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A 60-minute educational webinar on the future of care in alpha-mannosidosis. Moderated by Dr Christina Lampe (Gießen), with Prof. Barbara Burton (Chicago) and Dr Karolina Stepien (Salford), it covers treatment-related follow-up across HSCT, enzyme replacement therapy and supportive care, the multidisciplinary team, and preparing for lifelong needs. For paediatricians and metabolic teams.
Alpha-mannosidosis is an ultra-rare, progressive lysosomal storage disease (MAN2B1, alpha-mannosidase deficiency) requiring lifelong, multisystemic care. Prof. Barbara Burton sets out treatment-related follow-up for the two disease-modifying therapies — haematopoietic stem-cell transplantation (HSCT), considered early in life for the severe form to preserve neurocognitive function, and enzyme replacement therapy — alongside supportive care, and stresses continued surveillance even after a successful transplant, illustrated by a patient she has followed for nearly 20 years who developed new joint and mobility problems in his teens. Both therapies are monitored biochemically (serum and urine oligosaccharides) and by symptom-based assessment across the organ systems. Dr Karolina Stepien explores the multidisciplinary team and the transition from paediatric to adult care. Because more than 90% of these patients now live beyond 20 and most people with rare diseases are adults, a coordinated long-term team — led by a metabolic specialist — and a planned transition (starting in adolescence, with capacity assessment and best-interest processes for patients with intellectual disability) are essential; a second case shows how collaborative surgery and follow-up transformed an adult's quality of life. The panel discusses implementing the Delphi consensus in daily practice, training adult providers in rare disease, adapting to different healthcare systems, and the role of telemedicine in follow-up.
After viewing this webinar, participants will be able to:
There are two disease-modifying therapies — haematopoietic stem-cell transplantation (HSCT), considered as early as possible for the severe, rapidly progressive form to preserve neurocognitive function, and enzyme replacement therapy — together with supportive care, which is important for all patients and may be the only treatment for some. The choice depends on the individual, and all patients need ongoing monitoring.
Yes. Transplantation can ameliorate some symptoms, prolong survival and stabilise neurocognitive decline, but it may not address all manifestations — patients can develop new joint, mobility and other problems years later. So lifelong, symptom-based surveillance by the metabolic team, alongside the transplant team's monitoring for transplant-specific complications, is essential.
Because the disease affects many systems and changes with age, patients need a long-term team — led by a metabolic specialist or geneticist and including audiology, ENT, cardiology, ophthalmology, orthopaedics, physiotherapy, psychology and others — ideally in a single multidisciplinary clinic to coordinate care and reduce the burden on patients and families.
With early planning — starting in adolescence — a transition coordinator, assessment of the patient's capacity, and, for patients with intellectual disability, best-interest processes involving clinicians, nurses, the patient and caregivers. Because these patients are under several teams, the transition to adult neurology, orthopaedics, cardiology and metabolic services should occur around the same time, supported by trained adult providers and, where helpful, telemedicine.
This content is intended for healthcare professionals only. The views expressed are those of the presenters and do not necessarily reflect those of Excellence in Pediatrics; their inclusion does not imply endorsement. The content is provided for educational purposes only and does not constitute medical advice or replace independent clinical judgement.