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Fabry Disease Registry & Pregnancy Sub-registry

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ClinicalTrials.gov Identifier: NCT00196742
Recruitment Status : Recruiting
First Posted : September 20, 2005
Last Update Posted : February 15, 2022
Sponsor:
Information provided by (Responsible Party):
Sanofi ( Genzyme, a Sanofi Company )

Study Description
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Brief 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.


Condition or disease
Fabry Disease

Study Design
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Study Type : Observational [Patient Registry]
Estimated Enrollment : 9000 participants
Observational Model: Cohort
Time Perspective: Other
Target Follow-Up Duration: 52 Weeks
Official Title: Fabry Disease Registry Protocol
Actual Study Start Date : July 31, 2001
Estimated Primary Completion Date : January 31, 2034
Estimated Study Completion Date : January 31, 2034

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Pregnancy

Groups and Cohorts
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Group/Cohort
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.


Outcome Measures
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Primary Outcome Measures :
  1. Fabry Registry: To evaluate the long-term safety and effectiveness of Fabrazyme® [ Time Frame: 33 years ]
    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.

  2. Fabry Pregnancy Sub-registry: pregnancy outcomes, including complications and infant growth [ Time Frame: 33 years ]

    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.



Secondary Outcome Measures :
  1. Fabry Register: Monitor factors associated with the efficacy of Fabry disease treatments [ Time Frame: 33 years ]
    A secondary endpoint is to monitor those factors associated with the efficacy of Fabry disease treatments.


Eligibility Criteria
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Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
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.

For Fabry Pregnancy Sub-registry: It is recommended that pregnancy data be collected on eligible women regardless of infant enrollment. In the event of patients having multiple pregnancies, data collection for each individual pregnancy is encouraged for all women enrolled in this Sub-Registry.

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.

Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00196742


Contacts
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Contact: Trial Transparency email recommended (Toll free number for US & Canada) 800-633-1610 ext 1 then # Contact-Us@sanofi.com
Contact: Fabry Registry HelpLine 617-591-5500

Locations
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Sponsors and Collaborators
Genzyme, a Sanofi Company
Investigators
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Study Director: Study Director Genzyme, a Sanofi Company
More Information
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Publications:

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

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Responsible Party: Genzyme, a Sanofi Company
ClinicalTrials.gov Identifier: NCT00196742    
Other Study ID Numbers: DIREGC07006
AGAL19211 ( Other Identifier: Genzyme, a Sanofi cmpany )
First Posted: September 20, 2005    Key Record Dates
Last Update Posted: February 15, 2022
Last Verified: February 14, 2022
Keywords provided by Sanofi ( Genzyme, a Sanofi Company ):
alpha Galactosidase A
aGAL (alpha-galactosidase)
Fabry
GL3 (globotriaosylceramide)
 Anderson-Fabry Disease
angiokeratomas
GLA deficiency (gene deficiency)
errors in metabolism
Additional relevant MeSH terms:
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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