Both the National Gaucher Foundation and the Michael J. Fox Foundation for Parkinson’s Research (MJFF) support the PPMI, which is designed to better understand the progression and risk factors for Parkinson’s disease.
PPMI is currently studying the connection between Parkinson’s and mutations in the GBA gene, so identifying and assessing people with a GBA gene mutation is vital, regardless of whether they have Gaucher or Parkinson’s disease.
Over the past decade, studies into the genetics of Parkinson’s have refined the pursuit of disease-modifying treatments, or therapies that slow or stop the progression of the disease.
Studying the genetics of people with GBA mutations could help test these therapies faster and, perhaps, identify new ways to treat the disease. Few people actually develop Parkinson’s directly from a genetic mutation, but research into these mutations could help develop new therapies for people living with Parkinson’s disease.
The findings from this study could also help scientists learn more about Gaucher disease and, eventually, in the development of improved treatments.
Individuals of Eastern European (Ashkenazi) Jewish descent are more likely than the general population to carry a GBA gene mutation. Because of this, PPMI will provide genetic counseling and testing for GBA mutations at no cost to those of Ashkenazi Jewish descent who fit a certain profile.
The Parkinson’s Progression Markers Initiative will be conducted at 33 clinical sites in 11 countries, enrolling nearly 1,000 participants (including patients and their first-degree relatives). The study is also contributing biosamples to the most robust Parkinson’s database and specimen bank ever created, according to researchers at The Michael J. Fox Foundation.
PPMI is an observational study, which means research volunteers do not take any experimental drug or placebo. Instead, they agree to contribute data and samples for up to five years. The $60 million study is paid for by the Michael J. Fox Foundation in partnership with 18 biotech and pharmaceutical companies.
The success of PPMI depends on finding more volunteers with Gaucher or Parkinson’s. Those interested in seeing if they are eligible for free genetic counseling and testing can take this initial survey.