IPA - International Pompe Association

Towards a therapy for Pompe’s disease

Preface

Pompe’s disease: From diagnosis to treatment

In 1932 the Dutch pathologist J.C. Pompe discovered a disease which caused a baby to die from heart enlargement. This discovery was the actual beginning of the process which will lead to the finding of a therapy for Pompe’s disease. This therapy is now within reasonable expectations.

The process from diagnosis to therapy involves various stages. Actors playing a role in these stages are doctors, researchers and industries. Patient organisations are an emerging partner in the process which they can substantially accelerate. For many patients suffering from as yet incurable diseases, it is a race against time, in which genetic technology offers new tools.

The crucial partners in the process from diagnosis to treatment were invited by patient organisations from several countries to join their forces on the First Conference of the International Pompe Association. This meeting took place in Naarden, the Netherlands, from 2-4 July 1999 and both doctors, researchers, industries and patients actively took part in this exciting conference.

In this report all partners present the results of their tremendous commitment to help people with Pompe’s disease and their families to cope with the disease and to find an effective treatment. A joint commitment which has made a therapy for Pompe’s disease a realistic prospective.

The researchers will show how Enzyme Replacement Therapy (ERT) in Pompe’s disease (or acid-maltase deficiency) has reached the phase of testing in affected humans. As early diagnosis of the disease becomes even more important in the scope of a possible therapy, work in this area will be discussed as well. In addition, the results of the work into gene therapy are reported, which has great potential for an effective treatment in the future.

The involved partners from the industry are committed to bring Enzyme Replacement Therapy to the market as soon as possible. In this report they give insight in the process of enzyme production and of market approval.

For patients and their families the principal issue is how to act in the uncertain situation which has arisen: on the one hand there is hope and happiness because a drug might influence their disease positively and on the other hand there are still a lot of unanswered questions with regard to the effect of the drug and the time schedule for availability of the treatment. Patient representatives will stress the importance of information, support, and ethical debate.

The final part of the conference and this report is reserved for a very joyful event: In order to share experiences and to increase the influence of patients (for example towards politicians), national patient associations have founded an International Pompe Association (IPA).

IPA will become the representative body for people with Pompe’s disease and their families all around the world. Its mission and objectives are described in this report. Moreover, information can be found on the IPA Internet site (http://www.worldpompe.org).

As chairmen of the IPA we are very proud and thankful to hand over to you the summarised results of the extensive work to which doctors, researchers, industries and patient associations have committed themselves over the last decades.

Facing the new decade, we trust that an effective treatment for Pompe’s disease will be available soon.

Randall House Ysbrand S. Poortman

Conference Agenda The agenda and full conference papers are available via this link
Credits

The sponsors of the conference and this report are:

• Pharming/Genzyme LLC


• Synpac (North Carolina) Inc.


• Vereniging Spierziekten Nederland

Compiled by:
Vereniging Spierziekten Nederland
December 1999
Baarn, the Netherlands

Towards a therapy for Pompe’s disease
Report of the First meeting of the International Pompe Association
2-4 July 1999
Naarden, the Netherlands

Editors

S. Hekkelman
H. van Veenendaal, M.Sc.
Vereniging Spierziekten Nederland
and
International Pompe Association