Excellence in Pediatrics is a non-profit association dedicated to advancing pediatric healthcare.
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email: secretariat@ineip.org
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This Issue
The Think Rare Program is introducing a new series of live webinars, taking a closer look at recognition, differential diagnosis, and long-term monitoring of this rare lysosomal storage disorder.
Context
Alpha-mannosidosis (AM) is a rare, progressive lysosomal storage disorder with a broad and variable clinical presentation. Early signs – often recurrent ENT infections, hearing loss, or subtle developmental delay – are frequently managed in isolation across specialties, contributing to diagnostic delays that can span years and defer access to disease-modifying treatment.
The Excellence in Pediatrics Institute is continuing its work on alpha-mannosidosis within the Think Rare Program, bringing together leading experts to help clinicians recognize early signs, navigate the differential diagnosis, and monitor disease progression effectively. With treatment now available, timely recognition has a direct bearing on long-term outcomes.
Three free live webinars will take place throughout September and October 2026, with on-demand access and an EiP Certificate of Attendance available for each session.
Upcoming Webinar 1 • Wednesday, 16 September
Key Learning Points from Webinar 1
At the end of the webinar, participants will be able to:
Recognize the Symptom Pattern
Identify patterns of recurrent ENT infections, hearing loss, and developmental concerns that may indicate Alpha-mannosidosis, rather than managing them in isolation.
Connect Symptoms Across Specialties
Improve confidence in connecting symptoms across time and specialties to build suspicion of AM sooner.
Know When to Escalate
Identify when common, recurring presentations warrant escalation and metabolic referral, supporting earlier specialist care.
Upcoming Webinar 2 • Wednesday, 7 October
Key Learning Points from Webinar 2
At the end of the webinar, participants will be able to:
Recognizing Mild and Attenuated AM
Recognize mild and attenuated presentations of AM, including subtle cognitive, motor, or developmental features.
Overcoming False Reassurance
Understand how false reassurance and symptom fragmentation contribute to diagnostic delay in milder AM phenotypes.
Knowing When to Act
Identify the decision points at which “watch and wait” is no longer appropriate, and apply real-world case lessons to shorten the diagnostic pathway.
Upcoming Webinar 3 • Wednesday, 28 October
Key Learning Points from Webinar 3
At the end of the webinar, participants will be able to:
Building a Baseline Assessment
Establish a structured baseline assessment framework at diagnosis, covering cognitive, motor, functional, and quality-of-life domains.
Applying Validated Clinical Scales
Identify and apply validated clinical scales relevant to AM monitoring, including how to interpret stability, improvement, and progression.
Monitoring Over Time
Define expected clinical trajectories over the first 12 months and recognize deviations that signal progression or treatment response.
Overcoming Implementation Barriers
Understand the barriers to structured monitoring in routine practice, and how to integrate a practical framework into real-world follow-up.
Disclaimer
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.
About the Program
The EiP Think Rare Program empowers pediatricians and general practitioners to identify rare and underdiagnosed conditions early. The program currently covers MPS, MLD, AM, and CLN2 (Batten disease), forming a practical, centralized resource for recognizing rare diseases in clinical practice.
Explore the Learning Zones
Each Learning Zone focuses on a specific rare disease, equipping you with condition-specific knowledge, early signs to watch for, and up-to-date clinical resources. Explore all zones to build both depth in individual conditions and a broader understanding of how rare diseases present in practice.
Mucopolysaccharidosis (MPS)
Explore practical resources to help detect early signs, reduce misdiagnosis, and ensure timely referrals and intervention.
Visit Zone →Metachromatic Leukodystrophy (MLD)
Recognize early signs often mistaken for common conditions and take action sooner to change the course of a child’s life.
Visit Zone →Alpha-Mannosidosis (AM)
Recognize the early signs and transform outcomes with earlier, more accurate referral and patient care.
Visit Zone →Neuronal Ceroid Lipofuscinosis (CLN2)
Explore practical resources on CLN2 (Batten disease), from early recognition to multidisciplinary management and treatment.
Visit Zone →Rue des Vignerons 1B, 1110 Morges (VD), Switzerland
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