Fabry Registry

The Fabry Registry is a program sponsored and administered by Genzyme Corporation, created to help increase the understanding of Fabry disease.  The Fabry Registry is overseen by a board of advisors which consists of a group of physicians with experience in researching and treating people with Fabry disease. This board of advisors helps to maintain the scientific integrity of the Fabry Registry.

Who can participate?

All people who have Fabry disease are eligible to participate, regardless of whether they are on treatment. Your doctor is the one who will enroll you in the Fabry Registry. He or she will explain the program, and will ask you to sign an authorization form to participate in the Fabry Registry. If your doctor has not mentioned the Registry to you and you are interested in participating, you should ask him/her about potential enrollment. It is important to note that your participation is completely voluntary. You may decline to participate or withdraw authorization at any time, and without affecting your medical treatment.

What does the Fabry Registry do?

Because Fabry disease affects a small number of people, it can be difficult to collect information about how the disease progresses. The Fabry Registry is a global tool that collects this critical information so that physicians and the overall Fabry community can continue to increase their knowledge on the disease. Through the Registry, physicians who are managing a least one patient with Fabry disease can submit clinical information about their patients. Clinical information provided by participating physicians to the Fabry Registry helps collect data on a variety of important areas in Fabry disease, including:

  1. Disease progression in males and females
  2. Long-term effects of treatment
  3. Effect of treatment on pregnant women and offspring

Data collected through the Fabry Registry and reports published using that data may be reported to regulatory authorities for a variety of purposes, including information regarding the use of enzyme replacement therapy (ERT), and any other appropriate regulatory purpose.

What does participation involve?

You will receive the same routine care by your doctor regardless of participation in the Fabry Registry. At your regular doctor visits, the medical information your doctor collects (such as information on your kidneys, heart, pain, hearing, quality of life, etc.) will be submitted to the Fabry Registry.

Patients should be aware that participation may involve long-term follow-up. Participation in the Fabry Registry will help to make sure that knowledge about Fabry disease keeps growing.

Why should I participate?

Data from the Fabry Registry has been instrumental in developing recommendations for monitoring patients with Fabry disease. Every physician and patient who participates should know that they are making an important contribution to our understanding of this disorder.”

William Wilcox, MD, PhD
Cedar-Sinai Medical Center

The Fabry Registry is an important resource for helping physicians and researchers increase their understanding of Fabry disease.

In addition to helping the wider Fabry community, you can individually benefit from participation in the Fabry Registry. When enrolled in the Registry, your physician can produce a Patient Case Report every time you have an appointment with him or her. This report can help give you and your physician a comprehensive overview of your health status. A case report can contain:

  • Graphs summarizing treatment history and status
  • Tables capturing important exam results
  • Graphs showing changes in kidney, heart and other organ systems
  • Charts highlighting quality of life measurements
  • Summary of treatment progress and medication interventions

Download a sample of a Patient Case Report

Fabry Registry participation will also enable your doctor to compare your status to others enrolled in the Registry.

How do I participate in the Fabry Registry?

Before you can participate in the Fabry Registry, your doctor must first contact the Fabry Registry to enroll as a participating physician. If you would like to participate and your physician is not enrolled, you should encourage him/her to find more information on the Registry on this website or at www.fabryregistry.com. Once your doctor is enrolled, you will be asked to sign a form that authorizes your medical information to be released to the Fabry Registry. After that point, your physician can enter your information into the registry to track your progress using the personalized Patient Case Reports.

Will my information be kept private?

Information that your doctor submits to the Fabry Registry will reference you by patient number and initials, not by name. Only your doctor will have access to both your name and patient number. Information submitted to the Fabry Registry will be maintained as confidential in accordance with applicable national privacy regulations and other state laws related to medical information.

Contact the Fabry Registry

For more information on the Fabry Registry, please visit www.fabryregistry.com or use the following contact information.

In the United States and non-European countries:

Fabry Registry
Genzyme Corporation
500 Kendall Street
Cambridge, MA 02142
USA

Telephone:
800-745-4447, x15500
617-591-5500
Email: contact us

Europe

Fabry Registry
Genzyme Europe BV
Gooimeer 10
NL 1411 DD Naarden
The Netherlands

Telephone: +31-35-699-1232
Fax: +31-35-699-8688
Email: Europe@fabryregistry.com