More than 10 years ago, my husband and I investigated his taking migulstat, the drug used for Gaucher's,in an effort to potentially treat his atypical Parkinson's. He did have a single risk mutation in the GBA gene. We had to be approved by the geneticist at CHildren's Hospital, since that was the protocol for its use in those day, at least in our medical community. The guy turned us down; the rationale was that the drug was not used in gaucher's with neurological symptoms, was unlikely to help, and it cost an egregious amount of $$. There was also a shortage, and since this guy dealt with children, i wondered if his decision was based upon "best use" for the much much younger population. I have no idea. One of the primary side effects was intractable diarrhea. With the approval hurdle and possible diarrhea side effects (which was very much emphasized) , after 4 or 5 months of trying, we dropped this potential therapy. I was initially suspicious that this mutation was involved due to my husband having taken Lipitor for 4 years, during which his symptoms began. Since statins have been shown to trigger lysosomal storage diseases for which individuals possessed only one of the risk alleles for the disease, and Gaucher's is a lysosomal storage disease, I still strongly suspect the drug was primarily etiologic in his form of Parkinson's.
I am now tired. Though not tired enough to have an equanimity about this.
And maybe the drug will not help, though I hope with all my heart that it does. And all the clinicians we consulted thought I was a lunatic each time I mentioned statins and PD. Eventually, I stopped mentioning my theory about the association between the drug and onset of PD.
I know scientific progress is slow. I know clinical trials take an enormous amount of time--my husband's practice was part of more cancer therapy clinical trials than any other institution or practice in our area, so I am well aware of the time involved. I hope this does work for those who can be helped now. I wish someone, anyone would have listened to us back then. I know we tried very hard to obtain the therapy. Small consolation.