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A 60-minute educational webinar on providing personalized care in alpha-mannosidosis. Led by Dr Nathalie Guffon (Lyon), Dr Martin Magner (Prague) and Dr Monica Lopez Rodriguez (Madrid), it introduces the global Delphi consensus and, through a real case, shows how care can be tailored to the individual. For paediatricians, neuropaediatricians and metabolic teams.
Alpha-mannosidosis is an ultra-rare, progressive lysosomal storage disease (MAN2B1, alpha-mannosidase deficiency) with heterogeneous, gradually developing symptoms — speech delay and early-childhood hearing loss, immunodeficiency, intellectual disability, skeletal abnormalities, ataxia and psychiatric manifestations. Dr Nathalie Guffon introduces the global alpha-mannosidosis Delphi consensus, developed by a panel of 20 physicians, which produced 60 recommendations across three areas: initial assessment of newly diagnosed patients, routine follow-up of the affected systems, and treatment-related follow-up with coordination of multidisciplinary care. Dr Martin Magner shows how the storage is slow and progressive, so clinicians should suspect the disease — and not wait for full expression — when hearing impairment and developmental delay occur together, using urine oligosaccharides, the enzyme assay and MAN2B1 testing, and always checking that MAN2B1 is on any NGS panel. Dr Monica Lopez Rodriguez sets out how to personalise monitoring of motor and skeletal and cognitive function, and presents a teenage boy diagnosed at nine and treated with home enzyme replacement therapy — a case that illustrates real-world constraints (no baseline assessment locally, distance to the treatment centre, and financial hardship) and how flexible, caregiver-supported care and adolescent empowerment can still deliver good outcomes. The panel emphasises that, in an ultra-rare disease without biomarker evidence from trials, quality-of-life and patient-reported outcomes should guide the assessment of treatment response.
After viewing this webinar, participants will be able to:
It is the first global best-practice guidance for alpha-mannosidosis, developed by a panel of 20 physicians, producing 60 recommendations across three areas: the initial assessment of newly diagnosed patients (including genetic testing), routine follow-up of the affected body systems, and treatment-related assessment with coordination of multidisciplinary care.
Whenever hearing impairment and developmental delay occur together, and more broadly when at least two or three suggestive features cluster — cognitive impairment, hearing loss, organomegaly or bone anomalies. Because the storage is slow and progressive, clinicians should not wait for the full picture before testing and referring.
By tailoring monitoring to the individual — regular assessment of motor function (gait, ataxia, the six-minute walk test), skeletal problems (joint pain, scoliosis, genu valgum, osteopenia), and cognitive and psychiatric function — and adapting to real-world constraints such as distance and family circumstances, with caregiver-supported assessments and, during adolescence, steps to empower the patient.
Because alpha-mannosidosis is ultra-rare and lacks biomarker evidence from clinical trials, response is judged largely on quality of life and patient-reported outcomes — fewer infections, less fatigue, better endurance and mobility, and stability of hearing and neurological status — alongside objective measures such as the six-minute walk test and pulmonary function where the patient can perform them.
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.