Earlier this week, Sanofi Genzyme announced a clinical trial to test a drug designed for people with Parkinson’s disease (PD) who have a specific genetic mutation (GBA).

This study is a major step forward in PD research — it’s the first drug trial in which a person’s genetic status determines eligibility and is testing a potential therapy to slow or stop disease progression.

Read more on The Michael J. Fox Foundation’s blog: First Trial Begins Testing Drug in People with GBA Mutation | Parkinson's Disease

Best, Debi

I agree, Debi. This is a major advance as we move into more individualize drug development and research design. Pharmacogenomics is already being used quite successfully in cancer research and will likely become more useful in PD research. In fact, Nilotinib, the cancer drug we are all following closely, was developed for people with Philadelphia positive CML, a form of leukemia associated with a specific genetic mutation.

However, what I find to be incredibly frustrating is the length of time to complete the study. Five years to conduct a phase 2 trial is just ludicrous. Even if this drug eventually proves to be successful and comes to market, it will likely be 10 years from now, too late to do much good for most of us on this forum. The research system is broken and changes are needed throughout the process to speed up drug research. The whole process is inefficient and the rules and regulations are overwhelming. And, patients deserve some of the blame as the lack of willing volunteers is one of the major contributors to trial delays, which is inexcusable. It's time for all the stakeholders involved, including patients, researchers, drug companies, IRB's, funding organizations, the FDA, etc., to come together to improve and significantly speed up the process.

Gary

I couldn't agree more. I haven't looked at the protocol for this trial so take with a grain of salt, but, the consistent contributors to trial slowness are recruitment pace and measurement challenges that lead to longer observation protocols.

Most trials now assume 1.5 to 2.0 years just to find the trial participants. In a study like this where they are seeking PD patients with GBA mutations, it won't be a surprise that it could take longer. The second contributing factor is measurement challenges. Lack of objective, non-clinical biomarkers means we have to track folks over a period of time longer than otherwise to see if progression is demonstrably slowed.

Patients who participate in studies (interventional ones like this or observational ones like PPMI where we are looking for GBA carriers as well as objective measures of disease progression) can contribute to more informed results coming faster.

Debi

It's my understanding that the Stanford Plasma study is only processing two people per month due to the lack of personnel (read money) to handle the load. They have so many volunteers people are on a waiting list just to be screened. I'm glad they are being so careful, but they project the Phase I to take two years.

My neuro put me on the list today for participating in this clinical trial of GZ/SAR402671 also known as ibiglustat. I have a GBA mutation and have been waiting for this moment. But she said something interesting: as someone with mild disease progression--at this point--I should consider carefully whether I want to risk the side effects. So now I am reading all I can of what those potential side effects might be. Jumping the gun, as usual. But she said, recruitment should officially begin soon, possibly this summer.

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.