Neurofilament Light and Its Association With CNS Involvement in Patients With Classic Infantile Pompe Disease.
Mackenbach MJ, Willemse EAJ, van den Dorpel JJA, van der Beek NAME, Díaz-Manera J, Rizopoulos D, Teunissen C, van der Ploeg AT, van den Hout JMP
Neurology, 2023 Jun 19
Abstract
Enzyme replacement therapy (ERT) has substantially improved the outcome of classic infantile Pompe disease, an inheritable muscle disease previously fatal at infancy. However, under treatment, patients develop white matter abnormalities (WMA) and neurocognitive problems. Therefore, upcoming therapies also target the brain. Currently biomarkers reflecting CNS involvement are lacking. We aimed to study the association of Neurofilament Light and CNS involvement.