NEW YORK & MIAMI (July 7, 2020) — The Parkinson’s Foundation today announced the preliminary results from the PD GENEration: Mapping the Future of Parkinson’s Disease pilot study. PD GENEration is a first-of-its kind national initiative that offers free genetic testing of clinically relevant Parkinson’s-related genes and free genetic counseling to help participants better understand their results. The preliminary findings from the pilot study, launched in 2019, demonstrate the feasibility to conduct comprehensive genetic testing and genetic counseling for the larger Parkinson’s disease (PD) community, as well as the identification of rare genetic mutation carriers linked to PD.
“These interim findings represent the cornerstone in our success to lay the foundation for precision medicine in Parkinson’s disease,” said James Beck, PhD, Chief Scientific Officer of the Parkinson’s Foundation. “By better understanding the genetic implications for people with PD, scientists will be able to move research and treatments forward towards a cure.”
Recruitment for the study outpaced enrollment projections, and of the 291 people who have been tested so far, 52 tested positive with a genetic mutation that is linked to PD. This amounts to approximately 17 percent of all PD GENEration participants. This percentage is greater than the expected estimate reported in the scientific literature of 5 to 10 percent of people with PD who have a clear genetic connection to the disease. PD GENEration researchers theorize that as more people with PD get genetically tested, the rate of detection may rise further.
Additionally, genetic test results have identified extremely rare genetic mutations linked to PD. Some study participants carry multiple mutations, meaning one person can carry two or more different genetic mutations associated with PD. These findings will significantly contribute to the biological understanding of the disease, helping researchers assess the impact of each mutation and which ones are more influential towards causing the disease.
“This study is critical for the entire PD community,” said John L. Lehr, President and Chief Executive Officer of the Parkinson’s Foundation. “PD GENEration participants can now arm themselves with more information about their specific diagnosis while helping scientists advance PD research. We will continue to expand the PD GENEration study to better serve the PD community while moving research forward.”
The PD GENEration study will nationally expand to more testing sites with the goal of enrolling 15,000 participants in late 2020. The Foundation had anticipated 600 participants during the pilot period, however due to the pandemic, testing was temporarily suspended. In response to the ongoing pandemic, the Parkinson’s Foundation is designing a telemedicine-based approach, where participants will soon be able to enroll in the study using an at-home genetic testing kit and complete virtual genetic counseling in English or Spanish.
PD GENEration is supported in part by Biogen, who discovers, develops and delivers worldwide innovative therapies for people living with serious neurological and neurodegenerative diseases as well as related therapeutic adjacencies. Learn more about PDGENEration at Parkinson.org/PDGENEration.
About the Parkinson’s Foundation
The Parkinson’s Foundation makes life better for people with Parkinson’s disease by improving care and advancing research toward a cure. In everything we do, we build on the energy, experience and passion of our global Parkinson’s community. Since 1957, the Parkinson’s Foundation has invested more than $400 million in Parkinson’s research and clinical care. Connect with us on Parkinson.org, Facebook, Twitter, Instagram or call (800) 4PD-INFO (473-4636).
About Parkinson’s Disease
Affecting an estimated one million Americans and 10 million worldwide, Parkinson’s disease is the second-most common neurodegenerative disease after Alzheimer’s and is the 14th-leading cause of death in the U.S. It is associated with a progressive loss of motor control (e.g., shaking or tremor at rest and lack of facial expression), as well as non-motor symptoms (e.g., depression and anxiety). There is no cure for Parkinson’s and 60,000 new cases are diagnosed each year in the U.S. alone.