Open Call for Patient and Clinician Input: Metachromatic Leukodystrophy

Canada’s Drug Agency welcomes patient and clinician input for the review of newborn screening for early-onset metachromatic leukodystrophy (MLD). The input we receive will be published in full on our website and used to inform the evidence review. This input, along with the evidence review, will be provided to our Health Technology Expert Review Panel (HTERP) to support their deliberations as they develop a recommendation on whether to add MLD to the recommended pan-Canadian newborn screening list.

Instructions and Consent

Individual submissions are welcome; however, if possible, we encourage submitting as a group (e.g., on behalf of an association, a health care professional group, or a patient group).

The consultation period will close on July 18, 2025.  

By submitting your written input to Canada’s Drug Agency, you or the organization you represent, agree to the full disclosure of the information. We will not edit or validate your feedback or review any references or links you include for accuracy or with respect to content. We reserve the right to refuse to post feedback, in whole or in part, that, in our sole discretion, is deemed to be unrelated to the issue under consultation; contains complaints and/or compliments about identifiable individuals; contains personal identifiers and/or other information that may identify a third party; and/or is abusive, obscene, harassing, threatening, or otherwise inappropriate.

All contributing individuals must complete the Conflict of Interest (COI) Declaration Form for Patients or the Conflict of Interest (COI) Declaration Form for Clinicians for your input to be accepted.  

If you have any questions about this consultation process, please email us. 

Patient Input Questions

If yes, please describe how you gathered the perspectives (e.g., by interviews, focus groups, or survey; personal experience; or a combination of these). Where possible, include when the data were gathered, if data were gathered in Canada or elsewhere, the demographics of the respondents, and how many clinicians with experience with the condition contributed insights. We will use this background to better understand the context of the perspectives shared. 
  1. How were you or your child diagnosed with early-onset (i.e., late infantile early juvenile) MLD? Please describe the process of getting diagnosed. 
  1. Please tell us about you or your child’s disease experience (including symptoms) and the impact and effects on quality of life. 
  1. To date, what treatments have you or your child been given?  
  1. Based on your experience, what would you describe as the potential benefits and/or the potential challenges of newborn screening for the condition? 
  1. Given your experience, would you have been interested in newborn screening for early-onset MLD?  
  1. Please download, complete and attach the COI Declaration Form in the "Attached File" upload area below.

Please zip up your files if you are uploading more than one file (if group submission multiple COI's will be required).

Choose file
  • One file only.
  • 8 MB limit.
  • Allowed types: pdf, doc, docx, xls, xlsx, zip.

Clinician Input Questions

If yes, please describe how you gathered the perspectives (e.g., by interviews, focus groups, or survey; personal experience; or a combination of these). Where possible, include when the data were gathered, if data were gathered in Canada or elsewhere, the demographics of the respondents, and how many clinicians with experience with the condition contributed insights. We will use this background to better understand the context of the perspectives shared. 
  1. What is the current approach to identifying and diagnosing newborns, infants, and young children with early-onset MLD? 
  1. Please describe how early-onset (i.e., late infantile early juvenile) MLD affects patients (e.g., disease experience [including symptoms], and the impact and effects on quality of life). 
  1. Please describe your current approach to treating newborns, infants, and young children with MLD. What treatments are currently available for early-onset MLD, and which treatments do you typically provide or prescribe?   
  1. Would universal newborn screening change the current treatment approach (e.g., change eligibility for treatments) for newborns, infants, and young children with early-onset MLD, and if so, how? 
  1. What health systems considerations or implications need to be considered (e.g., related to human resources, laboratory equipment, IT infrastructure, and so on) if newborn screening for early-onset MLD was adopted? 
  1. Based on your experience, what do you think are the ethical or social issues of newborn screening for early-onset MLD (e.g., potential harms and benefits; challenges in accessing care; potential for systematic barriers to accessing newborn screening for certain populations such as racialized peoples, Indigenous Peoples, 2SLGBTQ+; or people living in rural or remote areas)? 
  1. Please download, complete and attach the COI Declaration Form in the "Attached File" upload area below.

Please zip up your files if you are uploading more than one file (if group submission multiple COI's will be required).

Choose file
  • One file only.
  • 8 MB limit.
  • Allowed types: pdf, doc, docx, xls, xlsx, zip.