Forming a national Pompe group: our experience

The AMDA, Acid Maltase Deficiency Association, was formed in 1995 to foster and promote research and interest in Acid Maltase Deficiency (AMD), also known as Pompe’s disease. It is a US based non-profit organization that my husband and I formed after our daughter was diagnosed with juvenile AMD, almost 5 years ago.

Frustration over the lack of information about the disease and the desire to stimulate research in this field, motivated us to organize an association devoted exclusively towards AMD.

Progress in AMD Research

When our daughter was diagnosed, we were told that there was no treatment or cure for this disease. We were told that the disease was progressive and that there was nothing that could be done to save our daughter’s life. We were told that all research in this field had been unsuccessful. Early attempts at enzyme replacement had failed, and since the disease was so rare, it was doubtful that research would progress.

But research has progressed, and it has progressed dramatically. Currently, there are two groups conducting clinical trials with Enzyme Replacement Therapy (ERT). One group is in the Netherlands and the other group is in the United States. Both groups have the backing of pharmaceutical companies that are gearing up to produce and market the enzyme.

AMDA has now been in existence for almost 5 years. We maintain a large patient registry. We have sponsored 3 scientific conferences that have been attended by scientists and physicians from all over the world. We publish a newsletter that reaches patients, physicians, professionals, and other interested parties and keeps them informed on current developments in research. We maintain an Internet site that provides vital information and also links to other sources of information.

It is amazing how things have progressed in the last 5 years. Our optimism is hard to control. The future looks bright. If the current clinical trials are successful, they will be expanded and marketability of the enzyme could be a reality within several years.

Hopefully, ERT will prove to be a successful treatment for AMD, but we cannot stop there. Research into gene therapy, the ultimate cure for AMD, must continue. In addition, a non-invasive means to diagnose the disease must be developed.

Future Goals of the AMDA

Our work has only just started. We will continue to push for a treatment and ultimately, a cure for this disease. Our future goals are outlined below:

1. Availability of Enzyme Replacement Therapy for all patients.
2. Establish a patient service center to provide assistance in obtaining insurance coverage for ERT treatment. Set up a fund to covered the care of indigent patients.
3. Work with governmental authorities to insure that all patients have access to treatment regardless of economic condition.
4. Continue to make available current research information to patients, medical professionals, and other interested parties throughout North and South America.
5. Provide support and assistance to organizations in neighboring South American countries that want to form an AMD association. It is important that patients in all countries have access to current information and can be provided with assistance in finding medical professionals who are knowledgeable in the diagnosis and treatment of the disease. With the establishment of patient support groups throughout South America, industry will have a foundation on which to build a patient market and thereby will be motivated to establish treatment centers in these countries.
6. Stimulate the scientific and medical community to continue efforts to advance research into gene therapy for AMD.
7. Support research into the development of a diagnostic tool to screen for and detect the disease in the early stages.
8. Provide counseling and support for families dealing with a sick child or family member.
9. Provide updates on issues that may arise as more data is obtained on the effects of therapy on the patient.
10. Work with broader based groups to promote research and to educate patients and physicians. The IPA is an ideal way to do this.

Closing

The motto of AMDA was taken from a book that was given to our daughter after her diagnosis. We have found this to be an appropriate theme and goal for the AMDA:

It is difficult to say what is impossible
for the dreams of yesterday are the hopes of today
and the reality of tomorrow.
(by Robert H. Goddard)