Abstract
While genetic advances have successfully defined part of the complexity in Parkinson’s disease (PD), the clinical characterization of phenotypes remains challenging. Therapeutic trials and cohort studies typically include patients with earlier disease stages and exclude comorbidities, thus ignoring a substantial part of the real-world PD population. To account for these limitations, we implemented the Luxembourg PD study as a comprehensive clinical, molecular and device-based approach including patients with typical PD and atypical parkinsonism, irrespective of their disease stage, age, comorbidities, or linguistic background. To provide a large, longitudinally followed, and deeply phenotyped set of patients and controls for clinical and fundamental research on PD, we implemented an open-source digital platform that can be harmonized with international PD cohort studies. Our interests also reflect Luxembourg-specific areas of PD research, including vision, gait, and cognition. This effort is flanked by comprehensive biosampling efforts assuring high quality and sustained availability of body liquids and tissue biopsies. We provide evidence for the feasibility of such a cohort program with deep phenotyping and high quality biosampling on parkinsonism in an environment with structural specificities and alert the international research community to our willingness to collaborate with other centers. The combination of advanced clinical phenotyping approaches including device-based assessment will create a comprehensive assessment of the disease and its variants, its interaction with comorbidities and its progression. We envision the Luxembourg Parkinson’s study as an important research platform for defining early diagnosis and progression markers that translate into stratified treatment approaches.
Highlights
Even 200 years after the first description of the diagnosis of Parkinson’s disease (PD) (Dorsey et al, 2007), there are substantial gaps in our understanding of the underlying mechanisms and the complex clinical presentation of PD
The aim is to bridge the gap between molecular information and clinical phenotype in PD, by integrating multidisciplinary competences in the area of clinical research, biomedical IT, computational modeling, and fundamental research including innovative technologies
Our study in Luxembourg and the Greater Region exemplifies the feasibility of a cohort program with both deep clinical phenotyping and high quality biosampling on parkinsonism in an environment with limited exposure to clinical research
Summary
Even 200 years after the first description of the diagnosis of Parkinson’s disease (PD) (Dorsey et al, 2007), there are substantial gaps in our understanding of the underlying mechanisms and the complex clinical presentation of PD. The differential diagnosis can remain challenging, especially at the early stages of the disease; we still lack prognostic markers predicting the disease trajectory and the treatment remains symptomatic. Strategies for defining novel treatment concepts and improving the diagnostic accuracy at the early stages need to account for the clinical and etiological heterogeneity of PD. This clinical complexity defines the variable phenotypes of the disease, which are represented by a variable combination of different motor and non-motor symptoms and ranges from early onset forms with slow disease progression and only few axial symptoms to late-onset forms with early dementia and gait disturbance (Krüger et al, 2016). Most cohort studies are excluding patients with undefined atypical parkinsonism (Mollenhauer et al, 2013; Szewczyk-Krolikowski et al, 2014), cohorts including them may better describe the various possible disease trajectories
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