University Hospitals Selected as a Site for the Black and African American Connections to Parkinson’s Disease Study

Innovations in Digestive Health | Winter 2024

University Hospitals is one of four health systems recently chosen to participate in the Black and African American Connections to Parkinson’s Disease (BLAAC PD) Study. Initiated in 2021 with eight original sites, the study aims to increase understanding of the genetic architecture of Parkinson’s disease (PD) within Black and African American populations and build a base for greater understanding of findings across ancestries. 

Other recently selected locations include the Medical University of South Carolina in Charleston, SC, UT Health in Houston and Washington University in St. Louis.

Although no definitive cause of PD has been identified, researchers believe aging, as well as genetic and/or environmental factors, plays a role. Black and African Americans face unique challenges related to PD. They are diagnosed at half the rate of Caucasian and white patients and lag behind other racial groups, resulting in fewer opportunities to seek crucial supportive treatment in the early stages of the disease. By the time of diagnosis, many Black and African American patients face may face more motor impairment, faster disease progression, less access to Parkinson’s medication treatment and even higher mortality rates.

Camila Kilbane, MD

“Most previous Parkinson’s research has focused on a large predominance of Caucasian and white populations, with men overrepresented versus women,” says Camilla Kilbane, MD, Director of the Parkinson’s and Movement Disorder Center, Medical Director of the Deep Brain Stimulation Program, and Program Director of Movement Disorders within the University Hospitals Neurological Institute.

“Because of potential bias in data collection, the traditional thinking was that Parkinson's disease risk was lower in Blacks and African Americans; however this may not be true. The reality is that this population is too often underdiagnosed or diagnosed further into the disease progression.” 

As a BLAAC PD site, University Hospitals joins the Global Parkinson’s Genetics Program (GP2). Funded by Aligning Science Across Parkinson’s (ASAP), GP2 is the largest international research community dedicated to accelerating the development and deployment of therapeutic strategies for PD. To better understand PD in underrepresented populations, GP2 has set out to genotype over 150,000 individuals throughout the world. BLAAC PD was launched by GP2, but it is a collaborative effort and receives its funding from the Michael J. Fox Foundation. 

Recently, GP2 efforts contributed to the identification of a novel genetic variant and its classification as a significant PD risk factor in African and African ancestry populations. “GBA1 is one of the more common genetic mutations we screen for in Parkinson’s,” says Dr. Kilbane. However, GP2 researchers uncovered a completely novel GBA1 mutation that was substantially increased in African populations. A person with two copies of this newly discovered variant is roughly 3.5 times more likely to develop PD than those without copies.

“It is important to note that the majority of people tested for genetic markers of Parkinson’s receive negative results,” says Dr. Kilbane. “However, the more we learn about genetic anomalies that may have downstream effects contributing to Parkinson’s, the more we will understand the mechanisms of the disease and accelerate investigations into treatment modalities.”

Dr. Kilbane adds treatments for Parkinson’s have been limited to addressing the disease’s burdensome symptoms that hamper quality of life. However, two new drug trials have recently been launched to target disease mechanisms related to two of the most common genetic markers for the disease.

“Clinical trials are under way for the GBA1 and the LRRK2 mutations,” she says. “Parkinson’s disease may have different causes that require different treatment options. Understanding an individual’s genetic risk factors will hopefully lead to more personalized medicine and the promise of novel treatment options.”

The BLAAC PD Study has set an enrollment target of 2,000 individuals. Funding awarded to the 12 national research sites is supporting study costs, including patient visits, supplies, staffing, and monies for community engagement and incentives. 

Recruitment at University Hospitals began in the spring. Black and African American individuals with PD will be matched 1:1 to a control. To enroll in the study, volunteers must be older than 20 years old, consent to a single-visit health assessment, complete a questionnaire and provide a biospecimen sample. Individuals will receive a $50 gift card as compensation for their participation.

Historically, there have been well-founded concerns within Black and African American populations about medical research.

“Hopefully, by spreading the word about the BLAAC PD study, we will increase our engagement, build trust within Northeast Ohio communities and provide needed Parkinson’s care to our local neighborhoods,” says Dr. Kilbane. “We are excited that Cleveland is a part of this research opportunity.”

For more information about the BLAAC PD Study, contact Study Coordinator Ashley Hawkins at Ashley.Hawkins@UHhospitals.org.

Contributing Expert:
Camilla Kilbane, MD
Director, Parkinson’s and Movement Disorder Center
Medical Director, Deep Brain Stimulation Program
Program Director, Movement Disorders
University Hospitals Neurological Institute 
University Hospitals Cleveland Medical Center 

Associate Professor
Case Western Reserve University School of Medicine