There are 4 clinical trials
Development of a new mass spectrometry-based biomarker for the early and sensitive diagnosis of Gaucher Disease from blood (plasma)
More frequent mutations are N370S, L444P, IVS2+1G>A, c.84insG, R463C and R496H. --- N370S ---
The exception is the mutation N370S, which has so far been detected in connection with only visceral progress forms (type1). --- N370S ---
Description: Next-Generation Sequencing (NGS) of the GBA gene will be performed. The mutation will be confirmed by Sanger sequencing.Measure: Sequencing of the Gaucher disease related gene Time: 4 weeks
Description: The quantitative determination of small molecules (molecular weight 150-700 kD, given as ng/μl) within a dried blood spot sample will be validated via liquid chromatography multiple reaction-monitoring mass spectrometry (LC/MRM-MS) and compared with a merged control cohort. The statistically best validated molecule will be considered as a disease specific biomarker.Measure: The Gaucher disease specific biomarker candidates finding Time: 24 months
Study objectives: - Investigate the anti-HCV response in patients with Gaucher disease(GD) - Define the potential role of high levels of Glucocerebroside in the immune system Study hypothesis: High levels of Glucocerebroside can be used as a tool in the antiviral treatment of hepatitis C by potentiating the immune response of natural killer T cells and dendritic cells
Of these mutations, N370S (or 1226G) occurs in 1 out of 17 Ashkenazi individuals, leading to a disease frequency of 1:850 in this ethnic group. --- N370S ---
This is a multicenter study to assess the safety and efficacy of taliglucerase alfa (60 units/kg) in previously untreated subjects of any age with Type 3 GD. Subjects will receive an infusion of taliglucerase alfa every 2 weeks for 12 months. Subjects who tolerate the infusions well, and who are treated in centers where home therapy is the SOC will be allowed to switch from site to home treatment at the discretion of the PI but after no less than 3 uneventful infusions at the site.
At least one allele of: - N370S (N409S in recent nomenclature) - R496H (R535H in recent nomenclature) 4. Presence of calcification in heart valves or arteries in echocardiography. 5. Presence of untreated iron, folic acid, vitamin B12 deficiency and/or hypothyroidism. --- N370S ---
Description: Percent change from baselineMeasure: Percent change from baseline in spleen volume measured by MRI Time: from baseline to month 12
Description: Percent change from baselineMeasure: Percent change from baseline in liver volume measured by MRI Time: from baseline to month 12
Description: Percent change from baselineMeasure: Percent change in hemoglobin Time: from baseline to Months 3, 6, 9, and 12
Description: Percent change from baselineMeasure: Percent change in platelet count Time: from baseline to Months 3, 6, 9, and 12
Description: Percent change from baselineMeasure: Percent change in Lyso-GB1 Time: from baseline to Months 3, 6, 9, and 12
This is a observational, multi-center study to assess progression of clinical features, imaging and biologic biomarkers in Parkinson disease (PD) patients compared to healthy controls (HC) and in PD patient subtypes. The primary objective of this study is to identify clinical, imaging and biologic markers of PD progression for use in clinical trials of disease-modifying therapies.
Addition of PPMI Pathology Core/PPMI Brain and Tissue Bank Addition of Gait Assessment Companion Study (Select PPMI sites - Genetic Cohort only) Testing for additional GBA mutations - previously testing involved testing only for the GBA N370S mutation; however, going forward, testing will include tests for additional GBA mutations that are identified as being associated with certain ancestry. --- N370S ---
Description: The mean rates of change and the variability around the mean of clinical, imaging and biomic outcomes in early PD patients, and where appropriate the comparison of these rates between PD patient subsets and between various subsets (including, but not limited to: PD vs. healthy subjects, PD vs. SWEDD, PD vs. prodromal, PD with and without LRRK2, GBA or SNCA mutation, unaffected LRRK2, GBA or SNCA mutation carriers vs. healthy controls) at study intervals ranging from 3 months to 36 months. Specific examples of outcomes include MDS-UPDRS, dopamine transporter imaging striatal uptake, vesicular monoamine transporter type-2 uptake, and serum and CSF alpha-synuclein. PD patient subsets may be defined by baseline assessments, genetic mutations, progression milestones and/or rate of clinical, imaging, or biomic change.Measure: Mean Rates of Change Time: Baseline to 156 months
Description: Comparison between the rates of change in the mean of clinical, imaging and biomic outcomes in various subsets (including, but not limited to: early PD vs. healthy subjects, PD vs. SWEDD, PD vs. prodromal, PD with and without LRRK2, GBA or SNCA mutation, unaffected LRRK2, GBA or SNCA mutation vs. healthy controls)Measure: Comparison between Rates of Change Time: Study intervals ranging from 3 months to 156 months
Description: Including, but not limited to: early PD patients, healthy subjects, PD vs SWEDDs, PD vs prodromal, PD with and without LRRK2, GBA or SNCA mutation, unaffected LRRK2, GBA or SNCA mutation carriers vs. healthy subjects.Measure: Prevalence of measures of clinical, imaging and biomic outcomes in various subsets ( Time: study intervals ranging from baseline to 156 months.
Description: To establish the predictive value of early clinical non-motor features, baseline imaging and biomic outcomes for future course of disease.Measure: Predictive Value Time: Baseline to 156 months
Description: SWEDD Clinical Diagnosis and Management Questionnaire.Measure: To examine the proportion of SWEDD subjects that have a change in their clinical management at 24 months Time: Baseline to 156 Months
Description: Exploratory analysis to estimate the percentage of Prodromal subjects with one or more risk characteristics [hyposmia (<10th percentile for age and gender), RBD, or LRRK2, GBA or SNCA genetic mutation, and baseline DaTSCAN binding showing minimal to moderate DAT deficit] that phenoconvert to PD within 2 years, and an exploratory analysis to examine whether the baseline DaTSCAN binding or progression of clinical, imaging, or biospecimen markers may predict those subjects likely to phenoconvert.Measure: Exploratory Analysis Time: Baseline to 156 months