Clinical trials: Gaucher's Disease
Type II Gaucher Disease
An Exploratory Clinical Trial of VGN-R08b in Patients With Type II Gaucher Disease
This exploratory trial is to prove the tolerability and safety of VGN-R08b to treat infants with type II Gaucher disease.
- Trial name
- NCT06272149
- Testing
- VGN-R08b
- Where
- China
- Volunteers
- 6 people
- Sponsor
- Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Gaucher Disease
The Safety and Efficacy Study of ISU302 in Patient With Type I Gaucher Disease
The purpose of this study is to compare and evaluate the efficacy and safety of ISU302, an investigational product, and Cerezyme®, comparator, for Type 1 Gaucher Disease patients
- Trial name
- NCT01161914
- Testing
- Cerezyme®, ISU302
- Sponsor
- ISU Abxis Co., Ltd.
Gaucher Disease
Cellular and Molecular Mechanisms Governing Bone Marrow Stem Cells in Gaucher Disease
Gaucher disease is an inherited autosomal recessive lysosomal storage disorder caused by the defective activity of the glucocerebrosidase, leading to accumulation of glucocerebroside particularly in cells of the macrophage…
- Trial name
- MGMC (NCT01439607)
- Testing
- Bone marrow and blood sampling
- Where
- France
- Volunteers
- 30 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Gaucher Disease, Type 1
Ambroxol Therapy for Patients With Type 1 Gaucher Disease and Suboptimal Response to Enzyme Replacement Therapy
Ambroxol hydrochloride, an over-the-counter antitussive available in many markets , was identified as an interesting pharmacological chaperone.
- Trial name
- NCT03950050
- Testing
- Ambroxol
- Where
- Israel
- Volunteers
- 40 people
- Sponsor
- Shaare Zedek Medical Center
Gaucher Disease, Patient Reported Outcome
Digital Health Platform Customized for Patients With Gaucher Disease
The entry of digitization into the world in recent years is helping the health care system to operate more efficiently than in the past and has increased the participation of patients and their families in managing their health…
- Trial name
- NCT04997772
- Testing
- Digital Gaucher Platform
- Where
- Israel
- Volunteers
- 80 people
- Sponsor
- Shoshana Vilk
Gaucher Disease, Type 1, Gaucher Disease, Type 3
Study of Arimoclomol in Patients Diagnosed With Gaucher Disease Type 1 or 3
Multicenter, doubleblinded, randomized placebo-controlled study of arimoclomol in patients with Gaucher Disease Type 1 or 3
- Trial name
- NCT03746587
- Testing
- Arimoclomol
- Where
- 8 sites in India
- Volunteers
- 39 people
- Sponsor
- ZevraDenmark
Gaucher Disease, Type 1
Assessing the Impact of Elelyso on Bone Involvement Currently Treated With Other ERTs
The objective of this study is to assess Elelyso treatment on bone disease in Gaucher patients currently treated with other enzyme replacement therapy.
- Trial name
- NCT04353466
- Testing
- quantitative chemical shift imaging (QCSI), Elelyso
- Volunteers
- 30 people
- Sponsor
- Shaare Zedek Medical Center
Parkinson Disease, GBA Gene Mutation
The GBA Multimodal Study in Parkinson's Disease
This study plans to analyze the molecular and clinical mechanisms of the relationship between the GBA mutations and Parkinson's disease.
- Conditions
- Parkinson Disease, GBA Gene Mutation, Gaucher Disease
- Trial name
- NCT04101968
- Testing
- PET scan, neuroQWERTY
- Where
- 3 sites in United States, Canada
- Volunteers
- 30 people
- Sponsor
- Pacific Parkinson's Research Centre
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
I Cell Disease, Fucosidosis
Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation
OBJECTIVES: I. Evaluate bronchoalveolar lavage fluid and serum obtained from pediatric patients with storage disorders prior to allogeneic hematopoietic stem cell transplantation (HSCT) for the presence of proinflammatory…
- Conditions
- I Cell Disease, Fucosidosis, Globoid Cell Leukodystrophy, Adrenoleukodystrophy
- Trial name
- NCT00005900
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Fairview University Medical Center
Myelofibrosis, Gaucher Disease
Clinical and Pathophysiological Investigations Into Erdheim Chester Disease
Background: Erdheim Chester Disease (ECD) is a very rare disease in which abnormal white blood cells start growing and affect the bones, kidneys, skin, and brain.
- Conditions
- Myelofibrosis, Gaucher Disease, Pulmonary Fibrosis, Hermansky-Pudlak Syndrome (HPS)
- Trial name
- NCT01417520
- Where
- United States
- Volunteers
- 88 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Gaucher Disease, Type 1
Treatment Protocol of Velaglucerase Alfa for Patients With Type 1 Gaucher Disease
Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Due to the deficiency of functional GCB, glucocerebroside accumulates within macrophages leading to cellular…
- Trial name
- NCT00954460
- Testing
- velaglucerase alfa
- Where
- 32 sites in United States
- Sponsor
- Shire
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.
Gaucher's Disease Type III
Study to Evaluate the Efficacy and Safety of Venglustat in Adult and Pediatric Patients With Gaucher Disease Type 3
This is a parallel arm, Phase 3, double-blind, double-dummy, active-comparator, 2 arm study to evaluate the efficacy and safety of daily oral venglustat versus intravenous Cerezyme infusions every two weeks for improvement or…
- Trial name
- LEAP2MONO (NCT05222906)
- Testing
- Venglustat, imiglucerase
- Where
- 22 sites in United States, Argentina and 9 more
- Volunteers
- 43 people
- Sponsor
- Sanofi
Mucopolysaccharidosis I, Mucopolysaccharidosis VI
Human Placental-Derived Stem Cell Transplantation
The purpose of this clinical trial is to investigate the safety of human placental-derived stem cells (HPDSC) given in conjunction with umbilical cord blood (UCB) stem cells in patients with various malignant or nonmalignant…
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis VI, Adrenoleukodystrophy, Niemann-Pick Disease
- Trial name
- HPDSC (NCT01586455)
- Testing
- Human Placental Derived Stem Cell
- Where
- 3 sites in United States
- Volunteers
- 43 people
- Sponsor
- New York Medical College
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
Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease
Gaucher disease is an inherited deficiency of the lysosomal enzyme glucocerebrosidase (GCB) that leads to progressive accumulation of glucocerebroside within macrophages and subsequent tissue and organ damage; typically of the…
- Trial name
- NCT01614574
- Testing
- velaglucerase alfa
- Where
- 3 sites in Japan
- Volunteers
- 6 people
- Sponsor
- Shire
Gaucher Disease Type 1
Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1)
The purpose of this study is to measure levels of blood and brain chemicals related to oxidative stress and inflammation in healthy volunteers and individuals with Type 1 Gaucher disease (GD1) to see if these levels are altered…
- Trial name
- NCT02583672
- Testing
- N-acetylcysteine
- Where
- 2 sites in United States
- Volunteers
- 33 people, healthy volunteers welcome
- Sponsor
- University of Minnesota
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
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.