Pompe disease

Number 177
Date 12 September 2010

During the weekend of 10 - 12 September 2010, eighteen clinicians and researchers with clinical experience in treating and following larger groups of patients with Pompe disease, or doing research in this disorder, met in Naarden, theNetherlands. Pompe disease is a rare inheritable muscle disorder for which since 2006 enzyme replacement therapy is available. The first studies on effects of therapy show variation in treatment effects and long-term effects of treatment have not been studied.

Aims of the workshop

The aim of this workshop was

  1. To evaluate the effects of enzyme replacement therapy (ERT) in large cohorts of children and adults with Pompe disease, and
  2. To develop guidelines for monitoring patients and treating them.
  3. To discuss the potential value of registries for identification of prognostic factors and assessment of therapeutic outcome

This workshop brought together a panel of physicians and researchers who have been involved in the clinical trials with ERT or who are currently following large groups of patients with Pompe disease in various European countries, so as to create a platform to exchange experiences and discuss new developments and potential collaborations. It was felt that this was a good starting point, that likely requires a follow-up meeting.

What was achieved?

  1. The different studies assessing the effects of ERT were reviewed and discussed. It was concluded that ERT improves patient prospects and slows or halts the progression of the disease. However, it was also recognised that effects differed in individual patients and that identifying prognostic factors for response to treatment is important.
  2. Further research is needed to identify prognostic factors, which may include the level of immune response against the treatment. It was agreed that data will be collected by the different centres that will be used to gather more information on potential prognostic factors related to the effect of ERT which could be combined in future.
  3. An overview of the way patients are monitored in different countries was constructed. Consensus was reached on the minimal set of assessments for adult Pompe patients, which includes the six-minute walk test, manual muscle (strength) testing, pulmonary function tests (VC), cardiac evaluation, and functional tests (Walter Gardner scale and timed tests).
  4. In few countries official guidance for starting and stopping ERT in Pompe patients was available. The approaches presented by the different members of the group nevertheless did show a common thread. It was agreed that treatment in patients with a confirmed diagnosis should only be started when patients are clinically symptomatic. Further years of experience of treating patients and research on prognostic factors is required to define start and stop criteria further.

The full report is published in Neuromuscular Disorders. For an overview, please click here (pdf)