Fabry Disease, FD
Conditions
Interventions
Classification of gene mutations in Fabre disease:NA
Sponsors
West China Hospital of Sichuan University
Eligibility
Sex/Gender
All
Age
1 Years to 99 Years
Inclusion criteria
Inclusion criteria: 1. Complete genetic testing and a- Gal A activity test meets the diagnostic criteria for FD, i.e. male a- Gal A activity is reduced and genetic testing shows a pathogenic mutation, while female genetic testing shows a pathogenic mutation a- Gal A activity decreases or substrate concentration increases. 2. Complete baseline cardiac magnetic resonance imaging examination 3. Sign informed consent form
Exclusion criteria
Exclusion criteria: Patients unwilling to provide informed consent or participate in cardiac magnetic resonance imaging follow-up
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Clinical data ;Cardiac magnetic resonance imaging data ; | — |
Countries
China
Contacts
Public ContactChen Yucheng
West China Hospital of Sichuan University
Outcome results
None listed