Diagnosis, management and monitoring of patients with Pompe disease in the UK.

Pompe disease is a rare, inherited metabolic disorder characterised by lysosomal acid alpha-glucosidase deficiency. The disease is classified into infantile-onset and late-onset forms and is treated with enzyme replacement therapy. Currently, there are no standardised clinical management guidelines for Pompe disease in the UK. An expert panel of nine healthcare professionals with expertise in caring for patients with Pompe disease was convened. A review of the literature was performed for an overview of the available evidence and to identify gaps. This was used to develop survey questions for the steering committee to answer based on their clinical experience. Statements were drafted based on answers and voted on anonymously by the experts before being discussed during two meetings to reach consensus. Consensus was reached on how to diagnose Pompe disease in adult and paediatric patients, evaluations to assess disease progression and treatment effect and long-term management. These are the first UK-specific guidelines describing clinical management of Pompe disease.