Genzyme collaborate with patient organizations globally to communicate with people affected by Pompe disease. As part of these efforts, Genzyme and the International Pompe Association a worldwide federation of Pompe disease patient groups, jointly publish regular updates on the status of Enzyme's program to develop a treatment for Pompe disease. We invite you to read the latest update here.


Genzyme continues to make progress within its program to develop a treatment for Pompe disease, which is currently one of the largest research and development initiatives in Genzyme's history. The company is currently conducting clinical trials evaluating the safety and efficacy of enzyme replacement therapy with recombinant human acid-glucosidase (rhGAA)

In March 2003, Genzyme began enrolling patients in a clinical trial of its recombinant human acid alpha-glucosidase enzyme (rhGAA). This trial (study 1702) will include up to 16 children between the ages of six months and three years with the infantile-onset form of Pompe disease, in whom symptoms presented during the first year of life. It is scheduled to last one year Detailed information about the trial's entry criteria and protocol can be found at http://clinicaltrials.gov. At present, enrollment is open at five research hospitals (Duke University Medical Center, Cincinnati Children's Hospital Medical Center, and the University of Florida at Gainesville in the United States, the Royal Manchester Children's Hospital in the United Kingdom, and Hospital Universitaire Debrousse in Lyon, France.

Genzyme expects to begin enrollment in a second trial (study 1602) in the spring of 2003, which will include up to 16 infants younger than six months of age at the time of their first treatment Detailed information about the trial's entry criteria and protocol can be found at http://clinicaltrials.gov. Genzyme currently expects to complete enrollment in both studies this year, and expects to begin clinical trials for patients with the late-onset form of Pompe disease once a sufficient supply of rhGAA is available.


Genzyme is working very hard, and investing significant resource, to increase its supply of rhGAA and expand its capacity to manufacture larger quantities of the enzyme. To date, Genzyme believes that it has developed the sustainable capacity to produce enough rhGAA to conduct the two announced infantile-onset clinical studies and to support patients who took part in clinical studies of enzymes derived from the previously developed processes.

Manufacturing recombinant enzymes is a highly complex, resource-intensive and time-consuming endeavor. The process involves cultivating millions of living mammalian cells under carefully controlled conditions within sophisticated vessels called bioreactors. These cells are engineered to produce high levels of the desired human enzyme. Over the course of several months of cell culture, the enzyme is harvested from the bioreactor and highly purified, tested for quality, and ultimately prepared for administration to patients. When companies such as Genzyme first begin manufacturing these enzymes, they necessarily have to first develop the process at a small scale, within a small bioreactor, in order to refine and optimize it before moving on to a larger scale. This process takes a substantial amount of time, analysis, and resources.

Genzyme is currently producing rhGAA on this smaller scale at its manufacturing facilities, while simultaneously developing the process to produce the enzyme in larger-scale bioreactors at its primary enzyme manufacturing facility in Allston, Massachusetts, USA. This effort is progressing, and the company expects to begin producing rhGAA at the Allston facility in 2004.


Genzyme is conducting clinical trials to determine the safety and effectiveness of rhGAA, which is an investigational enzyme replacement therapy for Pompe disease. Genzyme intents to seek product registrations globally based on the results of studies 1602 and 1702, and on previous studies of enzyme replacement therapy for Pompe disease. Genzyme is continuing its discussions with regulatory authorities in Europe regarding the content and timing of a marketing authorization application. It is please that these authorities recognize the urgent medical needs of Pompe patients and are working constructively with the company to enable it to file for approval as quickly as possible. Genzyme hopes to have these same discussions with regulatory authorities in the United States and other countries.


Sufficient quantities of rhGAA are available to conduct the two planned infantile-onset clinical studies and to support patients from earlier clinical studies of enzymes derived from the previously developed processes. Until adequate product inventory exists, priority must be given to continue supplying enzyme to these patients and to the patients enrolled in the clinical studies, which are necessary to secure product registrations worldwide. Only with this focus can we gather the data required by regulatory agencies so that a treatment may ultimately be made available to all patients who need it.

Genzyme has received requests for the rhGAA for patients who do not qualify for studies 1602 or 1702. A senior management committee with Genzyme closely monitors material inventory and should material become available, Genzyme hopes to explore making it available on an expanded access basis. Any process for doing so will need to be conducted in coordination with regulatory authorities. At the moment, however, Genzyme must focus on using all available enzymes to conduct the clinical studies that it hopes will demonstrate that rhGAA is efficacious and safe, so that it can apply for approval for medical use as soon as possible.


Genzyme is please to announce the launch of www.pompe.com, a website dedicated to providing people with Pompe disease, their families, physicians and the entire Pompe Community with comprehensive information on Pompe Disease. Whether interested in learning more about the disease or trying to understand the differential diagnoses, visitors to pompe.com can find detailed information on a broad array of these and other important topics, as well as a list of resources available for help in addressing many aspects of the disease. The site was created with input from people living with the disease and physicians throughout the community, and will be updated regularly as more information about the disease becomes known.