Clinical trials: Gaucher Disease
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
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
Parkinson's Disease, Gaucher's Disease
Intravenous N-acetylcysteine for the Treatment of Gaucher's Disease and Parkinson's Disease
The investigators are interested in determining if the investigators are able to detect changes in brain chemistry using Magnetic Resonance Spectroscopy (MRS) in individuals with Parkinson's disease (PD), those with Gaucher's…
- Trial name
- NCT01427517
- Testing
- N-acetylcysteine
- Where
- United States
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- University of Minnesota
Lysosomal Storage Disorders
Molecular and Cellular Mechanisms of Lysosomal Storage Diseases
The lysosome is a specialized part of the cell that functions to degrade metabolic wastes in the cell. Defects in the functioning of the lysosome result in accumulation and subsequent storage of such metabolic wastes.
- Trial name
- NCT02000310
- Where
- United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- O & O Alpan LLC
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
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 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
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
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
MR Spectroscopy and Disease Severity Score for Gaucher in Pediatric Population
The bone status in Gaucher disease is very difficult to monitor precisely in children. This is a major problem because lack of optimal treatment, especially enzyme replacement, may cause irreversible severe bone damage that will…
- Trial name
- MRS in Gaucher (NCT01397435)
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
Gaucher Disease
A Study Measuring Substances Potentially Indicating Bone Problems in Adults With Type 1 Gaucher Condition
Substances in the body, so-called biomarkers, can help predict the severity of Gaucher disease (GD)-related bone problems in adults.
- Trial name
- NCT05702814
- Testing
- No Intervention
- Where
- Spain
- Volunteers
- 125 people, healthy volunteers welcome
- Sponsor
- Takeda
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.
Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a…
- Conditions
- Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease
- Trial name
- ScreenPlus (NCT05368038)
- Testing
- Confirmatory Testing
- Where
- 9 sites in United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Albert Einstein College of Medicine
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
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's Disease Type I
A Study to Evaluate Absolute Bioavailability, Absorption, Metabolism, and Excretion of Genz-112638 in Healthy Male Participants
Objectives: To determine pharmacokinetic (PK) variables, including absolute bioavailability (F), of Genz-99067, the free base of the L-tartaric acid salt of Genz-112638 as it exists in plasma, after a single intravenous (IV) dose…
- Trial name
- NCT06143904
- Testing
- Genz-112638, [14C]-Genz-112638
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Sanofi
Gaucher Disease
A Phase I Study to Compare Abcertin and EU-sourced Cerezyme® in Healthy Volunteers
Primary Objective: To compare the pharmacokinetics of Abcertin to the reference product, EU-sourced Cerezyme, after single intravenous administration of 60 IU/kg.
- Trial name
- NCT04787887
- Testing
- Abcertin, EU-sourced Cerezyme
- Where
- Australia
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- ISU Abxis Co., Ltd.
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
Lysosomal Storage Disorders, Gaucher Disease
Genetic Studies of Lysosomal Storage Disorders
The purpose of this study is to identify genetic, biochemical, and clinical factors that are associated with disease severity in people with Gaucher disease and other lysosomal storage disorders.
- Conditions
- Lysosomal Storage Disorders, Gaucher Disease, Parkinson Disease
- Trial name
- NCT00001215
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)