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.”
UAB’s ROSA robot guides new epilepsy procedureA new surgical robot helps UAB physicians add a new technique for preparing for epilepsy surgery.posted 3 days ago 576 views
In cancer's aftermath, helping survivors confront "late effects"Smita Bhatia, M.D., M.P.H., director of UAB's new Institute for Cancer Outcomes and Survivorship, explains how cancer treatments can lead to chronic health conditions in later life — and how "survivorship clinics" will help.posted 8 days ago 943 viewsOn the front lines of the heroin epidemic, offering a lifesaving treatmentNaloxone kits have prevented more than 10,000 deaths from opioid overdose since local distribution programs began in 1996. Now, as deaths from opioid overdose reach an all-time high in the United States, a crowdfunded project from UAB researchers aims to put naloxone in the hands of those at highest risk.posted 8 days ago 604 viewsCreative approaches to healing at UAB’s Institute for Arts in Medicine inspire patients and clinicians
About half of American hospitals have some form of arts programming, usually art or music therapy. Now a growing number of medical centers — UAB Hospital is the first in Alabama — are implementing the more comprehensive AIM model.UAB re-verified as a Level I Trauma Center through 2018The American College of Surgeons has again verified UAB as a Level I Trauma Center, a designation held by UAB since 1999.posted 23 days ago 3795 viewsA lifetime of insights gained from a few hours without sight
UAB ophthalmologists have dinner in the dark to gain better understanding of what it means to be vision-impaired.Two major national clinical trials available for lung cancer patients at UABUAB offers two national clinical trials with customized treatment for lung cancer patients.posted a while back 2741 viewsUAB dermatologists’ drive to eliminate psoriasis is personalBoni Elewski, M.D., and Wendy Cantrell, DNP, pursue research and therapies that bring new drugs to market and change patients’ lives.posted a while back 1074 views$3.5 million UAB grant to find biomarkers that tell likelihood of suicide
Neuron-derived microRNAs obtained from blood samples may correlate with treatment response and could aid the search for new therapeutics.Faye-Petersen named to leadership positions in pediatric pathologyUAB pathologist also leads a trainee in producing software to improve the quality and efficiency of perinatal autopsies.posted a while back 883 viewsUAB named among top for cancer care in the United StatesUAB receives 2015 Women’s Choice Award for being named one of America’s best hospitals for cancer care.posted a while back 2230 viewsPreliminary UAB study shows dramatic trend of cost savings in lay navigation program for cancer patientsUAB presents preliminary data indicating a significant savings in cancer costs by using a novel lay navigation program.posted a while back 1910 viewsUAB emphysema patient has good result from experimental one-way valve procedureAn experimental lung-volume-reduction procedure using one-way valves shows promise for a UAB patient.posted a while back 1015 viewsUAB surgeon assesses risk of coronary stent on later, noncardiac surgeryIncreased risk of major adverse cardiac events after the later surgery persists for one year.posted a while back 1200 viewsUAB opens the third clinic in the world for patients with transverse myelitisUAB has established the third multidisciplinary comprehensive clinic in the world for transverse myelitis, a rare spinal cord disease.posted a while back 5292 viewsUAB awarded Comprehensive Stroke Center designationUAB has received prestigious designation as a Comprehensive Stroke Center from the Joint Commission and American Heart Association.posted a while back 4351 viewsReasons why survival rates of extremely premature infants differ by hospitalBetween-hospital variations in active treatment explain much of the difference seen in infants born at 22 to 24 weeks of gestation.posted a while back 3746 viewsUAB named to list of 100 Great HospitalsBecker’s Hospital Review has named UAB Hospital as one of the 100 Great Hospitals in America.posted a while back 2202 viewsUAB baseball team helps Mississippi family cope with loss of father, husbandStudy points to possible new treatment for HER2+ breast cancerElevated PARP1 polymerase in HER2+ breast cancer may confer susceptibility to PARP inhibitor drugs.posted a while back 2517 views