The SJD Barcelona Children’s Hospital leads a promising new study on oral treatment for childhood cerebral adrenoleukodystrophy

An international research team, led by the SJD Barcelona Children's Hospital and the SJD Research Institute has presented their preliminary findings from a pioneering clinical trial of leriglitazone, the first oral treatment for childhood cerebral adrenoleukodystrophy (CCALD). This is a rare and severe genetic disease that affects the myelin sheath, the substance covering and protecting nerve fibres in the brain. Until now, therapeutic options were limited to the likes of bone marrow transplant, for example, but results from this study—entitled NEXUS—are opening new avenues for treatment.

After a 24-week treatment period with leriglitazone, all patients showed stabIlised symptoms, and, in 45% of cases, a slowing of brain lesion progression. Moreover, there were no serious adverse effects associated with the drug, further reinforcing its safety. ‘For now, the medication is not intended to be a substitute for stem cell transplant or gene therapy, but rather a therapeutic option that can temporarily stabilise the disease and offer a window of opportunity for curative treatment when the perfect donor becomes available,’ highlights Dr Àngels García Cazorla, Head of the Metabolic Diseases Unit at the SJD Barcelona Children’s Hospital.

Published in eClinicalMedicine (The Lancet Discovery Science), study leaders stress the importance of early detection of the disease, which is already beginning to be included in some neonatal screening tests. The project, sponsored by the Catalan biotechnology firm Minoryx Therapeutics, will continue monitoring the patient cohort for another 96 weeks. The research team is confident that this line of research could be a turning point in the treatment of this severe neurometabolic disease.