Publications by authors named "Dominique-Paul Germain"
Article Synopsis
- Pegunigalsidase alfa is a new enzyme replacement therapy compared to agalsidase beta for treating Fabry disease, evaluated through the BALANCE trial.
- In the study, 77 adult patients were randomly assigned to receive either treatment every two weeks for two years, focusing on eGFR slope differences to measure effectiveness.
- Results showed that pegunigalsidase alfa was not inferior to agalsidase beta in terms of eGFR decline, with fewer adverse events and infusion reactions for the new treatment.
Fabry disease is a hereditary metabolic disease, with an X-linked transmission, that is due to the deficit of alpha-galactosidase A, a lysosomal enzyme. The enzyme deficiency is responsible for an accumulation of neutral glycosphingolipids in the organism with a consequent disease of overload that is responsible for pain, dermatological, renal, cardiac, gastro-intestinal, cochlear and neurological manifestations. Fabry disease starts during childhood but the diagnosis is often made too late.
View Article and Find Full Text PDFFabry disease (FD, OMIM 301500) is an X-linked inherited disorder of metabolism due to mutations in the gene encoding alpha-galactosidase A, a lysosomal enzyme. The enzymatic defect leads to the accumulation of neutral glycosphingolipids throughout the body, particularly within endothelial cells. Resulting narrowing and tortuosity of small blood vessels lead to tissue ischaemia and infarction.
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