Fabry Disease Registry

This study is currently recruiting participants. (see Contacts and Locations)

Verified July 2016 by Sanofi

Sponsor:

Information provided by (Responsible Party):

Sanofi ( Genzyme, a Sanofi Company )

ClinicalTrials.gov Identifier:

NCT00196742

First received: September 13, 2005

Last updated: July 8, 2016

Last verified: July 2016

History of Changes

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 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; and
To evaluate the long-term safety and effectiveness of Fabrazyme®

Condition
Fabry Disease


Study Type:	Observational
Study Design:	Observational Model: Cohort
Official Title:	Fabry Disease Registry

Resource links provided by NLM:

Genetics Home Reference related topics: Chanarin-Dorfman syndrome Fabry disease Schindler disease cholesteryl ester storage disease succinic semialdehyde dehydrogenase deficiency

Genetic and Rare Diseases Information Center resources: Fabry Disease Sphingolipidosis

U.S. FDA Resources

Further study details as provided by Sanofi:

Primary Outcome Measures:

To evaluate the long-term safety and effectiveness of Fabrazyme® [ Time Frame: 15 years ] [ Designated as safety issue: No ]


Estimated Enrollment:	9000
Study Start Date:	July 2001
Estimated Study Completion Date:	July 2030
Estimated Primary Completion Date:	July 2030 (Final data collection date for primary outcome measure)

Detailed Description:

The Fabry Registry is an international program; in addition to the central contact information provided under the "Location" heading, patients may contact:

In Asia-Pacific - Vivian Liu, +65-6431-2548, Vivian.liu@genzyme.com
In Europe - +31-35-699-1232, europe@FabryRegistry.com
In Latin America - +617-591-5500, help@FabryRegistry.com
In North America - +617-591-5500, help@FabryRegistry.com

Eligibility


Ages Eligible for Study:	Child, Adult, Senior
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

Study Population

All patients with a confirmed diagnosis of Fabry disease are eligible for inclusion in the Registry.

Criteria

Inclusion Criteria 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.

Exclusion Criteria There are no exclusion criteria in this Registry. Patients are allowed to participate in other clinical studies and may be receiving different therapies to treat their disease; however, enrollment in other clinical studies should be noted on the Registry case report forms (CRFs).

Contacts and Locations

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00196742

Contacts


Contact: For site information, send an email with site number to		Contact-Us@sanofi.com
Contact: Fabry Registry HelpLine	617-591-5500	help@fabryregistry.com

Show 64 Study Locations

Sponsors and Collaborators

Genzyme, a Sanofi Company

Investigators


Study Director:	Medical Monitor	Genzyme, a Sanofi Company

More Information

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, Lemay R, Linthorst GE, Packman S, Scott CR, Waldek S, Warnock DG, Weinreb NJ, Wilcox WR. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. J Med Genet. 2015 May;52(5):353-8. doi: 10.1136/jmedgenet-2014-102797. Epub 2015 Mar 20.


Responsible Party:	Genzyme, a Sanofi Company
ClinicalTrials.gov Identifier:	NCT00196742 History of Changes
Other Study ID Numbers:	FABRY REGISTRY DIREGC07006
Study First Received:	September 13, 2005
Last Updated:	July 8, 2016
Health Authority:	United States: Institutional Review Board

Keywords provided by Sanofi:


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

Additional relevant MeSH terms:


Fabry Disease Sphingolipidoses Lysosomal Storage Diseases, Nervous System Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases Nervous System Diseases Cerebral Small Vessel Diseases Cerebrovascular Disorders	Vascular Diseases Cardiovascular Diseases Genetic Diseases, X-Linked Genetic Diseases, Inborn Metabolism, Inborn Errors Lipidoses Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases Metabolic Diseases Lipid Metabolism Disorders

ClinicalTrials.gov processed this record on September 26, 2016

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