Study explores Parkinson’s genetic roots
One million people in the United States (five million worldwide) suffer from Parkinson’s disease (PD), a neurodegenerative disease second only to Alzheimer’s in numbers of people affected.
Motor symptoms of PD include tremor, stiffness and/or slowing of movement, and walking problems. Parkinson’s can also affect neurological and mental health. While they vary from person to person, some common non-motor symptoms include depression, memory loss and loss of smell.
The cause of PD is unknown, but 10 percent of all cases can be traced to genetics. The LRRK2 gene, in particular, is an important known genetic contributor to Parkinson’s disease. A LRRK2 mutation is found among 15 percent of Parkinson’s disease patients of Ashkenazi Jewish ancestry.
While having a mutation in the LRRK2 gene can increase your chances of developing Parkinson’s disease, many people with the mutation will not go on to develop the disease.
The LRRK2 gene is the subject of intense investigation by Parkinson’s disease researchers around the world because of its potential to lead to medical breakthroughs for all people with PD, not just those with a genetic form.
Over the past decade, studies focused on the genetics of Parkinson’s disease have pursued a “disease-modifying treatment” — a therapy that can slow or stop the progression of PD. To date, no disease-modifying treatment has been discovered — it is the single greatest unmet need of Parkinson’s patients today.
For this reason, families of Ashkenazi Jewish heritage that carry a LRRK2 mutation have a vital role to play in this research.
Jewish volunteers needed
One study in particular, the Parkinson’s Progression Markers Initiative (PPMI), is seeking to learn more about how the LRRK2 gene can sometimes lead to Parkinson’s disease.
PPMI is a $60 million dollar landmark clinical study being conducted by the Michael J. Fox Foundation for Parkinson’s Research. It is taking place at 32 clinical sites worldwide, including Baltimore’s Johns Hopkins Medical Institutions.
The goal of PPMI is to identify indicators of PD progression to ultimately enable early and accurate detection, and potentially to help identify new and better treatments for future generations of people with Parkinson’s.
PPMI is seeking volunteers to participate in this study who meet either of the following criteria:
• people with PD who are of Ashkenazi Jewish ancestry, or
• people without PD who are related to someone with PD, and are of Eastern European Ashkenazi Jewish ancestry.
Genetic testing for the purposes of participating in PPMI is available to individuals of Ashkenazi Jewish descent at no charge.
Individuals with blood-related ancestors from Eastern European Jewish communities are needed if they have had PD for any length of time and are of any age, or do not have PD, are over 50 years old, and are related to someone who does have PD.
What the study entails
Participation in PPMI involves:
1. A brief PPMI online survey — Visit www.michaeljfox.org/ppmigenetics to find out if you may qualify for genetic testing in PPMI at no cost.
2. A genetic test — If you are eligible for genetic testing for the purposes of PPMI, you will be contacted by a PPMI representative and sent a “saliva kit” to provide a DNA sample for genetic testing.
3. Counseling and results — All PPMI volunteers who complete genetic testing will receive genetic counseling at no cost to review the results of their genetic test.
4. A visit to a PPMI site — Based on the results of your genetic test, you may be invited to participate in additional tests and evaluations at Johns Hopkins.
Because PPMI is an observational study, participants do not take any experimental drug or placebo.
All costs associated with activities that are part of this study, including the genetic test, are covered by the research study. You do not need to disclose your results to your health insurance company.
For more information or to volunteer, visit www.michaeljfox.org/ppmigenetics or call 1-888-830-6299.