Straight Paths with Crooked Lines: Navigating Enzyme Replacement Therapies for Fabry Disease
Fabry disease is a genetic disorder that causes a lack of an enzyme called alpha-galactosidase A (Gal A) which results in the accumulation of a type of fat called globotriaosylceramide (Gb3 or GL-3) inside cells, causing multisystemic damage. This disease affects males and females and can present in many different ways.
Enzyme Replacement Therapy (ERT)
ERT is a treatment option available for Fabry patients. The goal of ERT is to replace the missing Gal A enzyme. The treatment is administered intravenously, and the patient must receive frequent infusions. While introducing her teenage sons to treatment options available, Susanna’s fabulous, knowledgeable doctor stressed the positive, saying that with early detection and intervention, her kids should live life to the fullest.
It was a happy day for Susanna and her twins when they were finally able to switch to home infusions. However, the journey to finding the right fit for the ERT wasn’t easy. Trial and error was common, and treatment plans could take unexpected twists.
Patient Experiences with ERT
Each individual Fabry patient has their own unique experience with ERT. Susanna’s oldest boys, Michael and Anthony, had their first ERT infusions in October 2019. For about four months, they received biweekly Fabrazyme (agalsidase beta) infusions but then had adverse reactions and desperately wished for home infusions to speed up.
Susanna’s daughter also received Fabrazyme infusions for a short time, but the process was too difficult for her. She refused to consider a port, and her difficult veins made every single infusion dreadful. While ERT was initially an answer to Susanna’s prayers, all of her kids have bailed out of it because of the drawbacks.
New Treatment Options
Research to improve the lives of Fabry patients is ongoing, and we’re thankful that new treatment options are available. Recently, Susanna’s sons participated in a substrate reduction therapy, the PERIDOT Phase 3 clinical trial (NCT05206773). The medication called venglustat is taken orally and is not administered intravenously.
In the randomized, double-blind trial, Michael and Anthony take a daily pill without knowing if it’s a placebo or venglustat. The medication considerably helped them and we’re sure they’ll both be on venglustat. The medication is less burdensome on their daily activities than the ERT treatment, and it’s hoped that it will prove to be a more efficient treatment option.
Disclaimer
Fabry Disease News is strictly a news and information website about the disease, and it does not provide medical adivce. Always seek the advice of your physician or other qualified health provider regarding any questions you may have regarding a medical condition.
The Final Word
Having traveled this road for almost five years, the VanVickle family knows they haven’t arrived at the end of their journey. They travel on with hopes for efficacious remedies while anticipating exciting discoveries. The quest for the right fit has been taxing, but the family remains hopeful that research into Fabry treatments will continue and improve patient outcomes.
The opinions expressed in this column are not those of Fabry Disease News or its parent company, Bionews and are intended to spark a discussion about issues pertaining to Fabry disease.
Reference:
Susanna VanVickle., Straight Paths With Crooked Lines. Fabry Disease News. URL: https://fabrydiseasenews.com/columns/2022/06/20/straight-paths-with-crooked-lines-navigating-enzyme-replacement-therapies-for-fabry-disease/. Published June 20, 2022. Accessed June 22, 2022.
Originally Post From https://fabrydiseasenews.com/columns/my-family-fabry-disease-treatment-isnt-one-size-fits-all/
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