379
Participants
Start Date
March 12, 2018
Primary Completion Date
December 24, 2021
Study Completion Date
December 24, 2021
Measurements of the alpha-GAL enzyme activity
Blotting paper blood tests in order to highlight an enzyme deficiency for hemizygous males with DBS kits in order to detect Fabry disease, with genetic confirmation if an abnormality is detected. For women genotyping is mandatory.
CHU de Bicêtre, UNSIV (neurovascular stroke unit), Le Kremlin-Bicêtre
Shire International GmbH
UNKNOWN
Assistance Publique - Hôpitaux de Paris
OTHER