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 --- --- L444P ---

evaluate the combination therapy with Miglustat and enzyme replacement therapy (ERT) on Gaucher disease

NCT02520934

Conditions

1. Gaucher Disease

Interventions

1. Drug: Miglustat
2. Drug: ERT

MeSH:Gaucher Disease

Case_Miglustat Inclusion Criteria: 1. Confirmed diagnosis of Gaucher Disease: blood test shown lack of beta- glucocerebrosidase, and found L444P homozygous on GBA gene. --- L444P ---

Control_normal Inclusion Criteria 1. Age 6-18 years 2. No significant physical, mental, or psychiatric problems Exclusion criteria 1. Children with eye disease (not include myopia, hyperopia, Astigmatism) Case_Miglustat Inclusion Criteria: 1. Confirmed diagnosis of Gaucher Disease: blood test shown lack of beta- glucocerebrosidase, and found L444P homozygous on GBA gene. --- L444P ---

The purpose of the Chinese Parkinson's disease with GBA variants Registry (CPD-GBAR) is to develop a database of patients of Parkinson's disease with Glucocerebrosidase (GBA) gene variants in mainland China.

NCT03523065

Conditions

1. Parkinson Disease

MeSH:Parkinson Disease

GBA gene variants such as L444P can influence the risk of developing PD and these variants have the greatest impact on PD susceptibility among all the PD related gene variants yet discovered. --- L444P ---