Newborn Screening, the Key to Fighting MLD?

This video was funded by Orchard Therapeutics.

This video features insights from leading experts on metachromatic leukodystrophy (MLD), a rare and progressive neurodegenerative lysosomal storage disorder.

The discussion highlights:

• MLD’s pathophysiology: deficiency of the ARSA enzyme due to ARSA gene mutation leads to accumulation of sulfatides in the central nervous system, peripheral nervous system, and organs. This causes progressive motor and cognitive deterioration, with loss of motor and neurocognitive functions, and ultimately death.
• Clinical presentation of MLD across its forms: late infantile, early and late juvenile, and adult-onset.
• The critical importance of early diagnosis through biochemical and genetic testing, alongside newborn screening (NBS) initiatives, which can significantly improve outcomes.
• Current advancements in NBS, including a large-scale pilot study in Germany, and a growing consensus on its importance and global adoption at the national level.
• Emphasis on timely intervention and family-centred care, supported by international EU and US consensus guidelines to enhance diagnostic, therapeutic, and support pathways.

This comprehensive overview underscores the urgency of early detection and intervention for MLD, paving the way for transformative patient outcomes.

Timestamps: 

• 00:33 – MLD a Rare Hereditary Disorder
• 03:31 – Diagnosing MLD
• 05:30 – Treatment May Be Available if MLD is Diagnosed Early
• 06:49 – NBS Pilots: A United Community
• 08:12 – MLD, An Excellent Candidate for NBS
• 10:11 – Germany: A Large Prospective Screening Study
• 12:24 – Experts Support the Implementation of NBS for MLD

1. Consultant Paediatric Neurologist, Royal Manchester Children’s Hospital, UK
2. Pharma Business Development, ARCHIMEDlife, Vienna, Austria
3. Genetic Counselor, Public Health Genetics and Rare Disease Consultant, and Founder and CEO Connetics Consulting, Minneapolis, Minnesota, USA

IE-NoP-2500004 | DOP: Jan 2025