Summary

Location
at San Francisco, California and other locations
Dates
study started
estimated completion

Description

Summary

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

Fabry Disease Registry Protocol

Keywords

Fabry Disease alpha Galactosidase A aGAL (alpha-galactosidase) Fabry GL3 (globotriaosylceramide) Anderson-Fabry Disease angiokeratomas GLA deficiency (gene deficiency) errors in metabolism

Eligibility

You can join if…

  • 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.

You CAN'T join if...

Fabry Registry: There are no exclusion criteria. Fabry Pregnancy

Sub-registry: There are no exclusion criteria.

Locations

  • University of California at San Francisco-Site Number:840051 accepting new patients
    San Francisco California United States
  • Children's Hospital Oakland-Site Number:840029 completed
    Oakland Florida 94609 United States
  • Stanford Unviersity MC Dept of Genetics-Site Number:840022 accepting new patients
    Palo Alto California 94305 United States

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
Genzyme, a Sanofi Company
ID
NCT00196742
Study Type
Observational [Patient Registry]
Participants
Expecting 9000 study participants
Last Updated