Objective: To identify a worldwide cohort of patients and families with genetic Parkinson’s disease (PD) as an example of a new, comprehensive approach to global collaboration, adapted from team science approaches, and to thereby address the challenge that rare neurological diseases pose to clinicians, researchers and patients.

Background: Rare neurological diseases challenge the international research community with small sample sizes at individual sites calling for novel ways of worldwide team science.

Method: In 2018, we conducted a worldwide, systematic online survey on the availability of demographic, clinical, genetic, and additional data of patients with genetic PD due to SNCA, LRRK2, VPS35, Parkin, PINK1, DJ1, and GBAmutations. Researchers were identified extracting all corresponding authors of articles represented in the “Movement Disorder Society Genetic mutation database” (MDSGene) and through the “Genetic Epidemiology of Parkinson’s disease” (GEoPD) consortium and invited to participate in the build-up of this worldwide cohort.

Results: We identified a total of 336 researchers worldwide to participate in this study and 162 (48%) responded to our invitation; 98% indicated their interest in further collaboration. Of 103 international sites in 43 countries a total of 8,453 PD patients of >9 ethnicities were reported to have mutations in SNCA(n=263), LRRK2(n=3,182), VPS35(n=35), Parkin(n=1530), PINK1(n=260), DJ1(n=29), or GBA(n=3,154). Over 98% of investigators noted that they had demographic data; availability of clinical data ranged from 94% (age at onset) to 66% (nonmotor signs); biospecimens were available from 85% (DNA) to 8% (cerebrospinal fluid).

Conclusion: The number of patients with genetic PD identified in our study was three-fold higher than the number of cases reported in the literature. This indicates that accessing patients and data for rare diseases requires novel approaches and ways of communication. The overwhelmingly positive response and willingness to collaborate impressively highlight the relevance and power of team science.

References: The authors of this abstract are submitting behalf of the MJFF Global Genetic Parkinson’s Disease Study Group (members will be listed on the poster).

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MDS Abstracts - https://www.mdsabstracts.org/abstract/identifying-genetic-parkinsons-disease-patients-worldwide-exploiting-novel-ways-of-team-science/