Formation of a European network to develop a European data sharing model and treatment guidelines for Pompe disease

Number 208
Date 6 October 2014

Location: Naarden, The Netherlands

This workshop was co-sponsored by the Dutch ZonMw, Genzyme Europe BV, the International Pompe Association, Amicus Therapeutics and BioMarin Europe Ltd.



Pompe disease is a rare inheritable muscle disorder for which since 2006 enzyme replacement therapy (ERT) is available. Studies in infants showing improved survival were key to the market approval of this drug. Since 2006 several studies in children and adults have also shown effects of this treatment. Harmonized criteria to start or stop ERT for the whole spectrum of patients with Pompe disease are needed.

This workshop brought together a panel of physicians and researchers from various European countries with clinical experience in treating and following larger groups of patients with Pompe disease, or doing research in this disorder, as well as a patient representative.

Aims of the workshop

The aim of this workshop was

  1. To establish a European Network on Pompe disease
  2. To agree on a minimal dataset (of outcome measures)
  3. To make recommendations on start and stop criteria for ERT for adult patients.

What was achieved?

  1. A European network was formed. The network is initially comprised of the participants of the meeting, but will over time be expanded to involve more European countries, and later possibly also experts from countries outside Europe. Areas the network intends to work on include: data sharing, developing recommendations on starting and stopping ERT, standards of care, harmonisation of outcome measures and responses to questions from health authorities.
  2. Agreement was reached on a minimal dataset to be collected for adult patients. For infants and children a workgroup was set up.
  3. Consensus was reached about recommendations for start and stop criteria for adult patients. These will be prepared for publication.

A full report is published in Neuromuscular Disorders (pdf)