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.

NCT01141023

Conditions

1. Parkinson Disease

Interventions

1. Drug: DaTscan

MeSH:Parkinson Disease

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 ---

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

NCT01274208

Conditions

1. Gaucher Disease
2. Hepatitis C

MeSH:Hepatitis A Hepatitis C Hepatitis Gauche Gaucher Disease

HPO:Hepatitis

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 ---

Development of a new mass spectrometry-based biomarker for the early and sensitive diagnosis of Gaucher Disease from blood (plasma)

NCT01331642

Conditions

1. Splenomegaly
2. Hepatomegaly

MeSH:Hepatomegaly Gaucher Disease Splenomegaly

HPO:Hepatomegaly Splenomegaly

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 ---

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.

NCT04002830

Conditions

1. Gaucher Disease, Type 3

Interventions

1. Drug: Elelyso

MeSH:Gaucher Disease

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 ---