Fabry Disease: Three Cheers for Unrelenting Scientists Fighting for a Cure

I read a report recently from the New England Journal of Medicine about a clinical trial and thought I’d share it with you because it’s about Fabry disease, a genetic disease that affects less than 5,000 Americans.

Fabry disease is a disorder that concerns a deficiency of lysosomal a-galactosidase that can affect various organs in the body. Scientists have found that the oral drug migalastat, has stabilizing properties affecting types of a-galactosidase, which increases the trafficking of enzymes to lysosomes. Migalastat is thought to be a type of “chaperone,” pharmacologically.

Scientists decided to test a small group of patients (67 in total) who’ve been diagnosed with Fabry disease during a double-blind, six-month randomized study testing the effectiveness of migalastat and a placebo. In another phase of the trial, stage ll, doctors in the trial administered migalastat (openly, no placebo was used) for six to 12 months.

Uh… let me see if I can just cut to the chase here, as the clinical data is a bit dry: Migalastat therapy did not meet its endpoint in the trial. Clinicians in the study compared the responses of people who received placebo against those who received migalastat and after six months, there were no clinically significant responses. The clinical trial was funded by the biotech company, Amicus Therapeutics. The study was posted on clinicaltrials.gov.

I wonder how much this clinical trial cost and if there was ANY benefit identified in any of the participants. What some people don’t realize is that with clinical trials, some people DO have a significant response during the time of the trial, while other people may be “late responders,” meaning they respond to the treatment positively, but not during the set time frame of the trial. Because they fall outside of the majority, the study is seen as a failure, it doesn’t meet its end point.

Amicus Therapeutics must have identified a positive clinical response in other trials because it seems they are still diligently working to launch migalastat as a monotherapy and it will be offered for compassionate use.

If you would like to learn more about how clinical trials work, check out this site from Roche, a biotechnology giant, they also happen to own Genentech, a company I believe in and admire the folks who work there.


Alisha Stone

Alisha Stone

Alisha Stone has a BA in psychology and is dedicated to improving the lives of others living with chronic illnesses.

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