Clinical trials: Gaucher Disease
Parkinson Disease, Gaucher Disease
Detecting Dopaminergic Deficits in Individuals At-risk for Parkinsonism
The purpose of this study is to determine if participants have changes in dopamine cells in their brain using DaTSCAN™ brain imaging.
- Conditions
- Parkinson Disease, Gaucher Disease, Idiopathic Rapid Eye Movement Sleep Disorder
- Trial name
- NCT01358474
- Where
- United States
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- University of Minnesota
Gaucher Disease
Miglustat on Gaucher Disease Type IIIB
evaluate the combination therapy with Miglustat and enzyme replacement therapy (ERT) on Gaucher disease
- Trial name
- NCT02520934
- Testing
- Miglustat, ERT
- Where
- Taiwan
- Volunteers
- 19 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Parkinson Disease, Gaucher Disease
Biomarker Analysis for GBA Associated Parkinson's Disease
The primary aim of the study is to conclusively demonstrate the possibility of using the following molecules, α-Synuclein, LRRK2 and Parkin individually or in combination as biomarkers for Parkinson's disease (PD) progression in…
- Trial name
- NCT03811496
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Lysosomal Storage Diseases
Screening of Lysosomal Storage Disorders Diseases in Minority Groups
Aim is to undertake a screening study that identifies undiagnosed patients with LSDs and determine the prevalence of these diseases with special focus on underrepresented minority groups.
- Trial name
- NCT03812042
- Testing
- Enzyme assay and molecular sequencing
- Where
- United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Gaucher Disease
Exploration of Immunity in Gaucher Disease
Gaucher disease (GD), the inherited deficiency of the lysosomal enzyme glucocerebrosidase is characterized with accumulation of abnormal lipid in cells of the immune system, called macrophages.
- Trial name
- NCT01358188
- Where
- United States
- Volunteers
- 33 people, healthy volunteers welcome
- Sponsor
- O & O Alpan LLC
Lysosomal Storage Disorders, Gaucher Disease
Investigating Lysosomal Storage Diseases in Minority Groups
Although lysosomal storage disorders, such as Fabry disease, Gaucher disease, and Pompe disease, represent serious challenges in the healthcare system, no study has yet investigated the prevalence of these diseases in the US.
- Conditions
- Lysosomal Storage Disorders, Gaucher Disease, Fabry Disease, Pompe Disease
- Trial name
- NCT02120235
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- O & O Alpan LLC
Gaucher Disease
A Study of the Effects of Renal Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate
Primary Objective: To study the effect of mild, moderate, and severe renal impairment on the pharmacokinetics (PK) of eliglustat.
- Trial name
- NCT02536937
- Testing
- eliglustat
- Where
- 3 sites in United States
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Sanofi
Gaucher Disease
A Study of the Effects of Hepatic Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate
Primary Objective: To study the effect of mild and moderate hepatic impairment on the pharmacokinetics (PK) of eliglustat. Secondary Objective: To assess the tolerability of eliglustat tartrate given as a single dose in subjects…
- Trial name
- NCT02536911
- Testing
- eliglustat
- Where
- 2 sites in United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Genzyme, a Sanofi Company
Gaucher Disease
Auto-antibodies Prevalence and CD1 Role in Gaucher Disease
Hypergammaglobulinaemia is frequently observed in type 1 Gaucher disease (GD1), being either polyclonal or monoclonal gammopathies. Polyclonal hypergammaglobulinemia may be related to the presence of autoantibodies.
- Trial name
- NCT02650219
- Testing
- genetic analyses
- Where
- 11 sites in France
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Hospital St. Joseph, Marseille, France
Gaucher Disease
Taste Evaluation of Different Liquid Formulations With Eliglustat
Primary Objective: The purpose of this study is to assess the palatability of eliglustat prototype liquid formulations in healthy subjects.
- Trial name
- NCT02422654
- Testing
- eliglustat
- Where
- United States
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Genzyme, a Sanofi Company
Gaucher Disease, Hepatitis C
Examining the Immune Response in Patients With Gaucher Disease and Hepatitis C
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…
- Trial name
- NCT01274208
- Where
- 2 sites in Israel
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Shaare Zedek Medical Center
Gaucher Disease Type 1
Comparison of BMD Measurement by DEXA to BeamMed Speed-of-Sound Measurement at Forearm in Patients With Gaucher Disease
The purpose of this study is to compare the accuracy and comparability and secondarily to assess the values achieved by measurement of the forearm BMD by DXA and SOS by BeamMed, relative to standard DXA evaluations at the FN and…
- Trial name
- NCT02067247
- Testing
- BeamMed Speed-of-Sound bone strength test at forearm
- Where
- Israel
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Shaare Zedek Medical Center
Fibrosis
Assessment Of Liver and Spleen Fibrosis in Patients With Gaucher Disease Using Fibroscan
The investigated cohort will examine liver and spleen fibrosis in patients with Gaucher disease divided into two groups, naive GD patients and GD patients treated with ERT.
- Trial name
- NCT01898325
- Testing
- Fibroscan
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Rambam Health Care Campus
Gaucher Disease
A Study of the Tolerability, Safety, and Pharmacokinetics of ISU302 in Healthy Volunteers
The purpose of this study is to assess the safety, tolerability, and pharmacokinetics of single dosing study with three ascending dose cohorts of ISU302 in healthy subjects.
- Trial name
- NCT01881633
- Testing
- ISU302
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- ISU Abxis Co., Ltd.
Gaucher's Disease
Gene Therapy for Gaucher's and Fabry Disease Using Viruses and Blood-Forming Cells
Gaucher's disease is a lysosomal storage disease resulting from glycocerebroside GLUCOCEREBROSIDE (1) accumulation in macrophages due to a genetic deficiency of the enzyme glucocerebrosidase. It may occur in patients of all ages.
- Trial name
- NCT00001234
- Testing
- human glucocerebrosidase cDNA
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Gaucher Disease
Phase I Single Dose-Escalation Safety Study of Human Glucocerebrosidase (prGCD)
Gaucher disease, the most prevalent lysosomal storage disorder, is caused by mutations in the human glucocerebrosidase gene (GCD)leading to reduced activity of the lysosomal enzyme glucocerebrosidase and thereby to the…
- Trial name
- NCT00258778
- Testing
- Human Glucocerebrosidase (prGCD)
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Protalix