Fabry Disease Registry & Pregnancy Sub-registry

Observational Study on Fabry Disease Outcomes

Recruiting
All
Phase N/A
9000 participants needed
86 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 17 Apr 2024. Study ID: NCT00196742

This study investigates Fabry disease, a genetic condition that affects the body's ability to break down a specific type of fat due to a deficiency in the enzyme alpha-galactosidase (αGAL). The purpose of the study is to understand the variability, progression, and natural history of Fabry disease, including in females who carry one copy of the genetic mutation. The study also aims to help develop guidelines for patient monitoring and care.

Participants in the study will undergo clinical assessments as part of their regular care, with no experimental treatments involved. For pregnant women enrolled in the study, additional data will be collected about pregnancy outcomes and infant growth up to 36 months after birth, if they consent to this data collection.

  • Who can participate: Individuals with a confirmed diagnosis of Fabry disease can participate. This includes anyone with documented low levels of the αGAL enzyme or a genetic mutation causing the disease. Pregnant women already enrolled in the Fabry Registry can join the Pregnancy Sub-registry.
  • Study details: Participants will undergo clinical assessments as part of their routine care. For those in the Pregnancy Sub-registry, data about their medical history, pregnancy, and infant growth will be collected if consent is provided.

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