COURSE DESCRIPTION

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.

PRESENTERS

• 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.

LEARNING OBJECTIVES

• To understand best practice, multidisciplinary care in the long-term management and monitoring of alpha-mannosidosis
• To explore how care and management can be enhanced, including barriers to appropriate care and how to overcome them
• To discuss how to support the transition from pediatric to adult care

Watch the video!