Patients & Families

An important program that Genzyme sponsors and administers is the Pompe Disease Registry. A disease registry is a database of medical information on patients with a specific condition that can be analyzed and used by physicians caring for patients with the same condition. Registries have proven to be especially valuable in rare diseases like Pompe. The collective information from the registry is used to increase the understanding of the disease and to monitor patients, with the ultimate goal of improving the clinical outcomes of patients.

Participating registry patients will visit their physician and continue to have regular check-ups. Some of the clinical information collected by the physician will be documented in the Registry. Examples of these data include cardiac, muscle, respiratory and quality of life information. Investigational enzyme replacement therapy is not offered as part of Registry participation. Only the patient’s physician will have access to their patient’s individual information. However, data on all registry patients can be viewed collectively and in an anonymous way by all participating physicians.

The primary objectives of the Registry are:

• To better understand the variability, progression, and natural history of Pompe disease.
• To help optimize patient care.
• To characterize and describe the Pompe patient population as a whole.

Confidentiality

Appropriate patient authorization will be obtained for each patient according to national privacy regulations and other state and local laws relating to medical information before data can be submitted to the Registry. To maintain patient confidentiality, all patients will be referenced by Registry identification (ID) number only, not by other unique identifiers. All physician information is also confidential. Furthermore, physician-specific patient data will remain confidential and will not be released to other physicians without prior written approval. No physician to physician data comparisons will be made. The Pompe Disease Registry also allows physicians participating in the Registry to compare clinical information from their Pompe patients with the collective data in the Registry.

Data will be analyzed and reported periodically and upon individual requests from participating physicians. Physicians are encouraged to collaborate, share observations, and generate hypotheses for evaluation, as well as assist in the collection of clinical data in an effort to guide and assess future therapeutic interventions. As a result, the Registry is a long-term program and will proceed indefinitely.

Call for more information

The Pompe Disease Registry is now enrolling physicians and patients at selected sites.

For more information about the Pompe Registry in the United States and non-European countries, please contact Genzyme (Cambridge, MA, USA) at (617) 591-5500 or 1-800-745-4447 (x15500). In Europe, please contact Genzyme (Naarden, The Netherlands) at +31-35-699-1232.

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