Boston Medical Center/Boston University School of Medicine investigating genetics of Parkinson’s disease
(617) – 638-8480
Cathi A. Thomas, RN, MS
Raymond C. James, RN, BS
March 20, 2014 — Researchers at Boston Medical Center (BMC) along with Boston University School of Medicine (BUSM) will study individuals with genetic mutations associated with Parkinson’s disease (PD) 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.
PPMI will enroll participants with a known mutation of the LRRK or SNCA [alpha-synuclein] gene. Previous research has shown these mutations are associated with Parkinson’s disease, and account for a greater number of PD 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 researchers glean 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 PD biomarker and more effective treatments,” said Samuel Frank, MD, principal investigator at BMC/BUSM. “Although known genetic mutations currently account for only five to 10 percent 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 enroll 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 PD. These participants will be followed for five years.
Interested individuals can visit www.michaeljfox.org/ppmi/genetics or call 617-638-7745. PPMI is particularly interested in testing individuals of Ashkenazi (Eastern European) Jewish descent with Parkinson’s or with a relative with the disease. The LRRK2 mutation also accounts for more PD cases in people of North African Arab Berber or Basque descent. Study sites will recruit people with the rarer SNCA mutation through familial connections.
Biomarkers — such as cholesterol level for heart disease — are substances, processes or characteristics of the body that communicate disease risk, onset and/or progression. They aid in diagnosis and disease management and help researchers stratify for clinical trials and test new drugs quicker by measuring biological changes rather than waiting for clinical improvement. There are no validated biomarkers for Parkinson’s disease, a reality researchers are hoping to change with PPMI.
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,” said Todd Sherer, PhD, CEO of The Michael J. Fox Foundation. “The exceptional investigators at sites around the world, such as at BMC/BUSM, have created the infrastructure that allows us to make such strides, by working together.”
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About Boston Medical Center / Boston University Medical Campus
Boston University Medical Campus (BUMC), located in the historic South End of Boston, comprises the Boston University School of Medicine, the School of Public Health, the Henry M. Goldman School of Dental Medicine, and the Division of Graduate Medical Sciences of the School of Medicine. Boston Medical Center is the primary teaching affiliate of the School of Medicine. Renowned for the quality of teaching and research, and for service to the community, these schools provide education and training in the most current thinking and techniques in their fields, with a particular focus on serving disadvantaged, underserved, and indigent populations
About The Michael J. Fox Foundation for Parkinson’s Research
As the world’s largest private funder of Parkinson’s research, The Michael J. Fox Foundation is dedicated to accelerating a cure for Parkinson’s disease and improved therapies for those living with the condition today. The Foundation pursues its goals through an aggressively funded, highly targeted research program coupled with active global engagement of scientists, Parkinson’s patients, business leaders, clinical trial participants, donors and volunteers. In addition to funding more than $400 million in research to date, the Foundation has fundamentally altered the trajectory of progress toward a cure. Operating at the hub of worldwide Parkinson’s research, the Foundation forges groundbreaking collaborations with industry leaders, academic scientists and government research funders; increases the flow of participants into Parkinson’s disease clinical trials with its online tool, Fox Trial Finder; promotes Parkinson’s awareness through high-profile advocacy, events and outreach; and coordinates the grassroots involvement of thousands of Team Fox members around the world.