Objective: To integrate Parkinson’s Plus Cohorts into the Global Parkinson’s Genetics Program (GP2) and design a dictionary of data to be collected.

Background: GP2 is a global initiative aimed at genetically testing international cohorts of Parkinson’s disease (PD) patients to increase understanding of the underlying genetic architecture. To date, genotyping has been completed on over 44,000 samples. The project is expanding to integrate Parkinson’s Plus Syndromes (PPS) including Progressive Supranuclear Palsy (PSP), Multiple System Atrophy (MSA), Dementia with Lewy Bodies (DLB) and Corticobasal Syndrome (CBS). This requires a new data dictionary of key clinical information in order to harmonise data collection between global cohorts.

Method: We reviewed clinical data included for PD in GP2 and data collected for PPS in the PROSPECT-M-UK study, international PPS studies and drug trials. We invited researchers from 37 countries to discuss and make suggestions for what should be included in this new data dictionary. We are also helping research centres with existing and new cohorts of PPS patients to join GP2 and submit DNA samples for genotyping.

Results: We have designed a data dictionary with 3 tiers of diagnostic data: core data (e.g. sex, diagnosis, age at onset), expanded diagnostic data (diagnostic criteria for each of the PPS syndromes) and progression and rating scales (e.g. PSPRS, UMSARS, CBFS, PSP-CDS, MDS-UPDRS). Only core data are mandatory for joining GP2 but the other data are highly desirable. We have also made data collection sheets with all this information for sites to use and plan to design a REDCAP database for ease of data storage and sharing. To date, we have identified 8149 patient samples from 90 global cohorts of PPS, including 9 newly established cohorts.

Conclusion: Integrating PPS cohorts into GP2 will increase understanding of the genetics and clinical progression of these rare diseases. It will also facilitate research in underrepresented populations through funding of genetic testing and helping to build local capacity and infrastructure. In keeping with the core aims of GP2, all genetic data will be returned to the local researchers for analysis and publication.

« Back to 2024 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/integrating-parkinsons-plus-cohorts-into-the-global-parkinsons-genetics-program/