ClinicalTrials.gov record NCT00196742

Fabry Disease Registry & Pregnancy Sub-registry

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 17, 2026

Fabry Disease Registry Protocol

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
SexAll
LocationArgentina, Australia, Belgium, Brazil, Bulgaria, Canada, Chile, China, Colombia, Croatia, Czechia, Denmark, Estonia, Finland, France, Germany, Hong Kong, Hungary, India, Indonesia, Italy, Japan, Lithuania, Malaysia, Netherlands, Norway, Peru, Philippines, Poland, Portugal, Romania, Russia, Saudi Arabia, Serbia, Singapore, Slovakia, South Korea, Spain, Sweden, Taiwan, Thailand, United Kingdom, United States, Vietnam
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

The Fabry Registry is an ongoing, international, multicenter observational program that collects routine clinical data from people with confirmed Fabry disease, irrespective of treatment. No experimental intervention is given; care is determined by each patient's treating physician. A Pregnancy Sub-registry collects pregnancy and birth information and, with consent, infant growth data up to 36 months postpartum.

What it is studying. This registry aims to describe the variability and progression (natural history) of Fabry disease, characterize the Fabry patient population, and support development of monitoring recommendations. It also collects data to evaluate long-term safety and effectiveness of Fabrazyme® and to track pregnancy outcomes and infant growth in enrolled women.

What the researchers hope to learn. Enhance understanding of variability, progression, and natural history of Fabry disease (including heterozygous females); characterize the Fabry population; support development of monitoring recommendations and reports on patient outcomes; evaluate long-term safety and effectiveness of Fabrazyme®; and document pregnancy outcomes and infant growth.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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. 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.

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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.

Study description and what participation involves

The registry record has no detailed description beyond the summary above.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

No experimental treatment is given. Participants allow collection of clinical information from their routine care and may undergo clinical assessments as determined by their treating physician. Women in the Pregnancy Sub-registry will have medical and obstetric history, pregnancy and birth data collected and, if they consent, infant growth data through 36 months postpartum. Joining requires signing the registry consent and authorization forms (and a separate consent for the Pregnancy Sub-registry).

How the study is structured. An ongoing, international, longitudinal observational cohort. Participants continue to receive usual care; the registry records clinical assessments and other data gathered during routine visits. No experimental treatments are assigned. A voluntary Pregnancy Sub-registry collects obstetric, birth, and infant follow-up data (up to 36 months) when consented. Outcomes may be recorded long-term (registry outcomes are tracked over many years).

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in Argentina, Australia, Belgium, Brazil, Bulgaria, Canada, Chile, China, Colombia, Croatia, Czechia, Denmark, Estonia, Finland, France, Germany, Hong Kong, Hungary, India, Indonesia, Italy, Japan, Lithuania, Malaysia, Netherlands, Norway, Peru, Philippines, Poland, Portugal, Romania, Russia, Saudi Arabia, Serbia, Singapore, Slovakia, South Korea, Spain, Sweden, Taiwan, Thailand, United Kingdom, United States, Vietnam. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Fabry disease

Clinical trials47 trials listed for Fabry diseaseEvery trial the registry lists for Fabry disease, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Fabry disease researchLatest monthly update: September 2026. Includes: SGLT2 outcome link. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Jul 31, 2001
Primary completion
Jan 31, 2034 (estimated)
Study completion
Jan 31, 2034 (estimated)
Target enrollment
9000 participants (estimated)
Last updated on registry
Jun 23, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Genzyme, a Sanofi Company

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (284)

  • University of Alabama Birmingham- Nephrology- Site Number : 840018Completed

    Birmingham, Alabama, 35294 · United States

  • University of Alabama Birmingham- Nephrology- Site Number : 840073Recruiting

    Birmingham, Alabama, 35294 · United States

  • Phoenix Children's Hospital- Site Number : 840003Recruiting

    Phoenix, Arizona, 85016 · United States

  • University of Arizona- Site Number : 840015Recruiting

    Tucson, Arizona, 85724 · United States

  • Arkansas Children's Hospital- Site Number : 840109Recruiting

    Little Rock, Arkansas, 72202 · United States

  • University of Arkansas for Medical Sciences- Site Number : 840113Recruiting

    Little Rock, Arkansas, 72205 · United States

  • University of California at Irvine- Site Number : 840036Recruiting

    Irvine, California, 92697 · United States

  • Southern California Permanente Medical Group- Site Number : 840108Recruiting

    Los Angeles, California, 90027 · United States

  • USC Health Sciences Center Dept of Genetics- Site Number : 840082Completed

    Los Angeles, California, 90033 · United States

  • University Of California Los Angeles- Site Number : 840088Recruiting

    Los Angeles, California, 90095 · United States

Terms used on this page · explanations by MedicalUpdates.ai

Registry
An organised collection of information about people with a particular condition, gathered over time for research. Joining a registry usually means sharing medical information, not receiving a treatment.
natural history
A study that follows how a condition changes over time without assigning an experimental treatment. It may involve study visits and tests, and is often used to plan future trials.
standard of care
Treatment generally considered appropriate for a condition in a particular clinical setting. It can vary by patient, place and over time. In many studies the new treatment is added to, or compared with, standard of care.
informed consent
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
exclusion criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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