Status:
UNKNOWN
Inflammatory Pathways and Cardiac Growth Factors Associated With Fabry Disease Cardiomyopathy
Lead Sponsor:
Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Collaborating Sponsors:
Sanofi
Conditions:
Fabry
Eligibility:
All Genders
18-70 years
Brief Summary
In Fabry disease (FD), α-galactosidase A deficiency leads to the accumulation of globotriaosylceramide (Lyso-Gb3 and Gb3), triggering a pathologic cascade that causes progressive damage to multiple or...
Detailed Description
α-Gal A catalyzes the lysosomal hydrolysis of globotriaosylceramide (Gb-3) to lactosylceramide and digalactosylceramide (Gal-Gal-Cer) to galactosylceramide (Gal-Cer). The deficiency of this enzyme lea...
Eligibility Criteria
Inclusion
- approved informed consent signed by the patients,
- Confirmed diagnosis of Fabry disease based on deficient α-Gal A enzymatic activity and molecular analysis demonstrating pathogenic variants in the GLA gene
- Male and Female, ages 18-70.
Exclusion
- Any other known genetic condition associated with HCM,
- Evidence of hepatitis B or C infections or other chronic infectious diseases,
- Pregnancy or breastfeeding.
Key Trial Info
Start Date :
December 1 2020
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
August 1 2022
Estimated Enrollment :
50 Patients enrolled
Trial Details
Trial ID
NCT04724083
Start Date
December 1 2020
End Date
August 1 2022
Last Update
January 27 2021
Active Locations (1)
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1
Lysosomal and Rare disorder research and treatment center
Fairfax, Virginia, United States, 22030