Learning About Pompe
Managing Pompe
Treatment Options
Standards of CareClinical Research
In the United States, new drugs can only be approved after going through a comprehensive review by the Food and Drug Administration (FDA). Very few drugs meet the FDA’s rigorous standards to be tested in humans. In fact, an estimated five out of 5,000 drugs that enter preclinical testing make it to clinical trials.
For a rare disorder like Pompe disease, a clinical trial may give patients the chance to try an experimental treatment. To join a clinical trial, the volunteer patients must meet certain enrollment criteria based on their age, gender, the stage and severity of their disease, and other factors.
The clinical investigator or doctor running the study must explain both the risks and possible benefits of the trial before volunteers can agree to participate. Volunteers must sign a document called an Informed Consent Form, in which they acknowledge that they have been advised of these risks and benefits and voluntarily agree to participate in the trial. Patients can withdraw from such a trial at any time. This process of informed consent and other rules are in place to help protect the health and safety of patients.
Another way that researchers are able to learn more about Pompe disease is through the Pompe Registry, sponsored by Genzyme. 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.
