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Report for Clinical Trial NCT01424475

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

LRRK2 Mutation and Parkinson's Disease: A Functional Neuroimaging and Behavioural Study Characterising the Neurocognitive Phenotype

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.

NCT01424475 Parkinson Disease
MeSH: Parkinson Disease

2 Interventions

Name: Healthy

Description: Healthy Volunteers

Type: Genetic

Healthy Controls

Name: PKD Patients

Description: PKS Patients

Type: Genetic

PKD Patients

Primary Outcomes

Description: Action Selection, Tower of London, Shape manipulation, Emotional processing

Measure: Imaging (fMRI)

Time: Day 1

Description: Mini Mental State Examination (MMSE), Reward/punishment learning score, Task-set switching, Attentional set-shifting score, Spatial working memory score

Measure: Cognition

Time: Day 1

Description: Sniffin' sticks

Measure: Olfactory

Time: Day 1

Description: 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 1

Purpose: Other

Allocation: Non-Randomized

Single Group Assignment

There is one SNP


1 G2019S

- Confirmed ascertainment as having the G2019S mutation in the LRRK2 gene. --- G2019S ---

HPO Nodes