Fabry Disease Registry & Pregnancy Sub-registry

Study on Health Outcomes in Fabry Disease

Recruiting
All
Phase N/A
9000 participants needed
171 Locations

Study Overview

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 Criteria

You may be eligible for this study if you meet the following criteria:

  • Conditions: Fabry Disease
  • Gender: All

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.

Updated on 20 Nov 2024. Study ID: NCT00196742

This study investigates the clinical outcomes of patients with Fabry disease, a rare genetic disorder that affects the body's ability to break down a specific type of fat. The purpose of this study is to understand how the disease progresses and varies among patients, including women who carry the gene but may not show symptoms. Participants will not receive any experimental treatments, but their health will be monitored as part of their regular care.

Participants in the study will undergo clinical assessments as determined by their doctors. For pregnant women enrolled in the Fabry Pregnancy Sub-registry, additional information about their pregnancy and the growth of their infants up to 36 months after birth will be collected. This data helps researchers understand the impact of Fabry disease during pregnancy and early childhood.

  • Who can participate: Individuals of any age with a confirmed diagnosis of Fabry disease, based on specific enzyme activity tests or genetic testing, can join the study. Pregnant women with Fabry disease can join the Sub-registry if they provide consent.
  • Study Details: Participants will undergo regular health check-ups as part of their usual care. Pregnant participants may have additional data collected about their pregnancy and infant's growth. No investigational treatments are provided.

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What happens next?
  • You can expect the study team to contact you via email or phone in the next few days.
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