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SPEAKER: Ultimately, although the enzyme diagnosis confirms Fabry disease in men, it is now important to do confirmatory genetic testing as well. And this is because of our new oral chaperone therapy. This chaperone therapy only works in patients with certain mutations that are, quote, amenable. Chaperone therapy works to bind to the enzyme and carry it or shuttle it to where it's supposed to be, which is in the lysosome.

And so this new oral chaperone therapy can-- it only works in certain mutations. So therefore, both men and women should have genetic mutation analysis to understand whether or not they're eligible for this new oral chaperone therapy. This therapy called migalastat is taken every other day, and it's been shown to help with the long term progression of the disease with respect to both renal and cardiac function. It is not known yet whether or not it will help with a neurologic aspects, but hopefully future studies and also monitoring over time, we will get those answers soon.

Video

Why is confirmatory, genetic testing mandatory for helping clinicians identify therapeutic agents that are best suited for an individual patient? And to determine whether a mutation is amenable to chaperone therapy?

Why is confirmatory, genetic testing mandatory for helping clinicians identify therapeutic agents that are best suited for an individual patient? And to determine whether a mutation is amenable to chaperone therapy?


Created by

CMEducation Resources IQ&A Fabry Disease Diagnostic Intelligence Zone

Presenter

Heather Lau, MD

Heather Lau, MD

Assistant Professor, Department of Neurology
Associate Director, Division of Neurogenetics
Director, Lysosomal Storage Disease Program
NYU Langone
New York, NY