SNPMiner Trials by Shray Alag


SNPMiner SNPMiner Trials (Home Page)


Report for Mutation G2019S

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 5 clinical trials

Clinical Trials


1 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 Genetic: Healthy Genetic: PKD Patients
MeSH: Parkinson Disease

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

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

2 Study of the Enteric Nervous System Using Colonic Biopsies in Parkinson Patients With LRRK2 Mutation

The 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.

NCT01618383 Parkinson's Disease Other: colonoscopy or rectosigmoidoscopy
MeSH: Parkinson 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 ---

Primary Outcomes

Measure: Presence of alpha-synuclein aggregates in colonic biopsies using immunohistochemistry

Time: 3 months

Secondary Outcomes

Measure: Analysis of intestinal permeability in biopsies using Ussing's chambers

Time: 3 months

3 A Longitudinal 5 Years Follow up Study in Parkinson's Disease (PD) Patients Carriers of the LRRK2 Gene G2019S Mutation

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

NCT01730599 Parkinson's Disease Other: neurological exam
MeSH: Parkinson Disease

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 ---

Primary Outcomes

Measure: change from baseline in updrs motor and total scores

Time: the participants will be followed for 5 years. the measurements will be taken evry 18 month.

4 From Mouse Models to Patients: Development of a Novel 18F-DTBZ PET Imaging as a Biomarker to Monitor Neurodegeneration of PARK6 and PARK8 Parkinsonism

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.

NCT01759888 Parkinson's Disease Drug: 18F-DTBZ
MeSH: Parkinson Disease Parkinsonian Disorders Nerve Degeneration
HPO: Neurodegeneration Parkinsonism

Patients didn't have other mutations that may contribute to the parkinsonism, such as LRRK2 G2019S, LRRK2 R1628P, PARK2, PARK6, and SCA2. --- G2019S ---

Primary Outcomes

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 years

Secondary Outcomes

Description: 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 year

5 Multicenter, Randomized, Double-blind, Placebo Controlled Study to Assess the Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of GZ/SAR402671 in Patients With Early-stage Parkinson's Disease Carrying a GBA Mutation or Other Pre-specified Variant.

Primary 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.

NCT02906020 Parkinson's Disease Drug: GZ/SAR402671 Drug: Placebo
MeSH: Parkinson Disease

- Patients carrying mutations in genes other than GBA that have been associated with an increased risk for PD, specifically LRKK2 (G2019S). --- G2019S ---

Primary Outcomes

Measure: Change from baseline in Movement Disorder Society Unified Parkinson's Disease Rating Scale Part II and III score

Time: From baseline to Week 8, and at Week 52

Secondary Outcomes

Measure: Change from baseline in Parkinson's Disease Cognitive Rating Scale

Time: From baseline to Week 52

Measure: Change from baseline in Movement Disorder Society Unified Parkinson's Disease Rating Scale Part I, II, and III score

Time: From baseline to Week 52

Measure: Change from baseline in Hoehn and Yahr score

Time: From baseline to Week 52


HPO Nodes


Neurodegeneration
Genes 81
PRNP TREM2 CSF1R WDR45 ATXN3 PRPH GM2A UBTF UBQLN2 ATXN2 TBK1 PON1 FTL ADAR TREX1 MATR3 ATXN3 GM2A DAO RNASEH2C SQSTM1 UCHL1 MFSD8 TANGO2 NEFH ABCD1 PLA2G6 EPHA4 IFIH1 COQ2 RNASEH2A CCNF ANG DCTN1 PON2 ANXA11 ZBTB20 GLT8D1 FIG4 ATXN3 OPTN TARDBP CHMP2B VAPB IDS HNRNPA1 C19ORF12 PANK2 GALC CFAP410 PFN1 TXN2 SOD1 IDUA C9ORF72 NBN ERBB4 FA2H TTC19 PON3 GLE1 NARS2 NAXD NEK1 CHCHD10 PPARGC1A FOLR1 RNASEH2B GUSB PDE8B MAPT COASY UNC13A PLA2G6 LYST VCP PCNA TAF15 FUS AARS2 SAMHD1
Parkinsonism
Genes 160
ATXN2 DCTN1 PPP2R2B FBXO7 TWNK WDR45 PRKN GRN AFG3L2 TMEM106B DNAJC13 SNCA TBP TAF1 MAPT ADH1C SNCB PDE10A APOE VCP PLA2G6 MAPT SLC30A10 DCTN1 SORL1 C19ORF12 TAF1 FUS MAPT HTRA2 AP5Z1 COQ2 MECP2 PLA2G6 SNCA DNAJC5 AFG3L2 COQ2 PINK1 NR4A2 ATP6AP2 PRKRA ATP13A2 VPS13C CHMP2B GBA PANK2 PSEN1 GLUD2 PARK7 PTS LRRK2 PLAU POLG PSEN1 TRPM7 NOS3 CHCHD10 MPO HFE VCP PANK2 ATXN2 GBA TK2 DNAJC12 SQSTM1 MAPT XPR1 PDGFB PDE10A ATP6AP2 FTL KIF5A MAPT GIGYF2 MAPT RAB39B TREM2 SNCA SLC20A2 C9ORF72 TBP SYNJ1 TARDBP PPP2R2B C9ORF72 KIF5A TREM2 TBK1 WDR45 MAPT ABCA7 C9ORF72 VPS13A UBTF SLC18A2 ATXN8OS GCH1 ATXN2 TOMM40 GRN PDGFB PRKRA FTL PDGFRB CHCHD10 SLC6A3 SLC39A14 SNCA JPH3 LRRK2 GIGYF2 COQ2 ATP1A3 MAPT C9ORF72 ATP13A2 COASY PRNP CLN3 MYORG PSEN2 FBXO7 GCH1 ATXN3 SNCAIP FMR1 SLC18A2 C19ORF12 PRKAR1B MAPT POLG AP5Z1 PSEN1 TH MECP2 EIF4G1 POLG SLC39A14 EIF4G1 APP TBP APP VPS35 TH DNAJC6 VPS35 TMEM240 ATP13A2 ATP1A3 SLC6A3 A2M CP FMR1 PDGFRB ATP13A2 GBA SNCA VCP