"Liver gene therapy corrects heart symptoms in model of rare enzyme disorder," exclaimed the little tiny gem I found on my Twitter feed yesterday. At first I am thinking, "that's great, another humongous breakthrough that is for some other genetic disorder that they probably will not see for a long while, anyway." But as I clicked through the link, I was quite surprised to find that this new gene therapy was directly applicable to MPS 1 patients.
This article goes on to describe a test procedure placed on 4 kittens, about 3 to 5 months old, with a version of MPS. Each kitten was injected – I assumed directly into the liver – with a new formula set to spark production of the missing enzyme. Results showed that 3 of the 4 kittens, after 6 months of treatment, showed excess production of the enzyme and a reduction of damaging buildup found within the tissues. While I myself have been fortunate enough to have stayed within the margins of safety when it comes to valve damage within my heart, for most people with MPS 1, excessive damage requires valve replacement surgery, and can lead to sudden cardiac arrest if left untreated. Further results from this study showed a "complete resolution" and even restoration of valve damage.
If there a current treatments already available, why is there a need for a study like this, you ask? Because research is showing that current gene therapy methods, such as bone marrow transplant or weekly intravenous enzyme replacement therapy, are not as effective as previously hoped and are far too costly in places like South America. Believe me this was not something I wanted to hear from my doctors after so many years of weekly treatments. I'm still dying, "just not as fast."
Beyond the fact that this could mean that we are one step closer to a "cure", I believe that the implications go further. Given the fact that the kittens were no more than five months old, and if further studies show this to be a viable replacement for current treatments, this may give us precedent to include MPS 1 in genetic screening of in utero mothers.
What do you think about this new treatment, do you believe we can finally start testing for MPS in infants soon?
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