Early Detection Saves Lives
Metachromatic Leukodystrophy (MLD) is a rare, serious inherited disease that affects the brain and the peripheral nervous system. Without treatment, MLD leads to neurodegeneration and, in most cases, premature death. However, when identified early—before symptoms appear— treatment can make a huge difference and alters the course of the disease.
What is Newborn Screening and why it matters?
Newborn screening (NBS) is a public health program that checks infants shortly after birth for serious treatable conditions with a simple blood test. Adding MLD to routine newborn screening panels would allow affected children to receive early diagnosis and timely access to therapy, including gene therapy and haematopoietic stem cell transplantation, before irreversible damage occurs.
MLD progresses rapidly once symptoms begin, particularly in the late infantile and early juvenile forms. By the time clinical signs are visible, treatment options are significantly less effective. Early diagnosis through newborn screening is critical to offering affected patients the best possible outcome.
Progress and Pilot Programs
Several regional pilot programs around the world – Germany, Austria, USA, Italy – are already testing newborns for MLD (Fig. 1 and 2). These programs are helping refine testing methods, assess cost-effectiveness, and build the case for national implementation. Norway has taken the lead and is the first country to officially include MLD in its national newborn screening program.
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.
European consensus recommendations on the management of NBS-identified MLD patients
To guide the monitoring and management of newborn screening identified MLD patients, we established consensus-based recommendations. These recommendations are published and can be accessed by clicking here.
The Path Forward: Advocacy and Implementation
Despite scientific and clinical readiness, MLD is not yet universally included in newborn screening panels. Families, clinicians, and patient organizations are advocating for:
- Broad implementation of MLD newborn screening at national levels.
- Policy change to integrate MLD into standard NBS guidelines.
- Increased awareness among healthcare providers and the general public.
Questions, remarks, or suggestions? Please let us know: MLDinitiative@amsterdamumc.nl
Our consensus-based recommendations are published
