Fabry Disease Registry & Pregnancy Sub-registry

Genzyme

Status: Enrolling

Conditions: Fabry Disease

Study type: Observational

Funder types: Industry

Identifiers

NCT00196742

AGAL19211 (Other Identifier)

DIREGC07006

U1111-1294-8298 (Registry Identifier)

Details and patient eligibility

About

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.

Enrollment: 9,000 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

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.

Trial design

9,000 participants in 2 patient groups

Patients with Fabry disease

Description:

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

Description:

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.