Researchers at the University of Alabama at Birmingham 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.
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 investigators 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 David Standaert, M.D., Ph.D., chair of the Department of Neurology and primary investigator at UAB. “Although known genetic mutations 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 more rare, 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, call 877-836-8108 or e-mail email@example.com. PPMI is particularly interested in testing individuals of Ashkenazi (Eastern European) Jewish descent or their relatives with Parkinson’s. 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 more quickly 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, Ph.D., CEO of The Michael J. Fox Foundation. “The exceptional investigators at sites around the world, such as at UAB, have created the infrastructure that allows us to make such strides, by working together.”
Hundreds of UAB physicians named to prestigious 2015-16 Best Doctors in America listHundreds of the top physicians in the nation practice at the UAB Health System, according to the latest edition of the Best Doctors in America®.posted yesterday 434 viewsFerniany named to top health system CEO list by Becker’s ReviewUAB Health System CEO William Ferniany, Ph.D., has been recognized on the Becker’s Hospital Review “130 Nonprofit Hospital and Health System CEOs To Know.”posted 16 days ago 1011 viewsArts in Medicine to host lunch and learn Nov. 9The UAB Department of Music Therapy and UAB Institute for Arts in Medicine will host a lunch and learn Nov. 9.posted a while back 1142 viewsFrankly Speaking About Lung CancerThe Nov. 10 workshop will provide information and resources for lung cancer patients.posted a while back 1386 viewsCF fertility rates research ‘very personal’ for School of Nursing’s LadoresA UAB professor and student are examining how a new drug may improve life expectancies for CF patients and unplanned pregnancies among women.posted a while back 1710 viewsUAB Dentistry Cares Community Day provides care for more than 500 underserved and homelessUAB Dentistry students, faculty, staff and alumni, along with community partners, provided needed dental services at its third annual event.posted a while back 1399 viewsUAB Cancer Center named to list of Great Oncology ProgramsThe UAB Comprehensive Cancer Center ranked as one of 100 Hospitals and Health Systems with great oncology programs in America.posted a while back 2926 viewsSolving the mysteries of fibromyalgia could help patients break freeThe searing pain and debilitating fatigue of fibromyalgia and related conditions turn life into a daily struggle for millions of Americans. UAB’s Jarred Younger hopes to bring them relief through his groundbreaking research into potential causes,including brain inflammation, and exciting new treatments.posted a while back 1356 viewsUAB recognized as one of the most connected hospitalsUAB has been recognized by U.S. News & World Report as the only hospital in Alabama among the most connected for 2015-16.posted a while back 1417 viewsDine for a CureNew fundraising effort, Dine for a Cure, kicks off Oct. 20 at Slice.posted a while back 1570 viewsUAB continues to put Safety Task Force recommendations into actionImplementation of safety measures continues following UAB Safety Task Force assessment and action plan.posted a while back 2295 viewsWilliams earns grant to study perceptions of discrimination in health careJessica Williams, Ph.D., assistant professor in the UAB Department of Health Services Administration, received a $100,000 New Connections grant from the Robert Wood Johnson Foundation to examine perceptions of discrimination in health care settings.posted a while back 1241 viewsLow-carb diet could help adults with spinal cord injuryA new study from UAB could provide the first known data about the impact of dietary patterns on dietary adherence and cardiometabolic risk factors in adults with spinal cord injury.posted a while back 2291 viewsUAB study finds possible frontline therapy for older patients with Hodgkin LymphomaUAB researcher reports that brentuximab vedotin may be effective therapy for older patients with Hodgkin Lymphoma who cannot tolerate standard therapy.posted a while back 2564 viewsUAB Medicine-Leeds clinic to open Oct. 21The new internal medicine and pediatric clinic will feature an outpatient diagnostic center with a cutting-edge imaging facility and full ambulatory lab services, all on-site.posted a while back 3504 viewsAll invited to free, weekly Thursday Arts Experiences at UAB HospitalNew performances have just been announced for November and December in the UAB Hospital North Pavilion.posted a while back 3125 viewsUAB to lead $9.4 million trial to improve blood pressure in the Black BeltUAB is leading a team of researchers in a trial to combat blood pressure risk factors.posted a while back 3030 viewsUAB to host critical care symposium Oct. 1Register today for UAB’s annual Critical Care Symposium.posted a while back 1743 viewsUAB Medicine Urgent Care announces facility expansionUAB Medicine Urgent Care has announced an expansion to its facility located at 125 20th St. South, Suite 103.posted a while back 1870 viewsNewsweek Top Cancer Doctors 2015 includes UAB cancer specialistsMany UAB physicians from a variety of specialties appear on the prestigious Newsweek Top Cancer Doctors 2015 list.posted a while back 9477 views