A Global Database of People with Inherited Parkinson's Disease

Study Rationale:
Changes (mutations) in genes PRKN, PINK1, DJ1, SNCA, LRRK2 and VPS35 can cause inherited Parkinson's disease (PD). Also, mutations in the GBA gene are associated with an increased risk of developing the disease as well as with a less favorable disease course. Studying inherited PD is a good way to better understand not only the inherited form of disease but also the idiopathic form because of the similarity between them.

Hypothesis:
Creating a global database of people with PD-causing mutations will help us accomplish several goals. First, we will collect large volumes of clinical and genetic information. Second, we will establish a worldwide network of neurologists and neuroscientists working with people with inherited Parkinson's disease. Third, our database of people with Parkinson's will be large enough to be used in clinical trials.

Study Design:
We invited authors of research articles describing people with inherited PD to respond to a survey. A half responded to our survey, and 98% of them confirmed their interest in participating in the study. So far over 9,000 people with inherited PD have been reported by investigators at 150 sites worldwide. In the second half of this study, we will obtain clinical and genetic information about people with Parkinson's-linked mutations, curate the data, which includes, for example, a careful evaluation of the described mutation for its ability to cause the disease, and build an electronic database of this information once it has been anonymized. We will also determine whether and how biosamples, such as DNA, and data from the study participants can be used and shared in the future.

Impact on Diagnosis/Treatment of Parkinson's Disease:
Different subgroups of people with inherited PD are likely to benefit from different treatment tailored to the specific disease-causing mutation. The present study, which aims to collect information on important, albeit rare, PD subtypes, will help to better understand the causes of disease and to identify participants for specific clinical trials.

Next Steps for Development:
Through this study a large, international database on inherited Parkinson's disease will be established. Hence, this study will lay the foundation for clinical trials specific to each gene linked to PD.