is using the ALD zebrafish model to validate a new potential treatment for ALD, to understand this drug’s mechanism, and to understand the cause of cALD.

Project financed by ELA up to: 98 841 €