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Funded Studies

A Global Search for People with a Rare, Inherited Form of Parkinson's Disease

Study Rationale:
Mutations, or changes, in the genes PRKN and PINK1 cause inherited Parkinson's disease (PD) that starts at an early age. This type of Parkinson's accounts for roughly 13 percent of all early-onset cases. Because of the similarities between the disease caused by one of these mutations (monogenic PD) and the disease with an unknown cause (idiopathic PD), studying monogenic PD could help to better understand not only inherited but also idiopathic forms of PD.

Identifying people carrying PRKN and PINK1 mutations in different countries will allow us to collect and organize important clinical and genetic information relevant to PD. This approach will also allow us to establish a global network of neurologists and neuroscientists who work with people with monogenic PD and study this important Parkinson's subtype. We aim to identify enough people with PD to conduct clinical trials.

Study Design:
We will screen all available publications on PD caused by PRKN and PINK1 mutations and assemble a list of neurologists and movement disorders specialists working with people with this type of Parkinson's. We will then invite all of those clinicians to apply for participation in the network. Their application would include details of clinical features, availability of biomaterials and opportunities for data and sample sharing.

Impact on Diagnosis/Treatment of Parkinson's disease:
It is likely that different subgroups of people with Parkinson's, including those with PRKN and PINK1 mutations, will benefit from gene-specific, targeted treatment. This project aims to collect information on groups of people from different countries with these important but rare PD subtypes. The ultimate aim of this project is to better understand the disease cause and to identify patients eligible for clinical trials focused on these types of PD.

Next Steps for Development:
This project will establish a large, international network of clinicians and researchers working on PRKN- and PINK1-associated PD. It will also lay the foundation for clinical trials of gene-specific treatments for Parkinson's disease


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