Clinical trials: Glucosylceramide Beta-Glucosidase Deficiency Disease
GM1 Gangliosidosis, GM2 Gangliosidosis
Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2
This study is being conducted to better understand the natural course of GM1 gangliosidosis, GM2 gangliosidoses and Gaucher disease Type 2 (GD2).
- Conditions
- GM1 Gangliosidosis, GM2 Gangliosidosis, Gaucher Disease, Type 2, Tay-Sachs Disease
- Trial name
- RETRIEVE (NCT04470713)
- Where
- 17 sites in United States, Belgium and 8 more
- Volunteers
- 226 people
- Sponsor
- Idorsia Pharmaceuticals Ltd.
Gaucher Disease, Type 1, Gaucher Disease, Type 3
Phase 1/2 Study of CAN103 in Subjects With Gaucher Disease
Gaucher disease is a rare lysosomal storage disorder caused by deficient activity of the enzyme acid β-glucosidase, causing glucosylceramide to accumulate within macrophages and leading to hepatosplenomegaly, anemia…
- Trial name
- NCT05447494
- Testing
- Low-dose CAN103, High-dose CAN103
- Where
- China
- Volunteers
- 40 people
- Sponsor
- CANbridge (Suzhou) Bio-pharma Co., Ltd.
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's Disease
PEG-Glucocerebrosidase for the Treatment of Gaucher Disease
Gaucher disease is a lysosomal storage disease resulting from glucocerebroside accumulation in macrophages due to a genetic deficiency of the enzyme glucocerebrosidase. It may occur in patients of all ages.
- Trial name
- NCT00001410
- Testing
- Lysodase
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- National Institute of Mental Health (NIMH)
Gaucher Disease, Type I, Gaucher Disease, Type III
Gaucherite - A Study to Stratify Gaucher Disease
The purpose of this research is to review data already collected and to collect new data from adults and children in England with Gaucher Disease to determine clinical factors which predict severity and response to therapy of…
- Trial name
- Gaucherite (NCT03240653)
- Testing
- Stratified response to Enzyme Therapy
- Where
- 8 sites in United Kingdom
- Volunteers
- 250 people
- Sponsor
- Cambridge University Hospitals NHS Foundation Trust
Type 2 Gaucher Disease
Convection-Enhanced Delivery of Glucocerebrosidase to Treat Type 2 Gaucher Disease
This study will use an experimental method of delivering the enzyme glucocerebrosidase directly into the brain of a patient with Gaucher disease to treat disease symptoms.
- Trial name
- NCT00244582
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Gaucher Disease, Gaucher Disease Type 1
Study of Velaglucerase Beta ERT in Children With Gaucher Disease
This is a Phase 3, multicenter, open-label, single-arm study to evaluate the safety, efficacy, PK, PD, and immunogenicity of velaglucerase beta in untreated children with GD1 or GD3 for 39 weeks.
- Conditions
- Gaucher Disease, Gaucher Disease Type 1, Gaucher Disease Type 3
- Trial name
- NCT07847411
- Testing
- Velaglucerase beta
- Where
- China
- Volunteers
- 10 people
- Sponsor
- CANbridge Life Sciences Ltd.
Gaucher Disease Type 3
A Phase I/II Clinical Study to Evaluate the Safety and Efficacy of VGN-R08b in Patients With Type III Gaucher's Disease
A phase I/II clinical study to evaluate the tolerance, safety and efficacy of VGN-R08b intracerebroventricular injection in patients with type III Gaucher's disease
- Trial name
- NCT07603050
- Testing
- VGN-R08b
- Volunteers
- 12 people
- Sponsor
- Shanghai Vitalgen BioPharma Co., Ltd.
Gaucher Disease
Efficacy and Safety of Eliglustat in Chinese Pediatric Patients With Gaucher Disease Type 1 and Type 3
Primary Objective: Evaluate the efficacy and safety of eliglustat in Chinese pediatric patients (≥12 to <18 years old) with Gaucher disease type 1 and type 3.
- Trial name
- NCT06523517
- Testing
- Eliglustat Tartrate Capsules
- Where
- China
- Volunteers
- 5 people
- Sponsor
- Peking Union Medical College Hospital
Alpha-Thalassemia, Beta-Thalassemia
FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases
FLOWER is a completely virtual, nationwide, real-world observational study to collect, annotate, standardize, and report clinical data for rare diseases.
- Conditions
- Alpha-Thalassemia, Beta-Thalassemia, Amyloidosis, Amyotrophic Lateral Sclerosis
- Trial name
- NCT06539169
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- xCures
Gaucher Disease
A Study to Evaluate and Characterize the Effect of Pharmacological Chemicals on Blood From Patients With Gaucher Disease
Gaucher disease is a lysosomal storage disorder resulting from a deficiency in the key enzyme b-glucocerebrosidase (GCase). This enzyme is responsible for breaking down a specialized type of fat molecule, known as…
- Trial name
- NCT00465062
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Gaucher Disease, Type 3
Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease
Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Gaucher disease has been classified into 3 clinical subtypes based on the presence or absence of neurological…
- Trial name
- NCT01685216
- Testing
- velaglucerase alfa
- Where
- 5 sites in Egypt, India and 1 more
- Volunteers
- 7 people
- Sponsor
- Shire
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 3
A Multicenter, Safety and Efficacy Study of Taliglucerase Alfa in Subjects With Type 3 Gaucher Disease
This is a multicenter study to assess the safety and efficacy of taliglucerase alfa (60 units/kg) in previously untreated subjects of any age with Type 3 GD.
- Trial name
- NCT04002830
- Testing
- Elelyso
- Where
- 3 sites in India, Israel and 1 more
- Volunteers
- 14 people
- Sponsor
- Ari Zimran
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
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