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Fabry Disease Registry & Pregnancy Sub-registry

This is an ongoing, international study for people with Fabry disease. It's called a registry because it collects information about your routine medical care and how your disease progresses over time, whether or not you are receiving treatment. The study aims to better understand Fabry disease, including how it varies and develops, and to help doctors improve care for all patients. If you have a confirmed diagnosis of Fabry disease (meaning a documented problem with the alpha-galactosidase enzyme or a specific gene mutation), you may be able to join. For pregnant individuals with Fabry disease, there's also a sub-registry to track pregnancy outcomes and infant growth. The study will follow participants for 33 years to see the long-term effects of Fabrazyme® and pregnancy outcomes.

Study design
This is an observational study, meaning researchers will collect information about your health without giving you any experimental treatments. It plans to enroll up to 9000 participants.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
Participants in the Fabry Registry will be followed for 33 years to evaluate the long-term safety and effectiveness of Fabrazyme®. Participants in the Fabry Pregnancy Sub-registry will be followed for 33 years to assess pregnancy outcomes and infant growth.

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NCT00196742

Fabry Disease Registry & Pregnancy Sub-registry

Recruiting
Not specifiedAll AgesObservational
Genzyme, a Sanofi Company
~9,000 participants
Updated 2026-06-23 on ClinicalTrials.gov

At a glance

Recruiting sites
232 of 284 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Fabry Registry: To evaluate the long-term safety and effectiveness of Fabrazyme®
Measured over 33 years
+1 more outcome measured

Conditions

Fabry Disease

Explore related trials

Fabry DiseaseAlpha-galactosidaseGALACTOSIDASE, ALPHA

Where it's being run

284 sites across 122 states
Taiwan15
California11
Italy9
Belgium8
New York7
Argentina7
Ohio6
China6

Study leadership

  • Study Director · STUDY_DIRECTOR · Genzyme, a Sanofi Company

Who to contact

Trial Transparency
[email protected]
800-633-1610 · ext. option 6
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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

Fabry Registry: All patients with a confirmed diagnosis of Fabry disease who have signed the informed consent and patient authorization form(s) are eligible for inclusion. Confirmed diagnosis is defined as a documented deficiency in plasma or leukocyte αGAL (alpha-galactosidase) enzyme activity and/or mutation(s) in the gene coding for αGAL.
Fabry Pregnancy Sub-registry:
Eligible women must:
be enrolled in the Fabry Registry.
be pregnant, or have been pregnant with appropriate medical documentation available.
provide a signed informed consent and authorization form(s) to participate in the Sub-Registry prior to any Sub-Registry-related data collection being performed.

What this trial measures

  • Fabry Registry: To evaluate the long-term safety and effectiveness of Fabrazyme®33 years

    The primary purpose of this Registry is to describe the development and progression of Fabry disease in a representative global population. As Fabry is not a well-described disease this longitudinal program has a wide variety of "primary" outcomes including antibody testing as well as complication outcomes (eg, QoL, cognitive testing) which are measured over time. Additionally, as it is subject to what is collected by clinical sites at the time of visit it is unknown the amount of data that will be available for analyses.

  • Fabry Pregnancy Sub-registry: pregnancy outcomes, including complications and infant growth33 years

    The primary objective of this Sub-registry is to track pregnancy outcomes, including complications and infant growth, in all women with Fabry disease during pregnancy, regardless of whether they receive disease-specific therapy, such as ERT with agalsidase beta. This Sub-registry augments the routine monitoring and data collection recommended by the Fabry Registry. The Sub-registry aims to collect patient assessments from the ante- and perinatal periods and postpartum follow-up. Neonatal assessments and periodic pediatric assessments will also be collected.