Fabry
Update

• Home
• Physicians
• Patients
• Learn More

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

Request Updates

Get updates by email:

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.

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 global demand for REPLAGAL, 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 a finite number of 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.

On August 3, 2010 Shire informed the FDA that it would not complete the rolling submission and withdrew its BLA in order to consider updating the submission with additional clinical data. The timing will need to be based on the accumulation and analysis of data and discussions with the FDA. In the meantime, in the US, we will continue to provide Replagal at no cost to patients who have been enrolled in the treatment protocol and who have obtained Replagal under emergency use.

If you have questions about the treatment protocol or emergency IND 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: Shire is experiencing an unprecedented global demand for REPLAGAL, triggered by the prolonged and severe shortage of Fabrazyme for Fabry disease. There are now more than 2,000 Fabry patients who are being treated with REPLAGAL in 45 countries outside of the US, which is double the number of patients at this time last year. Shire has now reached the maximum number of patients that we can supply with REPLAGAL this year. Shire continues to manufacture REPLAGAL and is able to supply all current patients on REPLAGAL without limitations. We are also continuing to support patients on the treatment protocol and emergency INDs (eINDs) in the U.S., and have committed to support an additional 20 eIND patients phased during the remainder of 2010.

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

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