Fabry Disease Registry & Pregnancy Sub-registry

Study Overview
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Brief Summary
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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.

Official Title
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Fabry Disease Registry Protocol

Conditions
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Fabry Disease

Participation Criteria
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Eligibility Criteria
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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.
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Patients with Fabry disease<br>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<br>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. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Fabry Registry: To evaluate the long-term safety and effectiveness of Fabrazyme® | The primary purpose of this Registry is to describe the development and progression of Fabry disease in a representative global population. As Fabry is not a well-described disease this longitudinal program has a wide variety of primary outcomes including antibody testing as well as complication outcomes (eg, QoL, cognitive testing) which are measured over time. Additionally, as it is subject to what is collected by clinical sites at the time of visit it is unknown the amount of data that will be available for analyses. | 33 years | 
| Fabry Pregnancy Sub-registry: pregnancy outcomes, including complications and infant growth | The primary objective of this Sub-registry is to track pregnancy outcomes, including complications and infant growth, in all women with Fabry disease during pregnancy, regardless of whether they receive disease-specific therapy, such as ERT with agalsidase beta. This Sub-registry augments the routine monitoring and data collection recommended by the Fabry Registry. The Sub-registry aims to collect patient assessments from the ante- and perinatal periods and postpartum follow-up. Neonatal assessments and periodic pediatric assessments will also be collected. | 33 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Fabry Register: Monitor factors associated with the efficacy of Fabry disease treatments | A secondary endpoint is to monitor those factors associated with the efficacy of Fabry disease treatments. | 33 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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alpha Galactosidase A, aGAL (alpha-galactosidase), Fabry, GL3 (globotriaosylceramide), Anderson-Fabry Disease, angiokeratomas, GLA deficiency (gene deficiency), errors in metabolism