Publications by authors named "M D Holida"
Article Synopsis
- The study aimed to examine the progression of Fabry disease in young children, focusing on those under 5 years old and their genetic variations.
- Data was collected over five years from 40 participants (mostly male) to track their symptoms, revealing that children with classic pathogenic variants (CFD) commonly experienced gastrointestinal issues and heat intolerance starting around 23.4 months of age.
- The findings emphasize the early symptoms and their consistent onset in children with CFD, while those with nonclassic variants displayed more variable symptoms.
Article Synopsis
- Pegunigalsidase alfa is a new enzyme replacement therapy for Fabry disease, showing a longer half-life and administered every 4 weeks instead of the typical 2-week schedule.
- The BRIGHT study involved 30 adult patients who switched from another ERT to pegunigalsidase alfa, revealing good safety results with mostly mild side effects and no new anti-drug antibodies.
- Although the treatment showed acceptable tolerance, more research is needed due to the small sample size, but it suggests that this 4-week regimen could be a viable new option for managing Fabry disease.
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.
Article Synopsis
- Fabry disease is a rare condition caused by mutations in the GLA gene, leading to a deficiency of the enzyme α-galactosidase, and this study evaluates the long-term safety and effectiveness of a new treatment called pegunigalsidase alfa.
- *The study involved 15 adults with Fabry disease who received bi-weekly infusions of this enzyme replacement therapy for up to 60 months, with most adverse events being mild to moderate.
- *Results showed a significant, continuous decrease in a specific plasma biomarker and stability in kidney and heart function, indicating the treatment has favorable long-term effects.*
While females can suffer serious complications of Fabry disease, most studies are limited to males to avoid confounding by mosaicism. Here, we developed a novel unbiased method for quantifying globotriaosylceramide (GL3) inclusion volume in affected podocytes (F+) in females with Fabry disease independent of mosaicism leading to important new observations. All podocytes in male patients with Fabry are F+.
View Article and Find Full Text PDF