X-ALD discordant phenotypes biomarkers
Problema a solucionar
X-linked adrenoleukodystrophy (X-ALD) is a rare and progressive pathology caused by an inborn error of β-oxidation. Early detection of the pathology and its expression is considered crucial, especially in the case of lethal childhood cerebral adrenoleukodystrophy (ccALD), which can be fatal in 5-10 years if left untreated.
Tecnologia
In-vitro analysis method for the classification of the phenotype of the patient with X-ALD, allowing discrimination in 100% of the cases according to whether the patient has ccALD or (adrenomyeloneuropathy) Based on the use of 3 highly accurate lipid biomarkers, which allow the diagnosis and stratification of X-ALD patients, as well as the prediction or monitoring of the response or efficacy to a given medical treatment. This opens a window for the development of diagnostic kits, especially as an improvement in the established newborn screening which currently cannot differentiate between phenotypes, the description of new pathophysiological mechanisms and, therefore, the design of new therapeutic strategies.
Autors
Aurora Pujol
Technology Readiness Level
TRL5
Què busquem?
Co-development or investment