Clinical trials: Gaucher Disease
Gaucher Disease, Type III
Eliglustat on Gaucher Disease Type IIIB
Evaluation of the safety in the combination usage of Cerdelga and Cerezyme in type III Gaucher disease patients and the efficacy on soft tissue diseases.
- Trial name
- NCT03519646
- Testing
- Eliglustat
- Where
- Taiwan
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Gaucher Disease Type 1
Immune Biomarkers Related to Bone Pathology in Patients With Type 1 Gaucher Disease
Bone-related problems represent the principal unmet medical need in Gaucher disease (GD). 75% of GD type 1 patients develop skeletal complications, including bone remodeling defects, osteopenia, osteoporosis, marrow infiltration…
- Trial name
- NCT04055831
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
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)
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
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.
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)
Gaucher Disease, Bone Diseases
Biomarkers Related to Bone in Pediatric Gaucher Disease
Aims of the observational study is to establish novel blood-based biomarkers for grading bone disease in pediatric patients with Gaucher disease (GD).
- Trial name
- NCT06116071
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
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
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
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
Fabry Disease, Gaucher Disease
Complement Activation in the Lysosomal Storage Disorders
The lysosomal storage disorders (LSDs) are monogenic disorders associated with inflammation affecting multiple organs, and early death.
- Conditions
- Fabry Disease, Gaucher Disease, Niemann-Pick Disease, Type C, Lysosomal Storage Diseases
- Trial name
- CATALYST (NCT04189601)
- Testing
- Complement measurements
- Where
- Australia
- Volunteers
- healthy volunteers welcome
- Sponsor
- Melbourne Health
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
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