Metachromatic leukodystrophy
Metachromatic leukodystrophy (MLD) is a rare inherited condition that causes nerve damage and is estimated to affect less than 1 of 100,000 live births. In its early-onset form, MLD causes substantial disability, high caregiver burden, and results in premature mortality.
As a part of the Government of Canada’s National Strategy for Drugs for Rare Diseases, Canada’s Drug Agency convened and supported an advisory panel that developed pan-Canadian guidance and recommendations for newborn screening. The guidance included a recommended pan-Canadian list of conditions for newborn screening, as well as processes and criteria to inform the addition and reassessment of conditions to the recommended pan-Canadian newborn screening list.
In response to the advisory panel’s guidance, and as a way to pilot the recommended process for adding a condition to the pan-Canadian newborn screening list of conditions, Canada’s Drug Agency will:
- conduct an evidence review on the harms and benefits of newborn screening for MLD
- provide evidence-informed recommendations to senior decision-makers on whether MLD should be added to the recommended pan-Canadian newborn screening list of conditions.
Open Call for Patient and Clinician Input
We are welcoming patient and clinician input for our review of newborn screening for early-onset MLD. The input we receive will be published in full on our website and used to inform our evidence review. This input, along with the evidence review, will be provided to our Health Technology Expert Review Panel to support their deliberations as they develop a recommendation on whether to add MLD to the recommended pan-Canadian newborn screening list.
This feedback opportunity is open until July 18, 2025.
