Parkinson’s disease is a degenerative disease of the central nervous system. The degeneration of dopaminergic cells to the level of the Black Substance, a nucleus located in the midbrain, causes the appearance of motor symptoms of Parkinson’s disease. The reason for this phenomenon is currently unknown.

The main symptoms of Parkinson’s disease are characterized by stiffness, tremor, bradykinesia and difficulty in walking. In the advanced stage of the disease, people affected may also experience cognitive and behavioral problems.

Researchers have shown that Parkinson’s disease is characterized by the accumulation of a protein called alpha-synuclein in dense nuclei called Lewy’s Bodies. The distribution of these is unpredictable and varies depending on the subject, although it is found in all Parkinson’s patients. Nowadays more than 5 million people in the world are affected by Parkinson’s disease.

Recently, research has achieved significant results in understanding the role of genetics in Parkinson’s disease. Currently only 5% of cases can be attributed to genetic components; however, studies conducted on genes such as alpha-synuclein and Leucine Rich-Repeat Kinase 2 (LRRK2) support the emerging hypothesis that genetics plays a much greater role than previously believed.

One of the priorities of the Michael J. Fox Foundation (MJFF) is to direct and promote research on these genetic targets, with the aim of better understanding the origin and progression of Parkinson’s disease. By supporting study projects on LRRK2 and alpha-synuclein, the foundation aims to find a cure as soon as possible that can benefit all patients and not just those who are carriers of the mutations.

Currently, MJFF is funding two projects in which BioRep is involved: a major project on biological markers called Parkinson’s Progression Markers Initiative (PPMI) and a clinical consortium on LRRK2 called LRRK2 Cohort Consortium.

BioRep in this context offers itself as a biorepositor for both projects, organizing and monitoring sample collection kit shipments throughout Europe. BioRep also takes care of the processing and distribution of the biological material and offers its storage platform ensuring the highest levels of quality and safety in every step.

The PPMI project is an observational clinical study that aims to identify biological markers of Parkinson’s disease progression, a fundamental step to develop treatments that go beyond the treatment of symptoms and lead to the slowing or stopping of the disease itself.

Motor and non-motor clinical data are acquired through cerebral SPECT and collection of biological fluids (blood, urine, cephalo-rachidian fluid). All this valuable information will then be made available and accessible to the entire scientific community involved in research against Parkinson’s disease. The collection sites active in Europe for the PPMI project are shown in the map below.

Gathering information from more than 3,000 people in 20 clinical centers worldwide, the LRRK2 Cohort Consortium is one of the fronts on which MJFF is working to accelerate the development of Parkinson’s disease therapies specifically targeted on LRRK2. Several cohorts are assembled and studied over time in order to better understand the clinical features of Parkinson’s disease related to LRRK2. By building a network, consisting of patients and their families, and through the progressive collection of clinical data on these particular forms of Parkinson’s disease, MJFF hopes to facilitate the design and execution of clinical trials that will lead to clear results once promising and effective drugs are identified.

In the second map below we find the European collection sites for the LRRK2 project.