LIPAD - LRRK2 International Parkinson's Disease Study (LIPAD)
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|ClinicalTrials.gov Identifier: NCT04214509|
Recruitment Status : Recruiting
First Posted : January 2, 2020
Last Update Posted : February 27, 2020
|Condition or disease|
|Parkinson's Disease and Parkinsonism|
|Study Type :||Observational|
|Estimated Enrollment :||4000 participants|
|Official Title:||LIPAD - LRRK2 International Parkinson's Disease Study: an International, Multicenter, Epidemiological Observational Study|
|Actual Study Start Date :||January 20, 2020|
|Estimated Primary Completion Date :||December 31, 2021|
|Estimated Study Completion Date :||December 31, 2021|
PD + LRRK2
Patients with LRRK2-associated Parkinson's syndrome
no PD + LRRK2
Participants with LRRK2-mutations but without Parkinson's symptoms
no PD + no LRRK2
Participants without mutations and without Parkinson's symptoms
PD+ other than LRRK2
Parkinson patients with mutations in other genes than LRRK2
PD+ no LRRK2
Patients with idiopathic Parkinson's disease
- Epidemiology of LRRK2-positive patients [ Time Frame: 2 years ]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.
- Analysis of penetrance of LRRK2 mutations [ Time Frame: 2 years ]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.
- Analysis of expressivity of LRRK2 mutations [ Time Frame: 2 years ]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.
Biospecimen Retention: Samples With DNA
Blood and urine samples will be biochemically analysed to determine factors leading to incomplete penetrance in LRRK2 positive carriers and biomarkers of Parkinson's disease.
In blood samples DNA and DNA methylation, RNA and proteins will be analysed. Urine samples will be analysed using NGS-based sequencing of the mitochondrial genome and search for mitochondrial DNA deletions.
Dust will be analysed toxicologically.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04214509
|Contact: Meike Kasten, Prof. Dr.||+email@example.com|
|Institute of Neurogenetics||Recruiting|
|Luebeck, Schelswig-Holstein, Germany, 23562|
|Contact: Tatiana Usnich, MD, PhD +4945131017518|
|Contact: Nathalie Schell, MD +4945131017518|
|Principal Investigator:||Christine Klein, Prof. Dr.||Institute of Neurogenetics, University of Luebeck|
|Principal Investigator:||Meike Kasten, Prof. Dr.||Department of Psychiatry, University of Luebeck|