The PPMI is a study funded by the Michael J. Fox Foundation which first phase was launched in 2010 with the aim of studying the progression and risk factors for Parkinson's disease (PD). Researchers wanted to identify a biomarker of PD, ie, a substance, process or feature found in our bodies that may be linked to the risk, the onset or progression of the disease, such as blood pressure in the case of heart diseases. The PPMI study offers the possibility of genetic testing and free advice to people who, whether suffering from Parkinson or not, have family members with the disease. This way it is possible to determine if they are good candidates to participate in the PPMI.
The results of the first phase of the study, in which more than 400 patients and 200 controls participated, are currently being analyzed with promising results, like those related to the use of proteins in cerebrospinal fluid as a marker of disease. The Hospital Clínic and the Donostia University Hospital are the only Spanish centers participating in the study, together with other 32 centers worldwide.
In 2013 the study was expanded with two new groups of patients: patients with Genetic Parkinson (those that harbor a number of disease-related mutations), and patients at risk of developing Parkinson. The Unit of Movement Disorders within the neurology Department at Hospital Clinic participates in both arms of the study. Specifically, the genetic branch includes patients with mutations in the LRRK2 gene, the one responsible for most of the genetic Parkinson cases, and their family members carrying the mutation but with no symptoms. In the "prodromal" branch, people with a REM sleep behavior disorder (RBD) and, therefore, at risk of developing the disease, are included.
Hospital Clinic of Barcelona began to recruit these patients earlier this year and has currently 40 people enrolled in the study’s genetic arm (Parkinson patients and family members carrying the mutation, but without symptoms) and 20 people with REM sleep behavior disorder.
For more information about the study you can visit the website: www.michaeljfox.org/ppmi/es