Research

Therapeutic Research

There is a great deal of research into improved treatments for Pompe disease, Genzyme are currently investigating improvements to their Enzyme Replacement Therapy, gene therapy is under investigation in several international centres and enzyme chaperoning is under investigation.

Amicus Therapeutics is developing an experimental, oral therapy for the treatment of Pompe disease and belongs to a class of molecules known as pharmacological chaperones [read more]

The IPA are in close contact with the Amicus team in their role as global patient advocates, in responce to their request Amicus have provided the following short statement about the work they are doing towards a therapy for Pompe Disease.

Amicus Therapeutics is a clinical-stage biopharmaceutical company focused on the development of a new class of oral drugs called pharmacological chaperones. The current focus is on lysosomal storage disorders and Amicus is conducting clinical trials in patients with Fabry, Gaucher, and Pompe disease.

Pharmacological chaperone therapy is an investigational approach using oral, small molecule medications designed to bind to an individual's own enzyme. Many individuals with lysosomal storage disorders do make lysosomal enzymes; however, the enzyme they make is misfolded and may not get delivered to the lysosome. Binding of a pharmacological chaperone to an individual's naturally occurring misfolded enzyme is thought to help stabilize the misfolded enzyme and "chaperone" the enzyme to the lysosome, where it can break down substrate like glycogen.

Since pharmacological chaperones work by binding to an individual's naturally occurring enzyme, this approach may not be amenable for individuals that do not make any enzyme. However, there are many different types of genetic mutations in Pompe disease that do allow enzyme to be made. In upcoming clinical trials, Amicus will investigate which mutations may respond to pharmacological chaperones.

A more detailed description of enzymes, including what they do, how they are made, and what happens when they aren't made correctly, can be found in the brochure "What's Missing? ".

Amicus has completed Phase 1clinical trials for AT2220, a pharmacological chaperone under investigation for Pompe disease. Phase 1 studies are done in healthy volunteers to primarily assess the safety of the drug. The Phase I results showed that different doses of AT2220 were generally safe and well-tolerated. Amicus is planning to initiate a Phase 2 clinical trial of AT2220 in individuals with Pompe disease in 2008. Information about clinical trials in Pompe disease can be found at www.clinicaltrials.gov or by contacting the IPA.

The IPA Board recently posed a number of questions to Amicus regarding their Pompe Programme, here are their answers:

Amicus Q&A

Investigational Research

Investigation into the clinical condition of late onset Pompe patients
Pompe Centre, Erasmus Medical Centre, Rotterdam

The Pompe Centre is an initiative of researchers and clinicians of the Erasmus University, the Sophia Children's Hospital, and the Academic Hospital, united in the Erasmus MC, Rotterdam, aimed to function as a Centre of expertise in the field of Pompe disease. One of its activities is the questionnaire project "Investigation into the clinical condition of late onset Pompe patients", that is carried out in co-operation with the International Pompe Association.

The questionnaire project was started to gather information about the course of the disease to better understand the condition of juvenile and adult patients. In the light of the current developments in the treatment of Pompe disease it is of great importance to understand disease status and progression in a large group of untreated patients.

The IPA has been sponsoring this international survey of Pompe patients since 2002. Initially 22 UK patients (adults and children) took part, many of whom have participated in 2 and 3 year follow-up surveys. The survey consists of questions on 14 topics and included adapted versions of several disability evaluation, handicap, fatigue, and health surveys.

The following publication presents analysis of the baseline survey and 1, 2, and 3 year follow-up surveys:

"Pompe Disease in Children and Adults: Natural Course, disease severity and impact on daily life", Marloes Hagemans PhD Thesis, ISBN 90-9020644-2, June 2006.

The value of this survey cannot be overestimated; it provides an insight into the disease progression that will not be possible ever again as diagnosed patients gain access to Enzyme Replacement Therapy. Its data was used in the submission to the FDA and EMEA in order to gain market approval of Myozyme. Future follow-up surveys will show the change in the behaviour of the disease as patients receive ERT.

For more information visit www.pompecenter.nl and choose <Pompe Survey> from the menu

Page last modified on 09/10/2009