Status:
UNKNOWN
Myocardial Affectation in Patients With Fabry Disease Without Phenotypic Manifestation. Diagnostic Value of Biomarkers
Lead Sponsor:
Francisco Marín Ortuño
Collaborating Sponsors:
Hospital Universitario San Juan de Alicante
Hospital General Universitario Elche
Conditions:
Fabry Disease, Cardiac Variant
Right Ventricular Hypertrophy
Eligibility:
All Genders
Brief Summary
The cardiac variant of the Fabry disease is a rare cardiomyopathy affecting 1/50000 individuals in general population. It is generally diagnosed in advanced stages of the disease, because it presents ...
Detailed Description
Fabry disease is an X-linked recessive disease, affecting lysosomal storage with a variable phenotype characterized by the accumulation of glycosphingolipids in several tissues. It has been described ...
Eligibility Criteria
Inclusion
- Inclusion Criteria:
- 20 families with Fabry diagnosed probands, including up to 80 relatives.
Exclusion
Key Trial Info
Start Date :
October 1 2011
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
April 1 2013
Estimated Enrollment :
120 Patients enrolled
Trial Details
Trial ID
NCT01442350
Start Date
October 1 2011
End Date
April 1 2013
Last Update
September 28 2011
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