Skip to main content
Premium Trial:

Request an Annual Quote

PPMI Study Expands to Include Two Mutations Associated with Parkinson's

NEW YORK (GenomeWeb News) –The Parkinson's Progression Markers Initiative today announced it is expanding to include individuals with two genetic mutations associated with Parkinson's disease.

PPMI, a large-scale biomarker study sponsored by the Michael J. Fox Foundation for Parkinson's Research, will now include as part of its research patients with a mutation of the LRRK2 gene or SNCA gene. Drug development efforts directed at Parkinson's are especially interested in the LRRK2 protein kinase and the alpha-synuclein protein, encoded by the LRRK2 and SNCA genes, respectively, PPMI said.

LRRK2 mutations may heighten activity of the LRRK2 protein kinases, which modifies other proteins implicated in Parkinson's, PPMI said. While alpha-synuclein function is unknown, clumps of the proteins have been found in the cells of all Parkinson's patients and may be a cause of brain dysfunction.

"The functional understanding of LRRK2, the ubiquity of alpha-synuclein aggregation, and the genetic association of both make them foci of therapeutic programs at several pharmaceutical companies," PPMI said. "However, missing from the development pipeline is a key tool to measure a drug's effect on disease; a biomarker would allow researchers to quickly and objectively measure a therapy's ability to slow, halt, or reverse the Parkinson's process."

PPMI will enroll 500 people with the LRRK2 mutation, evenly divided between those with Parkinson's and those without the disease. It also will enroll 100 people with the SNCA mutation, evenly split between those with Parkinson's and those without. The smaller patient size with the SNCA mutation is due to it being rarer, PPMI said.

The participants will be followed for five years.

While genetic mutations currently account for only between 5 and 10 percent of all Parkinson's cases, research into the LRRK2 and SNCA mutations may lead to findings that apply to all Parkinson's patients, PPMI said, adding the PPMI genetic cohort "will expand understanding of the pathogenesis of both genetic and idiopathic Parkinson's diseases."

"Focusing on [Parkinson's] patients and those at risk for [the disease] with genetic mutations will allow us to track the disease process at the earliest stages of illness," Ken Marek, principal investigator of PPMI and president and senior scientist at the Institute for Neurodegenerative Disorders, said in a statement. "This population will teach us about the biology of Parkinson's disease and will accelerate our research toward a [Parkinson's] biomarker and more effective [Parkinson's] therapies."

PPMI is a longitudinal study that launched in 2010. It is collecting standardized clinical, imaging, and biological information with the goal of identifying and validating biomarkers for Parkinson's.