What Matters Most? Monitoring Progression and Evaluating Treatment Impact in Alpha-Mannosidosis

This webinar addresses two practical questions that clinicians increasingly face now that disease- modifying treatment is available for Alpha-mannosidosis (AM): what should be assessed at diagnosis, and how should patients be monitored over time to understand disease progression and functional change? Although validated clinical scales exist across lysosomal storage disorders, their use in AM remains inconsistent. Led by Dr. Agne Kerpauskiene and Dr. Mónica López Rodríguez, the session outlines practical approaches to baseline assessment and longitudinal monitoring.

This session uses a treated AM case as a throughline — from baseline assessment at diagnosis, through the validated scales used to track progression, to a joint discussion of what a real monitoring plan looks like at 6 and 12 months.

Expert presentations cover:

• Case-based introduction (Dr. Agne Kerpauskiene): A treated AM case presented at diagnosis,establishing baseline assessment across cognitive, motor, functional, and quality-of-life domains, anddefining the expected clinical trajectory over 12 months.
• Scales and monitoring framework (Dr. Mónica López Rodríguez): An overview of validated clinical scales(with a focus on the BOT-2) used across lysosomal storage disorders and their applicability to AM, coveringmotor, cognitive, and health-related quality-of-life instruments, and how to interpret stability versusimprovement versus progression.
• Expert panel discussion (All speakers): Applying the discussed scales directly back to the case from Part1 — which tools would be selected at diagnosis, what a monitoring plan would look like at 6 and 12 months,and how clinicians would interpret change in this patient.

The session features:

• A structured baseline assessment framework covering cognitive, motor, functional, and quality-of-life domains
• Validated clinical scales relevant to AM monitoring, including the BOT-2
• How to interpret stability, improvement, and progression as distinct, clinically meaningful categories
• Practical discussion of the barriers to implementing structured monitoring in routine practice, and how to address them

This webinar is intended for healthcare professionals only. It is part of the THINK RARE program, which EIP develops and manages independently with respect to content, topics, and speaker selection. EIP seeks unrestricted grants to support its activities; Chiesi Farmaceutici S.p.A. has provided one to partially support EIP's work on early diagnosis of metabolic disorders.