Pompe Program Update July 2005


Steady progress is being made in all areas of the Genzyme Pompe program and the goal of obtaining worldwide regulatory approval for the investigational rhGAA enzyme remains one of Genzyme’s highest priorities.

The screening study for late-onset Pompe patients has begun at sites in the US and the Late-Onset Treatment Study (LOTS) is still on-schedule for initiation in the third quarter of 2005 (August-September). In addition, Genzyme has “re-opened” the Late-Onset Expanded Access Program. This program will be open to a limited number of patients world-wide, and the process of identifying and enrolling patients has begun. At this time there are over 130 total patients receiving the investigational enzyme through clinical studies and expanded access programs.


The submission for regulatory approval of investigational enzyme (rhGAA) in Europe is currently under review by the authorities there (European Agency for the Evaluation of Medicinal Products or EMEA). Genzyme will be working closely with the authorities in Europe during this time and it is anticipated that there will be a response to the submission in early 2006.

The regulatory submission to the FDA in the US (Biologics License Application or BLA) is still on track for mid-2005 and Genzyme will issue a press release when this event occurs.

Pompe Program Update

Infantile-Onset Clinical Trials and Expanded Access Program

Genzyme continues to enroll eligible patients in the Infantile-Onset Expanded Access Program. The early identification and diagnosis of the children who have this lethal and rapidly progressive form of Pompe disease is of utmost importance for optimal patient management.

The inclusion/exclusion criteria for this program are posted on clinicaltrials.gov, and 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. 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 Observational Study

The Late-onset Prospective Observational Study (LOPOS) recently concluded, and data from this study have been used in the design of the placebo-controlled Late-Onset Treatment Study (LOTS).

Late-Onset Screening Study

The late-onset screening study is currently enrolling patients in North America, and information about this study and the locations of the investigational sites currently conducting this study are available on the clinicaltrials.gov website. This one-day screening study is intended to confirm a deficiency in enzyme activity and to expedite the enrollment of potentially eligible patients for clinical studies in Pompe disease. It can take up to 4-6 weeks to obtain the results of this test. Participating in this screening study is not a requirement for the Late-Onset Treatment Study (LOTS), and those who want to be included, but are not able to participate, will still be eligible for the LOTS clinical trial.

Late-Onset Treatment Study (LOTS)

In order to participate in the LOTS clinical trial, there will be additional procedures to establish eligibility (beyond those performed as part of the screening study), according to the specific inclusion/exclusion criteria. All potential participants will have to go through these procedures, including both LOPOS patients and those that have participated in the late-onset screening study.

At this time, it is anticipated that the LOTS clinical trial will begin in the third quarter of 2005 (August-Sept) and that approximately 72 patients will be enrolled. Every effort is being made to commence this study as soon as possible and more information about the specific inclusion/exclusion criteria and the timing of the study will be forthcoming. These details will be posted on the NIH website, clinicaltrials.gov once the study is initiated. If you have questions about this study, please contact Genzyme Medical Information (contact info below).

Late-Onset Expanded Access Program (LO-EAP)

The Late-Onset Expanded Access Program is now recruiting and enrolling a limited number of additional patients in all regions. All inquiries regarding this program should be directed to Genzyme Medical Information, through a treating physician. The medical eligibility criteria are listed on clinicaltrials.gov.

Expanded access programs specific to individual countries

The governments of several European countries have authorized the use of investigational rhGAA prior to approval, outside of clinical trials. These are country-specific regulatory mechanisms, such as the ATU program (Autorisation Temporaire d’ Utilisation) in France which allow pre-approval access to investigational drugs. Genzyme is working within the frameworks of these programs, and with the local treating physicians to provide investigational enzyme to patients on a case-by-case in these countries. Genzyme will continue to pursue programs in countries with such mechanisms.

Pompe Disease Registry

The Pompe Registry has enrolled almost 80 patients from around the world. Approximately 30 physicians now actively participate in the Pompe Registry. All Pompe patients who are not receiving investigational enzyme replacement therapy are eligible to participate in the Registry through their treating physicians. However, participation in the Registry does not preclude patients from qualifying for any future clinical program for which they may be eligible.

The Registry is a voluntary program that Genzyme feels will do much in the way of improving knowledge about Pompe by documenting the course of the disease, clinical outcomes, and disease management. Participating patient information is maintained as secure and confidential. The Registry allows participating physicians to monitor their patient’s progress using reports generated by the Registry, and they can compare clinical information from their Pompe patients with the collective data in the Registry. Genzyme continues to encourage physicians to participate and enroll patients in the Pompe Registry


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 our Medical Information group and through external communications. We 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 are 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 [email protected] and the telephone number is 800-745-4447 or 617-768-9000. In Europe, the email address is [email protected] and the telephone number is 31-35-699-1499. Other areas may contact your local Genzyme office, if available, or contact Genzyme Medical Information in the United States.

For more information about Pompe disease from Genzyme, please visit www.pompe.com.