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This Issue
Register to attend live or watch the video on demand after the session concludes.
Context
Alpha-mannosidosis (AM) is a rare, progressive lysosomal storage disorder with a broad and variable clinical presentation. With disease-modifying treatment now available, the clinical question no longer ends at diagnosis: clinicians need a clear picture of where each patient starts and a reliable way to judge, over time, whether the disease is stable, improving, or progressing.
The Think Rare webinar series continues on Wednesday, 28 October, with a session dedicated to baseline assessment and longitudinal monitoring. Built around a real treated AM case, it sets out a practical framework using validated clinical scales for routine follow-up.
Missed the earlier webinars on recognizing AM behind recurrent ENT infections and on mild and attenuated forms? Both are now available on demand – see below.
Upcoming Webinar 3 • Wednesday, 28 October
Key Learning Points from the Webinar
At the end of the webinar, participants will be able to:
Build a Baseline Assessment
Establish a structured baseline assessment framework at diagnosis, covering cognitive, motor, functional, and quality-of-life domains.
Apply Validated Clinical Scales
Identify and apply validated clinical scales relevant to AM monitoring, including how to interpret stability, improvement, and progression.
Monitor Over Time
Define expected clinical trajectories over the first 12 months and recognize deviations that signal progression or treatment response.
Overcome Implementation Barriers
Understand the barriers to structured monitoring in routine practice, and how to integrate a practical framework into real-world follow-up.
Missed the Previous Webinars? • Watch Them On Demand
Catch up on the first two sessions of the series – from recognizing AM in the child who keeps coming back to spotting its milder, easily overlooked forms.
Not All Alpha-Mannosidosis Looks Severe: Recognizing Mild and Attenuated Forms in Everyday Pediatric Practice
Dr. Karolina Stepien · Dr. João Durães · Recorded 7 October 2026
Learn why milder forms of AM are the most commonly missed, how false reassurance and fragmented care delay diagnosis, and which decision points in a real-world case could have shortened the pathway.
Watch Webinar 2 On Demand →
The Child Who Keeps Coming Back: Recognizing Alpha-mannosidosis Behind Recurrent ENT Infections, Hearing Loss, and Developmental Concerns
Dr. Cláudia Falcão Reis · Prof. Mehmet Umut Akyol · Recorded 16 September 2026
Learn to connect symptoms that are often managed in isolation across specialties, recognize the pattern that should raise suspicion of AM, and know when to escalate to metabolic referral.
Watch Webinar 1 On Demand →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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