Shine A Light On Alpha-mannosidosis (AM): A Brighter Future

It opens with a review of therapy types—hematopoietic stem cell transplantation (HSCT), enzyme replacement therapy (ERT), and supportive care. Dr. Burton outlines follow-up protocols for each, emphasizing early intervention for HSCT and regular biochemical and symptomatic monitoring for both HSCT and ERT recipients. She highlights the importance of lifelong surveillance, even after transplant, due to the disease's multisystemic nature.

A compelling case study illustrates the challenges of long-term care. A child diagnosed in infancy received HSCT at 17 months and, though neurologically stable for years, later experienced mobility issues. ERT was introduced in adolescence, resulting in improved mobility and reduced joint pain. Dr. Burton underscores the significance of sustained follow-up and tailored symptom management.

Dr. Stepien then explores the necessity of multidisciplinary care throughout a patient’s life. She emphasizes coordination among specialists—ENT, cardiology, orthopedics, psychology, and more—and the value of case workers for families who lack access to integrated clinics. Transitioning from pediatric to adult care is addressed in detail, with a focus on early planning, standardization of protocols, and empowering patients and caregivers. A second case illustrates how delayed diagnosis and insufficient coordination in early life can lead to more severe complications in adulthood, but also how collaborative surgery and follow-up can dramatically improve quality of life.

In the panel discussion, speakers address implementing Delphi consensus recommendations into daily practice, training adult care providers on rare diseases, and adapting care models to local healthcare infrastructures. The role of telemedicine, the need for transition readiness assessments, and how digital health tools may support care coordination are also discussed. The webinar concludes with an acknowledgment of the psychosocial impact on families and the critical role of long-term, personalized care to improve outcomes and support a brighter future for patients with alpha-mannosidosis.