Fabry Disease Registry & Pregnancy Sub-registry
Purpose
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.
Condition
- Fabry Disease
Eligibility
- Eligible Ages
- All ages
- Eligible Genders
- All
- Accepts Healthy Volunteers
- No
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 Design
- Phase
- Study Type
- Observational [Patient Registry]
- Observational Model
- Cohort
- Time Perspective
- Other
Arm Groups
| Arm | Description | Assigned Intervention |
|---|---|---|
| Patients with Fabry disease | 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 | 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. |
Recruiting Locations
Kansas City, Kansas 66160
More Details
- Status
- Recruiting
- Sponsor
- Genzyme, a Sanofi Company