Robert J. Hopkin, MD, clinical geneticist, Cincinnati Children's Hospital Medical Center, addresses major unmet needs in Fabry disease, ranging from uncontrolled pain to irreversible damage prior to treatment initiation.
With no current treatments available to reverse the damage caused by Fabry disease, unmet needs in patients also include management of pain, gastrointestinal, and sleepiness issues, said Robert J. Hopkin, MD, clinical geneticist, Cincinnati Children's Hospital Medical Center.
What are some unmet challenges regarding management of Fabry disease?
The treatments that we have right now are well studied and they slow down the progression of kidney disease and heart disease reasonably well, and that's well documented. But the treatments don't appear to adequately control the pain, which is a major quality-of-life issue.
They also don't reverse the damage that's already been done. So, the current average age for starting therapy for Fabry disease is about age 30. By that age, people with the classic severe form of Fabry disease will already have some irreversible damage to kidneys and/or heart in many cases. We need to get earlier recognition.
So, pain management, early recognition. We need earlier and more effective treatment for the lymphedema, earlier more effective treatment for the GI [gastrointestinal] symptoms. Hearing loss is something that is not well studied, but does impact a significant number of patients. And then the fatigue and sleepiness issues.
All of those are essentially unaddressed at this point—other than the people who are very interested in Fabry disease, treating patients on an individual basis as best they can for those problems.