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This Chiesi-sponsored webinar explored the critical role of patient-reported outcomes (PROs) and caregiver perspectives in the care and management of alpha-mannosidosis. Hosted by Dr. Nathalie Guffon and featuring Dr. Can Ficicioglu and Dr. Christina Lampe, the session focused on how the practical implementation of Delphi consensus recommendations can improve individualized care for patients living with this rare, progressive lysosomal storage disorder.
Dr. Guffon opened with a review of key takeaways from the previous session, highlighting the broad clinical spectrum and variability in symptom progression among alpha-mannosidosis patients. She underscored the importance of recognizing red flags such as hearing loss, motor difficulties, and recurrent infections early in life. A detailed case study illustrated how the disease can evolve over decades, with challenges including ENT complications, cognitive and psychiatric symptoms, and social isolation.
Dr. Ficicioglu discussed monitoring protocols, stressing the importance of regular hearing and ENT assessments, immune function testing, pulmonary function evaluations, and neuropsychiatric monitoring. He emphasized the necessity of multidisciplinary follow-up involving audiologists, pulmonologists, cardiologists, psychologists, and geneticists. In particular, psychiatric manifestations such as anxiety, hallucinations, and depression were discussed as significant but often under-recognized burdens of the disease.
Dr. Lampe expanded on the use and limitations of PROs, noting the lack of validated disease-specific tools for alpha-mannosidosis, particularly for children and cognitively impaired patients. Despite these limitations, tools like the EQ-5D-5L and SHAC questionnaires can help assess functional and quality-of-life impacts. She presented a second case study involving two adult twin sisters diagnosed following their younger sibling’s diagnosis. Despite mild cognitive impairment and treatment-related logistical challenges, the patients experienced improved endurance and reduced fatigue after starting therapy.
The speakers stressed the importance of adapting monitoring and care to each patient's unique disease progression, age, and support needs. They highlighted the burden on caregivers—particularly in managing appointments and coping with the psychosocial and financial strain—and emphasized the value of integrating support services, patient advocacy groups, and local care networks.
The webinar concluded with a call for collaborative efforts to develop more appropriate and validated PRO tools for alpha-mannosidosis and similar ultra-rare diseases. Practical tips for simplifying follow-up assessments and coordinating care were shared, aiming to reduce the burden on families and support more effective, holistic disease management.