On the 20th of March 1998, in addition to a national meeting of the Dutch Congenital and Metabolic Diagnosis Group, people involved with Pompe’s disease from different international organisations met with the following mission:
Bringing together worldwide positive energy in order to help Pompe patients and their families improving the quality of their lives.
This gathering led to the organisation of the First Official Meeting of the International Pompe Association in July 1999 as a part of an international congress on Pompe’s disease. At this meeting the objectives and policy of the IPA were discussed.
The following chapters have been derived from this discussion, in order to give a clear view of IPA’s mission and objectives.
The mission statement of the IPA is as follows:
In order to fulfil the mission, the executive committee has defined two objectives (1 and 2), which in turn are split into ‘sub’-objectives. This chapter shows and explains these objectives shortly.
1. Assure that there is early diagnosis and effective, affordable and safe treatment and therapy for all patients and their families and other involved parties with Pompe's disease.
1.1 Stimulate research into the causes, treatment and prevention of Pompe's disease
Important ways to stimulate the research activity in the field of Pompe's disease are setting up activities such as organising expert-meetings, building networks of researchers and industry, modifying regulations, and facilitating the search for patients and patient-materials.
Stimulating research is also done by pushing the developments towards a successful Orphan Drug Regulation in Europe, or by helping researchers to raise significant amounts of money. Furthermore, research activities could be co-ordinated, initiated and encouraged by IPA.
1.2 Stimulate the rapid application of research into the causes, treatment and prevention of Pompe's disease
IPA will stimulate the rapid application of important and useful study results into the causes, treatment and prevention of Pompe's disease, for example by disseminating the results to researchers, patients and industry.
1.3 Promote early and accurate diagnosis of Pompe's disease
IPA will use its best effort to stimulate and promote research into the development of instruments which can make the diagnosis as accurately and early as possible.
There are several descriptions of cases in which the diagnosis of Pompe’s disease was made in a baby who had died from cardiac or respiratory failure. Uniform diagnostic criteria for Pompe’s disease are not yet available, although a protocol has been published recently. The early detection and diagnosis of Pompe’s disease is essential in order to start symptomatic treatment, counselling, etc. as soon as possible.
If ERT works, or dietary treatment proves to be really effective, the early detection and diagnosis of Pompe’s disease becomes even more important. In Australia, diagnostic tests have been developed for several lysosomal storage diseases (including Pompe’s disease) aiming at a non-invasive, fast, sensitive, and cheap procedure.
The early detection and/or screening also enables parents to consider prenatal diagnosis and to start with a treatment pre-symptomatically. Ethical issues might arise concerning screening-programs, especially in the case of the adult type of Pompe’s disease.
1.4 Support national organisations obtaining Government Health Approval
IPA can assist in the obtaining of approval for example by giving support in raising the level of public awareness of the disease. The experiences of national organisations can be written down in guidelines so that other organisations can profit from these experiences.
In addition, the experience from Gaucher disease can be transfered. In this case, market approval was given because EnzymeReplacementTherapy (ERT) was the first and only effective treatment for this rare disease. In most countries, the price of ERT was of secondary interest in the negotiations with the governments. However, disturbing trends in several countries have been observed as well, like refusal of expensive treatments.
1.5 Use the best efforts concerning availability and affordability of medicine and treatments.
Reimbursement by IPA and support and advice towards national groups, can be helpful in the process of market approval.
The attitude of governments and the general public towards the level of health care funding and towards developments in the area of biotechnology differs from country to country. Patient associations play an important role in modifying the attitude towards these technologies, especially in relation to health care. They represent the most legitimate argument to stress the need for biotechnology to produce drugs. Information and reimbursement by patient groups towards politicians is very important in order to get an affordable drug as soon as possible.
People who are less involved (and less informed) or have other interests such as animal rights, could delay several steps in the process towards an available and affordable drug. Patient groups represent the most important partner in acceleration of the necessary steps.
1.6 Encourage other organisations or individuals to establish a mechanism for the more indigent patient to apply for or to have access to treatment or therapy
IPA should support the availability and affordability of treatment in indigent countries. This needs to be done in consultation with the industry.
1.7 Engage in revenue generation and/or fundraising activities to support and defray organisations and operational needs of the organisation and the support of projects and programs that are to the best interest of the patients, families and the organisation
IPA does not aim at raising money in a big way for research projects, funds for more indigent countries, etc. IPA is a facilitating body and will raise money for their activities in this area, such as stated in this report and for future activities agreed upon by the members of IPA.
1.8 Encourage the establishment of national Pompe organisations
National organisations for Pompe's disease are very important in order to inform and/or support patients with Pompe's disease and their families and/or stimulate research.
National Pompe associations from several countries are organised differently. In some countries they operate as a separate association, in other countries they are part of an association for glycogen storage diseases, neuromuscular diseases, lysosomal storage diseases, metabolic diseases, etc. However, in a substantial number of countries, people with Pompe’s disease have not organised themselves yet. Existing associations offer help to countries which want to found a national Pompe-group.
The various national Pompe associations already offer information and/or support and/or stimulate research. Moreover, associations have a political influence on the government.
2 Assure that there is reliable information and support to all patients and their families and other involved parties with Pompe's disease.
2.1 Organise an annual international meeting
IPA will organise an annual meeting. The IPA-meetings can be used for the exchange of scientific information and to discuss the policy of IPA.
2.2 Provide "on-line" information by Internet and other sources
Under responsibility of the Internet-committee, IPA will co-ordinate information through the IPA-site which meets the objectives of IPA.
The International Pompe Association has an Internet-site hosted by the British Glycogen Storage Disease Association (http://www.worldpompe.org). By now, it has 500 visitors every month. In addition, an Internet mailing-list of more than 200 people directly involved in Pompe’s disease is being maintained. The use of Internet communication has proven to be a valuable source of information and personal contact.
2.3 Collecting information on respiratory support and other aids
IPA will not only collect information on the therapeutic developments, but also on aids like respiratory support, on dietary treatment, etc. in order to provide both medical staff and the patients with facts and experiences.
Home Mechanical Ventilation (HMV) has proven to be a therapy which not only prolongs life, but also improves the quality of life for people with Pompe’s disease. The availability of HMV-equipment as well as expertise in a lot of countries, is poor.
It is not yet fully clarified to what extent dietary treatment of people with Pompe’s disease contributes to the prevention of symptoms. It is unlikely that diets can repair any damage already developed.
2.4 Co-ordinate and support the activities and formation of national groups
National Pompe organisations and groups are responsible for maintaining the contact to “their” patients and for providing them with the information available (translated if necessary).
All actions which might be helpful for every Pompe’s patient should be initiated, co-ordinated and reported by the IPA, with the national Pompe groups acting as a “prolonged arm” of the IPA. This will prevent the national groups from doing the same work without knowing each other’s experiences. Activities which apply to the specific situation of national groups should remain the responsibility of the national groups, but should be reported to the IPA in order to share the experiences.
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