PD GENEration: Successful Pilot Study Uncovers New Findings

PD GENEration: Mapping the Future of Parkinson’s Disease, which launched last year, is one step closer to understanding the complex connection between Parkinson’s disease (PD) and genetics.

The goal of PD GENEration is to leverage genetics as a powerful tool to help us uncover what is responsible for slowing or stopping the progression of Parkinson’s, which will ultimately improve care and speed the development of new treatments. Study results will advance how we design clinical trials, for instance, testing a new medication based on what type of PD gene a person carries.

As the first national Parkinson’s study to offer bilingual genetic testing in a clinical setting with counseling, the Parkinson’s Foundation flagship study has unearthed exciting preliminary findings.

Higher Detection Rate

Of the 291 people who have been tested as part of the study, 51 tested positive with a genetic mutation that is linked to PD. This amounts to 17% of all PD GENEration participants.

This percentage is higher than the current reported estimates of one to 10% of people with PD who have a genetic connection to the disease — a range that is not representative of the entire PD population since not everyone with Parkinson’s has been genetically tested. PD GENEration researchers theorize that as more people with PD get genetically tested, the rate of detection will most likely rise.

Discovering Rare Mutations

Genetic test results have led researchers to identify extremely rare genetic mutations linked to PD. Some study participants carry multiple mutations, meaning one person can carry two or three different genetic mutations associated with PD.

These multiple genetic mutation carriers have not been extensively studied — thus, we do not know how living with multiple genetic mutations affects PD symptoms or progression. This finding will significantly contribute to the biological understanding of the disease, helping us assess the impact of each mutation and which ones are more influential towards causing the disease, which will lead to better treatments.

Creating an International PD Panel

PD GENEration is working to finalize the development of a global leadership council on genetics and  PD. The international expert PD panel convenes leading clinicians, molecular biologists and geneticists who will develop global consensus to decide which genes and mutations are important for PD and will accelerate research efforts towards better PD treatments.

“This panel welcomes anyone and everyone who is significant in genetics and PD,” said James Beck, PhD, Parkinson’s Foundation Chief Scientific Officer. “It will be a platform for experts from around the world to assess PD GENEration data in real time — data that has already led us to new findings.”

A Community Dedicated to Research

As evidence that the study’s outreach to the PD community goes far beyond the Foundation’s immediate network, 33% of the PD GENEration participants came from outside of the Parkinson’s Foundation Centers of Excellence network. Participants traveled from 21 states to six pilot sites.

“This community is determined and resilient to do what it takes to contribute to Parkinson’s research, a great indication that we will be able to successfully complete our goal of enrolling 15,000 participants who want to know if they have a genetic link to this disease,” Dr. Beck said.

The Next Phase

The PD GENEration study will expand to more testing sites. In response to the current climate, PD GENEration leaders are designing a telemedicine-based approach, where participants can submit their test using an at-home kit and complete virtual, bilingual genetic counseling.

PD GENEration recently partnered with Biogen to accelerate the study. Looking ahead, once PD GENEration is complete, the partnership will help drug development companies, like Biogen and others, recruit for clinical trials faster. This will help speed up the development of better PD medications and recruitment for PD clinical trials.

Learn more about PD GENEration and sign up for email updates at Parkinson.org/PDGENEration.