Parkinson’s disease (PD) is a degenerative disorder of the central nervous system. The motor symptoms of Parkinson’s result from the death of dopamine-generating cells in the substantia nigra, a region of the midbrain. The cause of this degeneration is unknown.
People with PD experience rigidity, shaking, slowness of movement and difficulty walking. In late stages of the disease, people with PD can demonstrate cognitive and behavioural problems.
Researchers have found that the pathology of PD is characterized by the accumulation of a protein called alpha-synuclein, forming clumps called Lewy bodies. The distribution of Lewy bodies is unpredictable and varies from person to person, yet they are found in all people with PD. Today, more than five million people worldwide have Parkinson’s.
Recently researchers have made progress in addressing the role genetics may play in PD. To date, only five percent of Parkinson’s cases have been found to have a genetic component. But studies of genetic targets like alpha-synuclein and Leucine Rich-Repeat Kinase 2 (LRRK2) support the emerging belief that genetics plays a much greater role in Parkinson’s than was previously understood.
One of the priorities of The Michael J. Fox Foundation (MJFF) is to further research into these genetic targets, which allow scientists to better understand important mechanisms underlying disease onset and progression. By supporting projects into LRRK2 and alpha-synuclein, the Foundation aims to speed progress toward treatments that would benefit everyone with the disease, not just those with genetic mutations.
Currently, MJFF is sponsoring two projects involving BioRep: the Foundation’s landmark biomarkers study Parkinson’s Progression Markers Initiative (PPMI) and the second called the LRRK2 (Leucine Rich Repeat Kinase 2) Cohort Consortium.
BioRep serves as the biorepository for both projects scheduling and monitoring shipments of collecting kits and biological specimens from across Europe. BiopRep processes and distributes all samples and offers long term storage through its biobank platform, BioRep guarantees high standards of quality and safety.
The Parkinson's Progression Markers Initiative (PPMI) is a landmark clinical study aiming to identify biomarkers of Parkinson's disease progression. The discovery of a Parkinson's biomarker is critical to developing treatments that can go beyond symptomatic relief to slow or stop the progression of Parkinson's disease. PPMI is an observational study.
Motor and non-motor clinical data will be taken from dopamine scans and the collection of biologic fluid (blood, urine, cerebral spinal fluid). Clinical and imaging data will be made available to the PD research community at large.
In the map reported herein there are all the European collection sites for PPMI project:
Comprising more than 3,000 people across 20 clinical sites worldwide, the Cohort Consortium is one element of MJFF’s multi-pronged approach to speeding development of LRRK2-based treatments for Parkinson’s disease. Diverse populations are being assembled and studied over time to help scientists gain a better understanding of the clinical features of LRRK2 Parkinson’s. By building a network of patients and their families, and compiling significant clinical data on LRRK2 parkinsonism over time, MJFF hopes to facilitate the design and execution of conclusive clinical trials once promising drug candidates are identified.
In the second map reported herein, there are all the European collections sites of LRRK2 project: