Robert J. Hopkin, MD, clinical geneticist, Cincinnati Children's Hospital Medical Center, provides an overview of the evolving treatment landscape in Fabry disease.
With no treatment options for Fabry disease 20 years ago, there are now 2 treatments approved and several new options being investigated for use, said Robert J. Hopkin, MD, clinical geneticist, Cincinnati Children's Hospital Medical Center.
What are some future considerations regarding management of Fabry disease?
Fabry disease is a changing field constantly, and right now most of the patients who are being treated have very little enzyme production from the copy of the gene that's abnormal. So, in men, they only have 1 copy, and in women, they have 2 copies, but the cells with X inactivation, the cells that have the abnormal copy of the gene, usually don't make any and there's, for reasons we don't understand, not cross correction between the cells.
We need to pay attention to the treatment options. We've gone from no treatment 20 years ago to now we have 2 treatments, and there are probably at least 10 groups studying newer options to improve the outcome for people with Fabry disease.
So, scientifically, it's an exciting time. Probably in the next 5 to 10 years, we will have some treatments that are less of a burden on the patients. And I think that it behooves the medical care providers and the patients with Fabry disease to keep an eye on this evolution so that we can take advantage of what we're learning as the science advances.