An observational study in Parkinson's Disease and Parkinsonism, sponsored by University of Luebeck. Status unknown at 1 site in Germany. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2020-02-27.
Sponsored by University of Luebeck · Observational
The study aims to identify and systematically characterize Parkinson's patients with mutations in the LRRK2 gene. In about 90% of Parkinson's patients the cause of the disease is unclear. Based on current knowledge, it can be assumed that there are several causes and that the causes may be differ between patients; this makes research into the pathogenesis and possible therapies very difficult. In the case of monogenic Parkinson's diseases, which are due to changes in one gene (e.g. LRRK2), the function of the gene and possible disease mechanisms can be investigated. LRRK2-associated Parkinson's syndrome is clinically indistinguishable from idiopathic Parkinson's disease. It is inherited autosomal dominant, that means if one of the two gene copies is altered, the disease occurs. However, the disease does not occur in every mutation carrier, the penetrance is reduced and the mechanisms for that are still unclear. Ideally, knowledge of what influences penetrance could make it possible to exert targeted influence and prevent the disease. The comprehensive investigation of mechanisms of reduced penetrance but also of the effects of the mutation itself requires systematic investigations of as many affected persons as possible. We therefore aim to identify 4,000 people internationally, of them 1,500 with LRRK2-associated Parkinson's syndrome, 500 with LRRK2-mutations but without Parkinson's symptoms, 500 without mutations and without Parkinson's symptoms, 500 Parkinson patients with mutations in other genes than LRRK2 and 1,000 patients with idiopathic Parkinson's disease from the same populations. The participants will undergo a comprehensive survey on Parkinson's symptoms, concomitant diseases, environmental factors and medication and there is the possibility of more detailed genetic examinations. Participants will be asked to donate samples of blood, urine and household dust.
4,487 studies on the registry are indexed under Parkinson Disease; 1,082 are open to participants now.
This study's planned enrollment of 4,000 is above the median of 96 across 1,057 observational studies indexed under Parkinson Disease.
Browse Parkinson Disease studies →University of Luebeck is the lead sponsor of 74 studies on the registry; 13 are open to participants now.
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Patients with Parkinson's disease or family members of participants with LRRK2 parkinsonism or members of a high risk population with an early PD onset, able to provide informed consent and equal or older than 18 years old.
Exclusion Criteria:
Patients with LRRK2-associated Parkinson's syndrome
Participants with LRRK2-mutations but without Parkinson's symptoms
Participants without mutations and without Parkinson's symptoms
Parkinson patients with mutations in other genes than LRRK2
Patients with idiopathic Parkinson's disease
Epidemiology of LRRK2-positive patients
Description of the frequency of all important clinical signs and symptoms including non-motor signs and factoring in the most important influencing factors such as sex, disease duration, and medication. We will report raw and corrected frequencies with 95% confidence intervals.
Time frame: 2 years
Analysis of penetrance of LRRK2 mutations
Penetrance rates (the proportion of individuals with LRRL2 mutation who exhibit clinical symptoms of Parkinson's disease) and phenotypes, and will try to predict penetrance in logistic regression models and quantify the influence of different factors impacting on penetrance.
Time frame: 2 years
Analysis of expressivity of LRRK2 mutations
We will analyze expressivity (the degree in which a genotype is phenotypically expressed) of LRRK2 mutations. We will first define meaningful categories using our phenotypic data and then proceed to identify influencing factors.
Time frame: 2 years
Plan to share: No — The Plan will be defined at later stages.
This study is status unknown, as verified in Feb 2020. You cannot join it, but the record below documents what was studied.
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University of Luebeck