A webinar series dedicated to shining a light on alpha-mannosidosis, an ultra-rare genetic disorder caused by a deficiency of the lysosomal enzyme alpha-mannosidase. The symptoms, severity, and progression of alpha-mannosidosis vary widely between individuals, making diagnosis challenging and often delayed. Minimizing the time to diagnosis is important in ensuring that individuals with alpha-mannosidosis and their families receive timely access to support and specialist MDT care.    

Join our expert panel as they explore the diverse symptoms of alpha-mannosidosis, challenges and solutions for timely diagnosis, and best practices for long-term management and multidisciplinary care. The webinars will feature case study examples, panel discussions and audience Q&A.



  • Dr Christina Lampe, Director of the Centre for Rare Diseases of the Department of Child Neurology, Epileptology and Social Medicine, Center for Paediatric and Adolescent Medicine at the University Hospital of Giessen, Germany.
  • Dr Karolina Stepien, Consultant in Adult Metabolic Medicine Salford Royal NHS Foundation Trust, United Kingdom.
  • Prof. Can (John) Ficicioglu, Professor of Pediatrics at the Children’s Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, United States.


  1. To identify the symptoms associated with alpha-mannosidosis and understand how to differentiate this condition from other lysosomal storage disorders 
  2. To explore the patient journey through the lens of a real-life case study example and consider how the path to diagnosis could be improved for individuals and their families
  3. To understand the importance of an early diagnosis, the barriers to diagnosis and how they can be overcome


Watch the video!

This event is organized and funded by Chiesi Ltd.
This information is intended for healthcare professionals only.
There are no continuing medical education (CME) credits for this event.