Impact of Enzyme Replacement Therapy on Fabry Disease in Women
Author Information
Author(s): Lenders Malte, Nowak Albina, Cybulla Markus, Kaufeld Jessica, Köhn Anja Friederike, Muschol Nicole Maria, Kurschat Christine
Primary Institution: University Hospital Muenster, Germany
Hypothesis
The study aims to investigate the implementation of European Fabry guidelines and analyze the impact of enzyme replacement therapy in female patients with Fabry disease.
Conclusion
The study found that severely affected females treated with enzyme replacement therapy and less severely affected untreated females showed a broadly stable disease course over five years.
Supporting Evidence
- 90% of ERT-treated females had at least one organ manifestation justifying treatment.
- Untreated females showed a less severe disease load.
- All groups had stable cardiac status over time.
- Plasma lyso-Gb3 levels decreased in newly ERT-treated females.
Takeaway
This study looked at women with Fabry disease and found that those who received treatment had stable health over time, while those who didn't were less affected.
Methodology
The study analyzed data from 159 female Fabry disease patients across six centers, comparing untreated, newly treated, and long-term treated groups over three visits.
Potential Biases
Potential bias due to the exclusion of patients receiving migalastat and lack of quality of life data.
Limitations
The study was limited by the COVID-19 pandemic affecting patient recruitment and the retrospective design limiting available data.
Participant Demographics
All participants were genetically confirmed female patients with Fabry disease, aged 18 and older.
Statistical Information
P-Value
p=0.0002
Confidence Interval
[-4.44 to 4.08]
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website