Imperial College London initiates study to investigate genetics of Parkinson’s disease


Researchers at the Imperial College London will study individuals with genetic mutations associated with Parkinson’s disease as one of 32 clinical sites of the Parkinson’s Progression Markers Initiative (PPMI), a large-scale biomarker study sponsored by The Michael J Fox Foundation for Parkinson’s Research. The study is seeking volunteers of Ashkenazi Jewish background to participate.

Overall, PPMI will enrol participants with a known mutation of the LRRK or SNCA [alpha-synuclein] gene. At Imperial College London, the researchers will look specifically at the LRRK2 mutation. Previous research has shown that both mutations are associated with Parkinson’s disease, and account for a greater number of Parkinson’s disease cases among certain ethnic populations and families, notably the LRRK2 mutation in those of Ashkenazi (Eastern European) Jewish, Basque and North African Berber descent. The insight gleaned from these research volunteers will fortify current efforts to develop a disease-modifying therapy, something that currently eludes the field.


“Studying individuals with genetic mutations associated with Parkinson’s can accelerate our research toward a Parkinson’s disease biomarker and more effective treatments,” says Nicola Pavese, the co-principal investigator of the PPMI study at Imperial College London. “Although known genetic mutations currently account for only 5 to 10% of all Parkinson’s cases, this population can provide invaluable information about the intricacies of the disease for all patients.”


PPMI is studying clinical and imaging data and biological samples of people with a genetic mutation to identify biomarkers and speed clinical trials. PPMI will enrol 250 people with the LRRK2 mutation and Parkinson’s and 250 people with the mutation but without Parkinson’s. Since the SNCA mutation is rarer, the study is recruiting 50 people with Parkinson’s and the mutation and 50 people with the SNCA mutation but without Parkinson’s disease. These participants will be followed for five years.


Launched in 2010, PPMI is a longitudinal clinical study that collects standardized clinical, imaging and biologic data. Now taking place at 32 clinical sites around the world, the study completed initial enrollment of 423 recently diagnosed Parkinson’s patients and 196 controls in April 2013. That month PPMI began recruiting individuals with the known Parkinson’s risk factors of smell loss and REM sleep behavior disorder.


“In the fourth year of PPMI, it is evident that a large-scale biomarker study is not only possible in Parkinson’s disease, but is already yielding scientific insights that could help transform the field of Parkinson’s research,” says Todd Sherer, chief executive officer of The Michael J Fox Foundation. “The exceptional investigators at sites around the world, such as at Imperial College London, have created the infrastructure that allows us to make such strides, by working together.”