Pompe Program Update

Category: Archive
June 14, 2004

Genzyme’s Pompe Program has progressed on many fronts over the last 6 months, and we are optimistic that the development of rhGAA will continue to proceed rapidly and responsibly.

Infantile Onset

Genzyme has two clinical trials for infantile-onset patients that are now fully enrolled. The data from these studies will be a critical piece of the world-wide regulatory filings. The data from these studies are not yet available, but once they are, Genzyme anticipates the clinical investigators will submit the results for publication in a timely manner.

The Infantile-Onset Expanded Access Program (EAP) was initiated in October 2003. Infantile-onset patients have been approved for the Program in the US, Europe, and seven other international countries. Some of these patients have begun receiving infusions of investigational enzyme. The Infantile-Onset EAP is still actively screening patients. The inclusion/exclusion criteria for this program are posted on clinicaltrials.gov. Eligibility for this program is based primarily on an onset of symptoms during a child’s first year of life as well as a documented GAA deficiency. In addition, in the US, age-specific symptom criteria are under consideration. In Europe, and in other parts of the world, where regulatory environments differ, the inclusion/exclusion criteria may vary. The best way to get more information regarding patient eligibility is for a treating physician to contact Genzyme Medical Information, either in the US or Europe.

Late Onset

The Late-Onset Prospective Observational Study (LOPOS) was initiated in March and is fully enrolled at this time. This study enrolled quickly, in part due to the high level of interest from late-onset Pompe patients. The LOPOS study enrolled participants at five sites (3 in the US and 2 in Europe). Patients enrolled in LOPOS will not receive investigational enzyme during the observational study, however the study is designed to help provide information regarding the assessments that will likely be performed in the subsequent Late-Onset Treatment Study. It is expected that a sub-set of patients in LOPOS will be enrolled in the Late-Onset Treatment Study.

The Late-Onset Treatment Study is now anticipated to begin in mid-2005. Genzyme had hoped to initiate this clinical trial in 2004, but it is dependent on data that will come out of the LOPOS study. Genzyme is working hard to keep to the timelines that are set, but the priorities must also include ensuring that our studies have the highest level of quality in their design and implementation.

The Late-Onset Expanded Access Program (EAP), which has enrolled patients from the US, Europe and 3 additional countries, was designed to provide investigational enzyme to the most severely affected late-onset patients. This proved to be a difficult task, in that there are many patients who are severely affected. The primary medical criteria (dependence on a wheelchair and use of invasive ventilation on a continuous basis) were thought to be the most likely to indicate the patients whose disease was at the furthest end of the late-onset disease-severity spectrum.

Even with these criteria, there were more qualified patients than could be enrolled in this program at this time. All the patients who applied for the Late-Onset Expanded Access Program were grouped regionally. After final determination of the medical eligibility of each individual patient, patients were enrolled from each regional grouping. In regions where there were more qualified patients than could be enrolled, patients were randomly selected to participate. The goal was to follow this process in a way that was as fair and impartial as possible, since every patient who qualified for the Expanded Access program was so severely affected. Finally, while we were extremely pleased to include late-onset patients in this program, we recognize the disappointment felt by those who were not selected at this time. Genzyme will regularly re-assess the ability to provide additional resources to this program.

At this time, the Late-Onset Expanded Access Program is indicated to be “suspended” on the NIH website, clinicaltrials.gov. This terminology refers only to active recruitment for this program. Clinicaltrials.gov defines suspended as: “recruiting or enrolling participants has halted but potentially will resume”. Patients already enrolled in the program continue to receive investigational enzyme.

In the coming months Genzyme will be reviewing the overall clinical development program, and the resources available to support the Late-Onset Expanded Access Program with the hope of implementing another round of enrollment in this program.


The Pompe Disease Registry is a voluntary program that will do much in the way of improving knowledge about Pompe by documenting the course of the disease, clinical outcomes, and disease management.

The Pompe Disease Registry has been initiated, and some physicians are being sent the materials necessary to begin enrolling. However, this process can take up to several months, as physicians are required to pass the Registry Protocol through their hospital’s institutional review board (IRB), or ethics committee. Once this process is complete, a site can begin enrolling patients. The first patient has been enrolled at this time, and Genzyme expects a number of additional sites to get IRB approval and have the ability to enroll patients in mid-2004. Genzyme continues to encourage physicians to sign up for the Registry and begin the IRB approval process.

At this time, Pompe patients who are not enrolled in an active clinical trial or the Expanded Access Program, are eligible to participate in the Registry through their treating physicians. It is hoped that in addition to contributing to the larger body of knowledge about Pompe, that the Registry will enable participating physicians to learn about this disease from each other, and that it will facilitate an increased awareness and knowledge of Pompe Disease as well as the standard of care for Pompe patients.

All Pompe patients who are not currently participating in a clinical trial or in the Expanded Access Program can speak to their treating physicians about the Registry and ask them to call Genzyme to obtain additional information. Please note that participation in the Registry does not preclude patients from qualifying for any future clinical program for which they may be eligible. For more information on the Pompe Disease Registry, visit the website www.Pomperegistry.com.

Additional Information

Genzyme will continue to provide updated information and keep the patient community informed of developments in the Pompe Program through the Medical Information group and through external communications. Genzyme will also continue to work with organizations such as the International Pompe Association (IPA) to ensure that accurate and timely information is available. The IPA and their affiliated organizations, as well as other patient organizations have been a primary source of information and support for individuals and families affected by Pompe Disease.

Physicians or patients who would like more information about clinical studies, the Expanded Access Program, or the Pompe Disease Registry may contact Genzyme’s Medical Information department.

The email address in the United States is medinfo@genzyme.com and the telephone number is 800-745-4447 or 617-768-9000. In Europe, the email address is eumedinfo@genzyme.com and the telephone number is 31-35-699-1499. Other areas may contact the local Genzyme office, if available, or contact Genzyme Medical Information in the United States.

For more information about Pompe disease as well as a list of Pompe patient organizations, please visit www.pompe.com. , or www.worldpompe.org

IPA Secretariat, June 2004

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