In various countries, newborn screening (NBS) pilots are currently rolled out. The technical (biochemical) aspects of newborn screening in MLD are relatively well understood. This is in contrast to the clinical implications. There are many uncertainties and concerns about how to follow-up and possibly treat children identified by NBS. Particularly because 1) predicting the (very heterogeneous) phenotype is still difficult and not fully understood, and 2) therapies might be beneficial but have risks too. For this reason, it was decided that we should discuss NBS-identified cases on an individual level in an international expert panel.
If you face an NBS-identified MLD patient, please contact us.
An ad hoc digital meeting will be set up with experts – (pediatric) neurologists, metabolic physicians, transplant specialists – from the MLD initiative. The referring physician will briefly present the case and shares: genotype, arylsulfatase A activity, urinary sulfatide level, and family history if available. A plenary discussion and consensus-based advice will follow. The MLDi coordinates the organization of the ad hoc meetings.
Please note that the MLDi organizes similar expert panel discussions regarding treatment eligibility.
Questions, remarks, or suggestions? Please let us know: MLDinitiative@amsterdamumc.nl