NICE, FRANCE — A global collaboration aimed to identify patients and families with genetic Parkinson disease (PD) has led to a 3-fold higher detection rate of genetic PD, compared to the number of cases reported in the literature, according to study results presented at the International Congress of Parkinson’s Disease and Movement Disorder, held September 22 to 26, 2019 in Nice, France.
One of the most prominent challenges associated with rare neurological disease is the small sample sizes at various medical centers. In these cases, there is a need for a new, comprehensive approach to global collaboration and team science.
A worldwide, systematic online survey on the availability of demographic, clinical and genetic data of patients with genetic PD was conducted in 2018. The cases included genetic PD due to SNCA, LRRK2, VPS35, Parkin, PINK1, DJ1, and GBA mutations.
Of the 336 researchers worldwide invited to the study, 162 (48%) responded and almost all of them (98%) indicated their interest in further collaboration. Overall, 103 international sites in 43 countries reported 8453 patients with genetic PD. These included patients with mutation in SNCA (263 subjects), KRRK2 (3182 subjects), VPS35 (35 subjects), Parkin (1530 subjects), PINK 1 (260 subjects), DJ1 (29 subjects), or GBA (3154 subjects).
Compared to the cases reported in the literature, this worldwide survey identified a 3-fold higher number of patients with genetic PD.
“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,” concluded the researchers.
Thomas Gasser, Director at the Department of Neurodegeneration at Hertie Institute for Clinical Brain Research, in Tuebingen, Germany, remarked that “[t]his initiative is of high relevance because it is becoming increasingly clear that even relatively common diseases like PD are highly etiologically heterogeneous syndromes and that progress towards early diagnosis and causative treatments will depend on the identification of sufficient numbers of well-defined subgroups.” He goes on to add that such efforts “will only be possible by collaborations at a very large, preferably worldwide scale.”
- E-J. Vollstedt, M. Kasten, C. Klein. Identifying genetic Parkinson’s disease patients worldwide: Exploiting novel ways of team science. Poster presentation at the International Congress of Parkinson’s Disease and Movement Disorders; 22-26, 2019; Nice, France. Abstract: 1135.
- Worldwide Online Survey Aims to Identify a New Comprehensive Approach to Global Collaboration for Parkinson’s Disease [news release]. Nice, France: Movement Disorder Society; September 24, 2019. https://www.movementdisorders.org/MDS/News/Newsroom/News-Releases/News-Release-Worldwide-Online-Survey-Aims-to-Identify-a-New-Comprehensive-Approach-to-Global.htm. Accessed September 25, 2019.