MLD is a neurodegenerative disorder, that affects children at a very young age, leading to a premature death. In a pilot program (2021-2023) in which 109,259 newborns were screened for metachromatic leukodystrophy, blood-spot samples were obtained for analysis and three newborns with MLD were identified, which made presymptomatic treatment possible.
“This gene therapy shows a high efficacy, enabling an almost normal cognitive and motor development for the children, if it is applied in the presymptomatic stage of the disease”, says Lucia Laugwitz, MD, from the Paediatric Department at the University Hospital Tübingen. This success shows why it is important to implement MLD in the newborn screening.
Following the publication of this German pilot study, Norway was the first country to implement NGS (Next Generation Sequencing) for MLD on a national level. With hopefully more countries to follow soon.
Watch the video here.