LIPAD (LRRK2/Luebeck) International Parkinson’s Disease Study: Protocol and feasibility study
Objective: To systematically assess clinical signs and symptoms including non-motor features, comorbidities, medication and environmental factors in 1,000 participants internationally: 300 with LRRK2 (Leucine-rich repeat…Correlating LRRK2 activation status in peripheral blood to urine BMPs in monogenic and idiopathic Parkinson’s disease
Objective: The greatest unmet need in Parkinson’s disease (PD) are disease-modifying treatments. The discovery of monogenic forms of PD has provided invaluable insights into pathomechanisms…Overcoming clinical research challenges during a pandemic: selection and implementation of digital phenotyping solutions in a natural history study of G2019S LRRK2 Parkinson’s disease.
Objective: To identify candidate wearable devices or digital solutions suitable for conducting the Timed Up and Go (TUG) test and evaluate real-world performance remotely during…LRRK2 Inhibition by BIIB122 / DNL151: Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics in Ph 1 Healthy Volunteer and Ph 1B Parkinson’s Disease Trials
Objective: To evaluate safety, tolerability, pharmacokinetics (PK), and pharmacodynamics of the LRRK2 inhibitor, DNL151 (BIIB122), in healthy volunteers (HVs) and Parkinson’s disease (PD) patients. Background:…Defining LRRK2-PD subsets based on olfactory function in the PPMI
Objective: A major goal of the Parkinson Progression Marker Initiative (PPMI) is to identify clinical and biomarker defined disease subsets that may demonstrate differing disease…Virtual Assessment of LRRK2 Carriers to Optimize Research in Parkinson Disease (VALOR-PD): A Comparison to Traditional Cohorts
Objective: To compare a national virtual cohort of LRRK2 G2019S carriers, identified via a personal genetics company, to existing traditional cohorts. Background: Advancements in personal…Rare variants of the LRRK2 gene in the haplotype as one of the potential risk factors for endemic parkinsonism in a small isolated region in the Czech Republic
Objective: The aim of the study was to investigate a co-occurence of rare variants in set of genes frequently associated with parkinsonism. Background: The increased…Interest of multiplex ligation-dependent probe amplification assay to identify pathogenic mutations in Parkinson’s disease patients
Objective: To evaluate the interest of the MLPA (Multiplex Ligation-dependent Probe Amplification) commercially available kit in the genetic testing in Parkinson’s disease (PD). Background: PD…LRRK2 p.G2019S and p.N2081D variants as modifiers of glucocerebrosidase activity
Objective: To examine whether the activity of the lysosomal enzyme glucocerebrosidase (GCase) is associated with LRRK2 variants. Background: Mutations in GBA (which encodes GCase) and…LIPAD (LRRK2/Luebeck) International Parkinson’s Disease Study: Detecting genetic and environmental modifiers of penetrance and disease expression
Objective: The international multicenter LIPAD study is a deep-phenotyping, follow-up study to ROPAD (Rostock Parkinson’s Disease Study) with the aim to systematically characterize Parkinson's disease…
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