COURSE DESCRIPTION

A webinar series dedicated to spotting the early signs of alpha-mannosidosis (AM), 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. Minimising 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 experts 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, practical advice, and audience Q&A.

Language: English 

Duration: 30 minutes, followed by 15 minutes of questions from the audience and discussion

Presenter:  Presenters: Dr. Monica Lopez Rodriguez (Ramón y Cajal University Hospital, Madrid, Spain) & Ms. Sophie Thomas (The Society for Mucopolysaccharide and Related Diseases, UK)

LEARNING OBJECTIVES

  • Analysing changes in mobility, pain or discomfort, and patients’ self-care over time (MLR) 
  • Practical insights from the survey on listening to patient voices and needs (MLR) 
  • Exploring the ways to support MA Patients and families (ST) 
  • Improving the support offered by HCPs - understanding what questions patients/families would like answered and what HCPs should ask (MLR & ST) 

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The Alpha-mannosidosis Spot the Early Signs Educational Program is independently developed by the Excellence in Pediatrics Institute, which manages the content, topics, and speaker selection. To support its activities, EIP seeks unrestricted grants and sponsorships. Chiesi Farmaceutici SpA has sponsored these educational webinars.