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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What is REPLAGAL®?

REPLAGAL® (agalsidase alfa) is a human form of enzyme alpha-galactosidase A (a-Gal A) manufactured in a human cell line by gene activation. REPLAGAL is an investigational enzyme replacement therapy (ERT) for Fabry disease in the U.S.

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.

Recently, Fabry patients and their physicians have demonstrated a great deal of interest in the U.S. treatment protocol and generated a rapid increase in demand for REPLAGAL over the past few weeks. Due to this high demand, combined with the uncertainty inherent in any regulatory submission, Shire found it necessary to limit the number of participants. Enrollment in the U.S. treatment protocol was closed at 3 p.m. ET on Friday, June 25. All patients who are receiving REPLAGAL via the treatment protocol will continue to do so without interruption. In addition, Shire will continue to work with physicians whose patients had initiated screening for the treatment protocol but not yet started on treatment by the deadline so that they can begin therapy. Patients who had not initiated their screening by 3 p.m. ET on Friday, June 25 will be unable to join the treatment protocol. Shire is continuing to support emergency INDs for REPLAGAL in the U.S. Further information about that process can be obtained by calling OnePathSM at 1-866-888-0660. We are also seeking commercial approval for REPLAGAL. We are working on filing our rolling Biologics License Application (BLA) for REPLAGAL with the U.S. Food and Drug Administration. We filed the first section of our application in February 2010. Our next step is to submit the results of a pharmacokinetic study, which will complete the rolling BLA.

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: What will happen to patients who are in the process of switching to REPLAGAL but have not started to receive the drug yet? Will they be able to get it?

A: All qualified patients who initiated screening for the treatment protocol prior to Friday, June 25th at 3pm, either by their physician or a treatment site will be able to join the program. Shire is also continuing to support emergency INDs.

Q: What if I have a patient who has been thinking about REPLAGAL for a while but we never officially filed paperwork…did they miss their chance?

A: We closed enrollment at 3 p.m. ET on Friday, June 25th. If a patient had not initiated screening at that time, that patient will not be able to enroll in the treatment protocol. Shire continues to support emergency INDs in the U.S. for REPLAGAL.

Q: What if I have a critically ill patient who needs access to treatment right away?

A: Shire is continuing to support emergency INDs in the U.S. for REPLAGAL.

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: Is Shire experiencing manufacturing problems like Genzyme?

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

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: Why weren’t sites notified earlier about a potential limit for this protocol?

A: Shire is responding to a unique situation – a very high demand for REPLAGAL in the U.S. combined with the uncertainty inherent in any regulatory submission – in the most equitable way we can. Our number one priority is to ensure uninterrupted access to REPLAGAL for all patients who are currently receiving the product.

References
1. Meikle PJ, et al. Journal of the American Medical Association 1999; 281: 249-254.