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pediatric healthcare.
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This Chiesi-sponsored webinar focuses on the long-term care and management of individuals diagnosed with alpha-mannosidosis (AM), emphasizing multidisciplinary care, ongoing monitoring, and the challenges of managing a rare, progressive condition. The session is moderated by Dr. Karolina Stepien, joined by Dr. Christina Lampe and Dr. Can Ficicioglu, and is intended for healthcare professionals seeking to improve care for AM patients.
The session begins by revisiting the nature of AM as a lysosomal storage disorder, highlighting its chronic, progressive symptoms and the variability in how patients present and progress. The primary learning objectives of the webinar are to understand the best practices for multidisciplinary care, identify barriers to effective long-term management, and explore the transition process from pediatric to adult care settings.
Throughout the webinar, the speakers discuss the value of a structured and collaborative approach involving various medical specialists, including geneticists, neurologists, immunologists, and rehabilitation experts. Real-world patient cases are used to illustrate how integrated care planning improves outcomes and ensures that emerging symptoms are addressed proactively.
Barriers to appropriate care—such as misdiagnosis, lack of disease awareness, delayed specialist referral, and fragmented healthcare systems—are thoroughly examined. The speakers share strategies to overcome these obstacles, including the importance of early genetic testing, maintaining clinical suspicion for AM in high-risk cases, and increasing educational outreach to general practitioners and pediatricians.
Particular attention is given to the transitional phase when adolescent patients shift from pediatric services to adult care. This phase presents risks of discontinuity in care and loss of follow-up, which can have significant impacts on health outcomes. The presenters advocate for early planning, patient and caregiver education, and active communication between pediatric and adult teams.
The webinar concludes with an open Q&A session, where participants discuss practical issues in AM management, including how to identify early cognitive or behavioral changes, monitor organ involvement, and support psychosocial needs. The panel emphasizes that AM, while rare, benefits greatly from early intervention and coordinated care pathways.
Overall, the session underscores that time is a critical factor in managing alpha-mannosidosis—earlier diagnosis and intervention can significantly alter the disease trajectory and improve the quality of life for patients and families.