The Parkinsonís Progression Markers Initiative (PPMI), a large-scale biomarker study sponsored by The Michael J. Fox Foundation (MJFF) is expanding to study individuals with a genetic mutation of the GBA (glucosidase beta acid) gene. Participants will include people with or at increased risk to develop Parkinsonís disease (PD).
Mutations in the GBA gene can cause Gaucher disease, a disorder where fatty substance accumulate in body cells. First linked to Parkinsonís in 2008, these genetic mutations lower levels of an enzyme that helps break down proteins and lipids. In Parkinsonís disease (PD) lower levels of this enzyme are associated with aggregation of the protein alpha-synuclein, the hallmark pathology of PD.
Researchers hope that a greater understanding of the biology and clinical features of the participants will lead to therapies benefitting all Parkinsonís patients and ultimately provide strategies to prevent disease onset.
PPMI will enroll 125 people with the GBA mutation and who have Parkinsonís and 125 people with the mutation who do not have Parkinsonís. These participants will be followed for five years. By collecting data and samples over time from people who have not been diagnosed with the disease but who carry an associated genetic mutation, researchers can test for characteristics that may denote greater risk of disease onset or, conversely, protection from symptoms.
Launched in 2010, PPMI is a†longitudinal clinical study that collects standardized clinical, imaging and biologic data. Now taking place at 33 clinical sites around the world, the study completed initial enrollment of 423 recently diagnosed Parkinsonís patients and 196 controls in April 2013. Since then, the study has expanded to include cohorts of individuals at increased risk of developing Parkinsonís disease. Risk factors under study include genetics, REM sleep behavior disorder and smell loss. (Enrollment of the smell loss cohort was completed earlier this year.)
Learn more about the Foundationís work to find a biomarker.