NewSTEPs National Webinar: Newborn Screening for Metachromatic Leukodystrophy: An Overview of Screening Methods and Clinical Approaches

The purpose of this webinar was to provide an overview of the methods used in newborn screening (NBS) for metachromatic leukodystrophy (MLD) and explore the clinical approaches to managing this condition. Viewers will gain insights into effectively incorporating MLD into their existing workflows and the challenges and opportunities of screening for the condition. This webinar was designed for NBS laboratory and follow-up staff, clinicians, genetics counselors, and other NBS stakeholders. 

Objectives: 

The webinar objectives included the following:

• Explore the various laboratory methods and target analytes used in MLD NBS screening
• Describe how to intergrade MLD screening into current protocol and workflows
• Outline the recommended follow-up and management protocols for newborns with positive screening results
• Discuss the clinical presentation and diagnosis of MLD in newborns
• Explain the current treatment and management options for MLD

Moderator:

• Amy Gaviglio, MS CFC, genetic and public health consultant, Connetics Consulting

Speakers:

• Joe Orsini, PhD, program deputy director, Wadsworth Center, New York State Department of Health
• Laura Adang, MD, PhD, MSTR, assistant professor of neurology, Children's Hospital of Philadelphia (CHOP)