“The fight against Parkinson’s is an international one”, explains Prof. Rejko Krüger, coordinator of NCER-PD, involved in the establishment of the cohort. “Apart from providing an invaluable resource for future research and clinical trials, the establishment of this cohort has fostered more international collaboration in Parkinson’s research.”
About Monogenic Parkinson’s disease
In most cases of Parkinson’s disease (PD), called idiopathic PD, the cause is unknown. In rare cases, however, it can be linked to specific single genetic mutations and is then referred to as monogenic PD.
Several genes have been associated with monogenic PD during the last 20 years. Although some are associated with earlier disease onset, mutations in these genes do not present with specific clinical symptoms and can only be identified through genetic tests. Because these tests are not included in the regular diagnostics of Parkinson’s disease, comparably little information about people living with hereditary forms of the disease is available in the medical literature. With the first treatments targeting precise genetic mutations on the horizon, researchers will need a well-defined cohort of people carrying mutations associated with Parkinson’s disease to be able to advance clinical trials and bring such treatments to market.
Key stats on the new cohort
To fill this gap, a large group of researchers led by Eva-Juliane Vollstedt and Christine Klein from the University of Lübeck collected standardised and quality-checked data from different research and care centres from 42 countries in an effort supported by the Michael J. Fox Foundation.
While the cohort covers countries (in blue) harbouring ~75% of the global population, further efforts are needed to better represent regions of Africa, Central America, Eastern Europe and the Middle East.
A total of 3888 participants carrying a genetic mutation associated to Parkinon’s disease were included in the cohort, of which 3185 had been diagnosed with Parkinson’s disease, and 703 had not. Including participants unaffected by Parkinson’s is crucial as it helps researchers understand protective factors for the disease not to occur if a genetic mutation is present. This is the largest study describing patients with monogenic Parkinson’s and providing unique insights into the genetic architecture of Parkinson’s disease.
This cohort includes eight participants from the Luxembourg Parkinson Study and will support researchers worldwide to advance the global fight against Parkinson’s disease.
How this cohort helps future research
Precision medicine is an emerging area of research that focuses on using genetic information to classify patients by sub-type of Parkinson’s disease. By understanding the unique characteristics of each sub-type, personalised treatment plans can be tailored to each patient.
As the first precision medicine therapies are advancing from early clinical trials, large cohorts of people living with genetic forms of Parkinson’s disease are needed to further develop these therapies. In this regard, this new cohort is particularly valuable since most participants have agreed to be recontacted to participate in further research.
Apart from directly treating patients with genetic Parkinson’s, studying large cohorts of people carrying mutations linked to the disease can also help treat the more common sporadic cases. “By studying rare genetic forms of Parkinson’s, we can understand the mechanisms through which specific types of Parkinson’s disease develop”, explains Prof. Krüger. “This way, we can identify novel targeted pharmacological therapies which could help many more patients in the future who share defects in similar pathways that different genes or environmental factors may cause. This would even benefit those living with the sporadic form of Parkinson’s disease”, he concludes.
You too can help advance research into brain diseases!
If you are older than 50 years old and are not diagnosed with Parkinson’s or dementia, participate in a new study called the Healthy Ageing Study by clicking here. If you cannot participate yourself, share the information about this study with your friends and family so that they can fill out the quick online questionnaire.
Reference: Vollstedt, E. J., Schaake, S., Lohmann, K., Padmanabhan, S., Brice, A., Lesage, S., ... & Leite, M. A. A. Embracing monogenic Parkinson's disease: the MJFF Global Genetic PD cohort. Movement Disorders 2023, 38 (2), 286-303. https://doi.org/10.1002/mds.29288
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