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Trial details imported from ClinicalTrials.gov
For full trial details, please see the original record at
https://clinicaltrials.gov/ct2/show/NCT00196742
Registration number
NCT00196742
Ethics application status
Date submitted
13/09/2005
Date registered
20/09/2005
Date last updated
17/04/2024
Titles & IDs
Public title
Fabry Disease Registry & Pregnancy Sub-registry
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Scientific title
Fabry Disease Registry Protocol
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Secondary ID [1]
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0
AGAL19211
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Secondary ID [2]
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DIREGC07006
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Universal Trial Number (UTN)
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Trial acronym
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Linked study record
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Health condition
Health condition(s) or problem(s) studied:
Fabry Disease
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0
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Condition category
Condition code
Human Genetics and Inherited Disorders
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0
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0
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Other human genetics and inherited disorders
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Metabolic and Endocrine
0
0
0
0
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Metabolic disorders
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Metabolic and Endocrine
0
0
0
0
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Other metabolic disorders
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Intervention/exposure
Study type
Observational [Patient Registry]
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Patient registry
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Target follow-up duration
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Target follow-up type
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Description of intervention(s) / exposure
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.
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Comparator / control treatment
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Control group
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Outcomes
Primary outcome [1]
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Fabry Registry: To evaluate the long-term safety and effectiveness of Fabrazyme®
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Assessment method [1]
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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.
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Timepoint [1]
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33 years
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Primary outcome [2]
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Fabry Pregnancy Sub-registry: pregnancy outcomes, including complications and infant growth
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Assessment method [2]
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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.
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Timepoint [2]
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33 years
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Secondary outcome [1]
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Fabry Register: Monitor factors associated with the efficacy of Fabry disease treatments
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Assessment method [1]
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A secondary endpoint is to monitor those factors associated with the efficacy of Fabry disease treatments.
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Timepoint [1]
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33 years
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Eligibility
Key inclusion 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 aGAL (alpha-galactosidase) enzyme activity and/or mutation(s) in the gene
coding for aGAL.
- 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.
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Minimum age
No limit
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Maximum age
No limit
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Sex
Both males and females
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Can healthy volunteers participate?
No
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Key exclusion criteria
Exclusion Criteria Fabry Registry: There are no exclusion criteria. Fabry Pregnancy
Sub-registry: There are no exclusion criteria.
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Study design
Purpose
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Duration
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Selection
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Timing
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Statistical methods / analysis
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Recruitment
Recruitment status
Recruiting
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Data analysis
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Reason for early stopping/withdrawal
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Other reasons
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Date of first participant enrolment
Anticipated
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Actual
31/07/2001
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Date of last participant enrolment
Anticipated
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Actual
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Date of last data collection
Anticipated
31/01/2034
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Actual
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Sample size
Target
9000
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Accrual to date
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Final
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Recruitment in Australia
Recruitment state(s)
NSW,QLD,SA,VIC,WA
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Recruitment hospital [1]
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Investigational Site Number : 036013 - Westmead
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Recruitment hospital [2]
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Investigational Site Number : 151069 - Westmead
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Investigational Site Number : 153063 - Herston
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Investigational Site Number : 151002 - Adelaide
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Investigational Site Number : 153040 - Parkville
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Investigational Site Number : 153090 - Perth
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2145 - Westmead
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4006 - Herston
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5000 - Adelaide
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3050 - Parkville
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6000 - Perth
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Salford
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Vietnam
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Hanoi
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Funding & Sponsors
Primary sponsor type
Commercial sector/Industry
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Name
Genzyme, a Sanofi Company
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Address
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Ethics approval
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Summary
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.
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Trial website
https://clinicaltrials.gov/ct2/show/NCT00196742
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Trial related presentations / publications
Germain DP, Brand E, Burlina A, Cecchi F, Garman SC, Kempf J, Laney DA, Linhart A, Marodi L, Nicholls K, Ortiz A, Pieruzzi F, Shankar SP, Waldek S, Wanner C, Jovanovic A. Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study. Mol Genet Genomic Med. 2018 Apr 12;6(4):492-503. doi: 10.1002/mgg3.389. Online ahead of print.
Wilcox WR, Feldt-Rasmussen U, Martins AM, Ortiz A, Lemay RM, Jovanovic A, Germain DP, Varas C, Nicholls K, Weidemann F, Hopkin RJ. Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry. JIMD Rep. 2018;38:45-51. doi: 10.1007/8904_2017_28. Epub 2017 May 17.
Hopkin RJ, Cabrera G, Charrow J, Lemay R, Martins AM, Mauer M, Ortiz A, Patel MR, Sims K, Waldek S, Warnock DG, Wilcox WR. Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry. Mol Genet Metab. 2016 Sep;119(1-2):151-9. doi: 10.1016/j.ymgme.2016.06.007. Epub 2016 Jun 13.
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Public notes
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Contacts
Principal investigator
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Study Director
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Address
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Genzyme, a Sanofi Company
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Contact person for public queries
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Trial Transparency
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Phone
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800-633-1610
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[email protected]
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Contact person for scientific queries
Summary Results
For IPD and results data, please see
https://clinicaltrials.gov/ct2/show/NCT00196742
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