Diagnosis of Fabry Disease: Impact of an Educational Brochure Intended for Cardiologist

• Conditions: Cardiomyopathies

• Registration Number: NCT02883205
• Lead Sponsor: University Hospital, Caen

Brief Summary

The cardiac Fabry disease are early, frequent and severe, dominated by the frequency of left ventricular hypertrophy. They are responsible for a high morbidity and mortality, reducing life expectancy of 15 to 20 years for men. Fabry disease and heart attacks are still diagnosed late. This delay in diagnosis is due to the non-specificity of clinical, electrocardiographic and echocardiographic disease, but also by a certain ignorance of this pathology in the medical community. The importance of early diagnosis of Fabry disease and heart disease is well established: enzyme replacement therapy is most effective when instituted early, before the onset of irreversible damage such as fibrosis. With the blotter, we now have a simple and robust screening tool for Fabry disease, achievable consultation. Targeted educational interventions to physicians have shown their effectiveness in improving the screening and diagnosis of rare diseases. We offer a prospective observational type before / after study, which aims to assess the value of an educational brochure for cardiologists to improve the screening and diagnosis of Fabry disease in Normandy.

Detailed Description

Not available

Study Timeline

• Study Start: 2015-01
• Status Verified: 2016-08
• Study First Submitted: 2016-08-25
• Study First Submitted QC: 2016-08-25
• Last Update Submitted: 2016-08-25
• Study First Posted: 2016-08-30
• Last Update Posted: 2016-08-30
• Primary Completion: 2016-12
• Study Completion: 2016-12

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 50

Inclusion Criteria

• Patient with left ventricular hypertrophy of unknown etiology or of sarcomeric MHC pace, followed in Normandy, has given its consent to the search of Fabry disease

Criteria Exclusion:

• Patients under 18 years patient refusal to participate in the study. Lack of consent to the search of Fabry disease

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Number of new cases of Fabry disease diagnosed a year after distribution of educational brochure cardiologists	1 year

Trial Locations

Locations (1)

Fabien; 🇫🇷 Caen, France