There are 5 clinical trials
The Leucine-Rich Repeat Kinase 2 (LRRK2) is implicated in autosomal dominant Parkinson's disease (PKD). An inhibitor for the leucine-rich repeat kinase 2 (LRRK2) is in pre-clinical development for potential use in treating Parkinson's disease. Patients with PKD have cognitive impairments which develop alongside the typical motor symptoms but a full characterisation of the neurocognitive phenotype of PKD patients with LRRK2 mutation is currently lacking. This observational study conducted on a single visit will assess the phenotypic neurocognitive abnormalities of PKD patients with the LRRK2 mutation with the aim of identifying potential PD endpoints related to the LRRK2 mutation for future Phase I or II clinical trials of LRRK2 inhibitors.
- Confirmed ascertainment as having the G2019S mutation in the LRRK2 gene. --- G2019S ---
Description: Action Selection, Tower of London, Shape manipulation, Emotional processing
Measure: Imaging (fMRI) Time: Day 1Description: Mini Mental State Examination (MMSE), Reward/punishment learning score, Task-set switching, Attentional set-shifting score, Spatial working memory score
Measure: Cognition Time: Day 1Description: Sniffin' sticks
Measure: Olfactory Time: Day 1Description: Unified Parkinson's Disease Rating Scale (UPDRS), Beck Depression Inventory (BDI), Parkinson's Disease Sleep Scale (PDSS), Nonmotor Symptoms Questionnaire, Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease, Caffeine/Smoking Questionnaire
Measure: Motor / Other Time: Day 1The clinical and pathological similarities between LRRK2 related parkinsonism and idiopathic Parkinson's disease (PD) indicate that monogenetic LRRK2 parkinsonism may be a paradigm for the development of Lewy bodies disease, and a careful look at discrepancies between these two conditions may provide insight into the pathogenesis of PD. The early involvement of the enteric nervous system (ENS) during PD led to theories that an as yet unidentified external agent entering the ENS causes PD . If lesions of the ENS are found in patients who present with a genetic form of parkinsonism would go against this notion, and thus provide insight to the pathophysiology of the disease.
Inclusion Criteria: - Patients aged 30-80, both genders - Parkinson's disease patients - Parkinson's disease patients with G2019S mutations - Controls: patient at risk of colic cancer for whom a coloscopy is required Inclusion Criteria: - Patients aged 30-80, both genders - Parkinson's disease patients - Parkinson's disease patients with G2019S mutations - Controls: patient at risk of colic cancer for whom a coloscopy is required Parkinson's Disease Parkinson Disease null --- G2019S ---
Inclusion Criteria: - Patients aged 30-80, both genders - Parkinson's disease patients - Parkinson's disease patients with G2019S mutations - Controls: patient at risk of colic cancer for whom a coloscopy is required Inclusion Criteria: - Patients aged 30-80, both genders - Parkinson's disease patients - Parkinson's disease patients with G2019S mutations - Controls: patient at risk of colic cancer for whom a coloscopy is required Parkinson's Disease Parkinson Disease null --- G2019S --- --- G2019S ---
This is a longitudinal study in patients with Parkinson's Disease (PD) carriers of a genetic mutation - substitution of gly with ser in position 2019 (G2019S) in the leucine-rich repeat kinase 2 (LRRK2) gene. The purpose of this study is to explore the association between genetic mutations in the known genes and their influence on disease manifestation over few years of follow up
A Longitudinal 5 Years Follow up Study in Parkinson's Disease (PD) Patients Carriers of the LRRK2 Gene G2019S Mutation. --- G2019S ---
A Longitudinal Study in Parkinson's Disease (PD) Patients This is a longitudinal study in patients with Parkinson's Disease (PD) carriers of a genetic mutation - substitution of gly with ser in position 2019 (G2019S) in the leucine-rich repeat kinase 2 (LRRK2) gene. --- G2019S ---
The primary objective of this protocol is to access the utility of 18F-DTBZ PET imaging as an in vivo biomarker to monitor neurodegeneration of both PD mouse models and PD patients. Secondary, the investigators will analyze progression rate of genetic-proving PARK8 and PARK6 patients who have homogeneous phenotype and genotype by 18F-DTBZ PET imaging.
Patients didn't have other mutations that may contribute to the parkinsonism, such as LRRK2 G2019S, LRRK2 R1628P, PARK2, PARK6, and SCA2. --- G2019S ---
Description: The annual decline rate of striatal 18F-DTBZ SUVRs (specific uptake value ratios) in PD patients carrying LRRK2 G2385R mutation, PARK6 patients, and patients with idiopathic PD, respectively.
Measure: To calculate the decline rate of striatal 18F-FP-(+)-DTBZ binding and to evaluate whether the degenerative rate differs between idiopathic PD patients and genetic-proving PARK6/PARK8 patients Time: 2 yearsDescription: To analyze the correlation between 18F-FP-(+)-DTBZ annual decline rate and the progression rate of clinical motor scores/non-motor scores/ neuropsychiatric tests in each group. Furthermore, to access the utility of 18F-DTBZ PET imaging as an in vivo biomarker to monitor neurodegeneration in PD patients.
Measure: To analyze the correlation between decline rate of 18F-FP-(+)-DTBZ uptake and clinical severity, and access the feasibility of 18F-DTBZ PET imaging as an in vivo biomarker to monitor neurodegeneration in PD Time: 1 yearPrimary Objectives: - Part 1: To determine the safety and tolerability of GZ/SAR402671 administered orally, as compared to placebo in patients with early-stage Parkinson's disease (PD) carrying a GBA mutation or other pre-specified variants. - Part 2: To determine the efficacy of GZ/SAR402671 administered orally daily, as compared to placebo in patients with early-stage Parkinson's disease carrying a GBA mutation or other pre-specified variants. Secondary Objectives: Part 1: - To assess the pharmacokinetic (PK) profile of oral dosing of GZ/SAR4027671 in plasma when administered in early-stage Parkinson's disease patients carrying a GBA mutation. - To assess the exposure of GZ/SAR402671 in cerebrospinal fluid (CSF) when administered in early-stage Parkinson's disease patients carrying a GBA mutation. Part 2: - To demonstrate overall safety and tolerability of GZ/SAR4027671 administered orally in early-stage Parkinson's disease patients carrying a GBA mutation as compared to placebo. - To assess the pharmacodynamic response to daily oral dosing of GZ/SAR402671 in plasma and CSF as measured by glucosylceramide (GL-1) when administered in early-stage Parkinson's disease patients carrying a GBA mutation.
- Patients carrying mutations in genes other than GBA that have been associated with an increased risk for PD, specifically LRKK2 (G2019S). --- G2019S ---