Clinical trials: Glucosylceramide Beta-Glucosidase Deficiency Disease
Gaucher Disease
Survey Study for Velaglucerase Alfa (VPRIV) in Japan
The objective of this post-marketing survey study is to collect data to determine the safety and efficacy of velaglucerase alfa (VPRIV) in participants with Gaucher disease who are new to therapy or have been switched from…
- Trial name
- NCT03625882
- Where
- 35 sites in Japan
- Volunteers
- 63 people
- Sponsor
- Takeda
Gaucher's Disease
Effects of Enzyme Replacement in Gaucher's Disease
Gaucher disease is a lysosomal storage disease resulting from glycocerebroside accumulation in macrophages due to a genetic deficiency of the enzyme glucocerebrosidase.
- Trial name
- NCT00001289
- Where
- United States
- Volunteers
- 70 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
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
Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes
Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC
This is a data collection study that will examine the general diagnostic and treatment data associated with the reduced-intensity chemotherapy-based regimen paired with simple alemtuzumab dosing strata designed to prevented graft…
- Conditions
- Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias
- Trial name
- PRO-RIC (NCT04528355)
- Testing
- data collection
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Paul Szabolcs
Gaucher Disease Type 1
A Clinical Study Evaluating LY-M001 Injection in the Treatment of Adult Patients With Type I Gaucher Disease
Gaucher disease (GD) is caused by mutations in the GBA1 gene, which leads to a lack or reduction of GCase activity. The consequences of this deficiency are generally attributed to the accumulation of the GCase substrate…
- Trial name
- GD (NCT06818838)
- Testing
- LY-M001
- Where
- 3 sites in China
- Volunteers
- 12 people
- Sponsor
- Lingyi Biotech Co., Ltd.
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
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 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
Post Marketing Surveillance (PMS) Study for Velaglucerase Alfa (VPRIV) in India
The main aim of this study is to measure the safety and to find out the effects of VPRIV in participants with Gaucher disease using both retrospective and prospective data when used in the post-marketing setting and to collect…
- Trial name
- NCT04429984
- Where
- 2 sites in India
- Volunteers
- 21 people
- Sponsor
- Shire
Gaucher Disease, HCV
Chronic Hepatitis C Treatment in Egyptian Children With Gaucher Disease.
This prospective open label study is designed to screen all available Gaucher disease patients [either on enzyme replacement therapy (ERT) or not] for hepatitis C virus (HCV) infection.
- Trial name
- NCT03721627
- Testing
- Ledipasvir/Sofosbuvir
- Where
- Egypt
- Volunteers
- 10 people
- Sponsor
- Mansoura University Children Hospital
Gaucher Disease, Type 1, MRI
Retrospective and Prospective Observational Study of MRI Changes in Bone and Visceral Lesions of Patients With Type 1 Gaucher Disease Treated With VPRIV® (Velaglucerase Alfa)
This study with standardized reading MRIs, will provide for the first time objective and quantified data on organomegaly (liver and spleen volumes) as well as bone alteration (Bone Marrow Burden11) of French patients treated with…
- Trial name
- EIROS (NCT03333447)
- Testing
- MRI
- Where
- France
- Volunteers
- 20 people
- Sponsor
- CEN Biotech
Mucopolysaccharidosis I, Mucopolysaccharidosis II
Registry of Patients Diagnosed With Lysosomal Storage Diseases
This is an international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of…
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI
- Trial name
- LSD Registry (NCT05619900)
- Testing
- There is no intervention
- Where
- United States
- Volunteers
- 250 people
- Sponsor
- University of California, San Francisco
Parkinson Disease, Gaucher Disease
Drug Discovery for Parkinson's With Mutations in the GBA Gene
The New York Stem Cell Foundation (NYSCF) Research Institute is performing this research to accelerate Parkinson's disease research and drug development by using cells from the body (such as skin or blood cells) to make stem…
- Conditions
- Parkinson Disease, Gaucher Disease, Healthy, GBA Gene Mutation
- Trial name
- NCT05536388
- Testing
- Biological Sample Collection
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- New York Stem Cell Foundation Research Institute
Patients With Gaucher's Disease
Macrophagic Activation and Immunophenotypic Profile of Patients With Gaucher's Disease
The aim of this study is to evaluate macrophaging activity and immunologic profile of patients with Gaucher 's disease. For this, one blood sampling will be performed.
- Trial name
- Gaucher (NCT01206673)
- Testing
- Blood sampling
- Where
- 2 sites in France
- Volunteers
- 10 people
- Sponsor
- Nantes University Hospital
Type 1 Gaucher Disease
Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher Disease
In August of 2014, the FDA approved ELELYSO for long-term enzyme replacement therapy (ERT) for pediatric subjects with a confirmed diagnosis of Type 1 Gaucher disease.
- Trial name
- NCT03021941
- Testing
- Elelyso 60 units/kg
- Where
- United States
- Sponsor
- Pfizer
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
Long Term Follow-Up for Safety of AVR-RD-02
The goal of this observational study is to assess the safety and tolerability of AVR-RD-02 treatment in subjects who previously received AVR-RD-02 treatment (single dose administration).
- Trial name
- NCT06488261
- Testing
- AVR-RD-02
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- John Bernat
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
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
Gaucher Disease
An Open-Label, Dose Escalation Study to Evaluate the Safety and the Pharmacokinetics of Oral PRX-112
This is an open-label, dose escalation study to evaluate the safety of oral PRX-112 and pharmacokinetics of GCD in subjects with Gaucher disease naive to enzyme replacement therapy.
- Trial name
- NCT02107846
- Testing
- PRX-112
- Where
- Israel
- Volunteers
- 10 people
- Sponsor
- Protalix