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In this webinar, Dr. Mercedes Gil-Campos from the University of Córdoba presents a thorough exploration of treatment options and multidisciplinary care strategies for alpha-mannosidosis (AM), drawing from consensus-based methodologies and clinical trial data.
Dr. Gil-Campos begins by highlighting the absence of formal treatment guidelines for AM and presents findings from the Adelphi Consensus, which involved a panel of 39 specialists including pediatricians, geneticists, metabolic disease experts, and pharmacologists. The goal of the consensus was to establish coordinated care pathways and monitoring practices across specialties for both pediatric and adult patients.
The presentation focuses on two key areas: routine follow-up care and treatment monitoring. AM affects multiple systems, including the nervous system, auditory and visual function, skeletal system, respiratory and cardiac health, and immunity. Therefore, multidisciplinary coordination is essential, involving neurologists, ENT specialists, pulmonologists, cardiologists, and metabolic clinicians.
The second focus is on treatment strategies—particularly enzyme replacement therapy (ERT) with velmanase alfa. Dr. Gil-Campos reviews outcomes from several clinical trials, including the LAMAN-5 and LAMAN-10 studies. These trials demonstrated that pediatric patients show greater therapeutic benefit than adults, with improvements observed in biochemical markers (e.g., serum oligosaccharides, immunoglobulin G), functional tests (e.g., 6-minute walk test, stair-climbing), and quality of life assessments.
Dr. Gil-Campos introduces a multi-domain evaluation framework for assessing treatment response. Patients are classified as responders if they show improvement in at least two of three domains: biochemical, functional, and quality of life. In clinical studies, 87% of velmanase alfa-treated patients met this threshold, compared to 30% in the placebo group.
A compelling case study of a long-term ERT patient is shared. Diagnosed at age 4 and treated continuously since age 10, the patient has reached adulthood with significant functional independence, academic success, and high quality of life—showcasing the potential benefits of early and sustained therapy.
The presentation concludes with an overview of the SPARCL registry, a long-term European observational study tracking AM patients to refine understanding of disease progression, treatment outcomes, and care models.
Dr. Gil-Campos emphasizes that early diagnosis and initiation of treatment, particularly in pediatric patients, is key to achieving better outcomes. She calls for broader awareness, shared care approaches, and commitment to long-term monitoring across Europe.