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Registry for tracking Fabry disease and pregnancy outcomes

Fabry Disease Registry Protocol

Observational Sanofi · NCT00196742

This study is tracking the health of pregnant women with Fabry disease to see how pregnancy affects them and their babies.

Quick facts

Study typeObservational
Enrollment9000 (estimated)
SexAll
SponsorSanofi Industry-sponsored
Locations283 sites (Birmingham, Alabama and 282 other locations)
Trial IDNCT00196742 on ClinicalTrials.gov

What this trial studies

The Fabry Disease Registry is an international observational program that monitors clinical outcomes for patients diagnosed with Fabry disease, regardless of their treatment status. It aims to enhance understanding of the disease's variability and progression, assist in developing monitoring recommendations, and evaluate the long-term safety and effectiveness of Fabrazyme®. The Pregnancy Sub-registry specifically focuses on pregnant women with Fabry disease, collecting data to better understand the implications of pregnancy in this population. Participation involves routine clinical assessments as determined by the treating physician.

Who should consider this trial

Good fit: Ideal candidates include individuals with a confirmed diagnosis of Fabry disease who have provided informed consent, as well as pregnant women enrolled in the registry.

Not a fit: Patients without a confirmed diagnosis of Fabry disease or those who do not provide informed consent may not benefit from this registry.

Why it matters

Potential benefit: If successful, this registry could lead to improved patient care and management strategies for individuals with Fabry disease.

How similar studies have performed: Other observational studies have successfully contributed to understanding rare diseases, making this approach both valuable and tested.

Eligibility criteria

Show full inclusion / exclusion criteria 
Inclusion Criteria

* 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.

Exclusion Criteria Fabry Registry: There are no exclusion criteria. Fabry Pregnancy Sub-registry: There are no exclusion criteria.

Where this trial is running

Birmingham, Alabama and 282 other locations

+233 more sites — see ClinicalTrials.gov for the full list.

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov → Find more trials like this →
Conditions Fabry Diseasealpha Galactosidase AaGALFabryGL3Anderson-Fabry DiseaseangiokeratomasGLA deficiency
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.