Observes people with Fabry disease over time, including pregnancy
Follows people with Fabry disease through routine care, with pregnancy outcomes tracked.
Key facts
- Who runs it
- Genzyme, a Sanofi Company
- Where
- Sofia, BulgariaSee the 2 sitesAlso in 43 other countries, 282 sites
- Trial code
- NCT00196742
- U1111-1294-8298
- Registry title
- Fabry Disease Registry & Pregnancy Sub-registry
- Status
- Recruiting
- People taking part
- 9,000 people, planned
- Started
- 31 Jul 2001
- Expected to end
- 31 Jan 2034
- Type of study
- Observational, 2 groups
- Record updated
- 14 October 2026
Who can take part
AI summary
From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.
The trial is looking for people with a confirmed diagnosis of Fabry disease. Women in the registry who are or were pregnant can also join the pregnancy sub-registry.
- Sex
- All sexes can join.
- Disease stage
- Confirmed Fabry disease, shown by low alpha-galactosidase enzyme activity in plasma or leukocytes and/or a change in the gene for this enzyme.
- Earlier treatment
- Treatment status does not matter. People with or without treatment can join.
- Biomarker or test result
- Low alpha-galactosidase (αGAL) enzyme activity and/or mutation(s) in the gene coding for αGAL.
Main reasons for not taking part
- The record lists no exclusion criteria.
The registry criteria, word for word
Show all 2 criteriaShow less
Who can take part
- 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
Where in Bulgaria
Also in 43 other countries, 282 sites
- SofiaHospital not named in the registryContact: Trial TransparencyTaking people
- SofiaHospital not named in the registryContact: Trial TransparencyNo longer taking part
About the trial
What the trial wants to find out
The Fabry Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Fabry disease, irrespective of treatment status. No experimental intervention is involved; patients in the Registry undergo clinical assessments and receive care as determined by the patient's treating physician.
Read full original descriptionShow less
The primary objectives of the Registry are:
* To enhance the understanding of the variability, progression, and natural history of Fabry disease, including heterozygous females with the disease; * To assist the Fabry medical community with the development of recommendations for monitoring patients and reports on patient outcomes to help optimize patient care; * To characterize and describe the Fabry population as a whole; * To evaluate the long-term safety and effectiveness of Fabrazyme®
Fabry Pregnancy Sub-registry: This Sub-registry is a multicenter, international, longitudinal, observational, and voluntary program designed to track pregnancy outcomes for any pregnant woman enrolled in the Fabry Registry, regardless of whether she is receiving disease-specific therapy (such as enzyme replacement therapy with agalsidase beta) and irrespective of the commercial product with which she may be treated. Data from the Sub-registry are also used to fulfill various global regulatory requirements, to support product development/reimbursement, and for other research and non-research-related purposes. No experimental intervention is given; thus a patient will undergo clinical assessments and receive standard of care treatment as determined by the patient's physician. If a patient consents to this Sub-registry, information about the patient's medical and obstetric history, pregnancy, and birth will be collected, and, if a patient consents to data collection for her infant, data on infant growth through month 36 postpartum will be collected.
The 2 groups in the trial
- Patients with Fabry disease
No experimental intervention is given. A patient with Fabry Disease will undergo clinical assessments and receive standard of care treatment as determined by the patient's physician.
- Pregnant women with confirmed diagnosis of Fabry
No experimental intervention is given. Pregnant women with confirmed diagnosis of Fabry that are participating in the Fabry Registry and consented to participate in the Fabry Sub-registry, regardless of whether she is receiving disease-specific therapy (such as ERT with agalsidase beta) and irrespective of the commercial product with which she may be treated.
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorData and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Official title
- Fabry Disease Registry Protocol
- Plain-language title
- Observes people with Fabry disease over time, including pregnancyGenerated from the registry record. The registry title is the official one.
- AI summary
- From the trial's eligibility criteria. Read by machine on 12 November 2026.
- Record updated
- 14 October 2026