Status:
UNKNOWN
Early Detection and Follow-Up of Patients With Fabry's Disease
Lead Sponsor:
Hospital Clinico Universitario de Santiago
Collaborating Sponsors:
Alvaro Hermida (Co-IP)
Susana Belen Bravo
Conditions:
Fabry's Disease
Eligibility:
All Genders
6-70 years
Brief Summary
This research project will serve on the enhancement of early detection, diagnosis and follow-up of patients with Fabry Disease, through new biomarkers identification. This could have straight clinical...
Detailed Description
The overall purpose of the study is to identify biomarkers for FD in order to improve early detection and diagnosis, define pathological phenotypes and facilitate the monitoring of the disease and its...
Eligibility Criteria
Inclusion
- Age and gender: children and adults male or female between 6 and 70 years old.
- Patients or legal representative will be able to give written informed consent. Parent(s) or guardian(s), for subject under 18 years of age, must be willing and able to provide written, signed informed consent after the nature of the study has been explained and prior to performance of any research-related procedure.
- Patients with diagnosis biochemically confirmed by a decrease in the enzymatic activity of alpha-galactosidase or genetically by the presence of a pathogenic variant in GLA
- Controls: male or female subjects between 6 and 70 years old must be unaffected with Fabry Disease, and considered healthy with no previous history of diabetes mellitus, atherosclerotic vasculopathy or other inflammatory disease.
Exclusion
- Subject with inconclusive genetic diagnosis (i.e. carriers of variants of unknown significance (VUS) or variants with conflicting interpretations of pathogenicity).
- Subject with any medical or psychological disorder that, in the investigator's opinion, may interfere with the patient's ability to give his/her informed consent.
- Subject or legal representative unable to or unwilling to give informed consent.
- Subject participating in a study with an investigational drug within 3 months before consent.
Key Trial Info
Start Date :
January 1 2021
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 1 2022
Estimated Enrollment :
100 Patients enrolled
Trial Details
Trial ID
NCT04847713
Start Date
January 1 2021
End Date
December 1 2022
Last Update
April 19 2021
Active Locations (1)
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1
University Hospital of Santiago de Compostela
Santiago de Compostela, A Coruña, Spain, 15706