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What is Fabry Disease?

Fabry disease is a lysosomal storage disorder (LSD) that interferes with the body’s ability to break down a specific fatty substance (globotriaosylceramide or Gb3) which accumulates within the body due to deficiency of a specific enzyme (α-galactosidase A).

Fabry disease affects both males and females and can present with a number of signs or symptoms of variable degree, such as cardiovascular and/or renal dysfunction, intense or burning pain, heat intolerance, skin lesions, gastrointestinal complaints, hearing loss, and ocular problems.

Fabry disease is a rare condition and it has been estimated that the incidence rate of Fabry disease in the general population is approximately one in 117,000 births.¹

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Patients

Dear Patients,

Thank you for taking the time to visit FabryPatients.com. We wanted to take this opportunity to provide you with a brief update concerning REPLAGAL^® (agalsidase alfa), Shire’s investigational enzyme replacement therapy for Fabry disease.

As you may be aware, REPLAGAL is not approved for commercial sale in the U.S., but in response to the almost year-long Fabrazyme supply shortage, and at the request of the FDA, Shire has made REPLAGAL available to U.S. patients through two early access programs – a treatment protocol (HGT-REP-059) and physician-initiated emergency IND requests. Shire also filed a Biologics License Application.

Fabry patients and their physicians have shown a great deal of interest in the U.S. treatment protocol. Therefore, we have been able to provide REPLAGAL to a large number of U.S. Fabry patients as part of this early access program.

However, due to a rapid increase in demand for REPLAGAL via the U.S. treatment protocol, combined with the uncertainty inherent in any regulatory submission, Shire found it necessary to limit the number of participants in the U.S. treatment protocol. As a result, enrollment in the U.S. treatment protocol closed at 3 p.m. ET on Friday, June 25. Shire understands the seriousness of Fabry disease and the consequences of treatment interruption. You can rest assured that we are committed to providing uninterrupted access to REPLAGAL for all patients who are currently receiving the product worldwide. We will also provide REPLAGAL to those patients who have successfully initiated screening for the treatment protocol but not yet started on therapy. However, any patients who had not initiated their screening by the June 25 deadline will be unable to participate in the treatment protocol. However, please note that Shire is continuing to support emergency INDs for urgent cases in the U.S.

We want to emphasize that this decision had nothing to do with product quality or manufacturing concerns.

If you have questions about the treatment protocol that you would like to pose to a Shire Medical Affairs representative, please use the link in the box below. We have also provided responses to some of the more frequently asked questions below.

Common Questions

Q: Will everyone who is currently enrolled in the treatment protocol or an emergency IND continue to receive REPLAGAL?

A: Yes. Shire has committed to provide uninterrupted access to REPLAGAL for all patients who are currently receiving REPLAGAL worldwide.

Q: Is Shire experiencing manufacturing problems like Genzyme?

A: No. Shire is not experiencing any manufacturing problems.

Q: Is there anything wrong with the manufacturing process, or the quality of REPLAGAL?

A: No. There is nothing wrong with Shire’s manufacturing or quality processes.

Q: Is there a supply issue?

A: No, Shire expects to have enough REPLAGAL supply and capacity to provide uninterrupted access for all patients who are currently receiving the drug.

Q: How does this action impact emergency IND patients? Is that an option?

A: Shire will continue to support emergency INDs in the U.S for REPLAGAL. Physicians can call OnePathSM at 1-866-888-0660 for additional information.