Clinical trials: Gaucher Disease
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
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
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
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
Home Therapy With VPRIV in Gaucher's Disease
The purpose of this study is to proof increasing patient satisfaction and preservation of quality of life in patients with Gaucher's Disease receiving their enzyme replacement therapy with VPRIV (Velaglucerase alfa)at their home…
- Trial name
- NCT01356537
- Where
- 11 sites in Austria, Germany
- Volunteers
- 34 people
- Sponsor
- Shire
Non Malignant Disorders, Immunodeficiencies
Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders
The primary objective is to determine the feasibility of attaining acceptable rates of donor cell engraftment (>25% donor chimerism at 180 days) following reduced intensity conditioning (RIC) regimens in pediatric patients < 21…
- Conditions
- Non Malignant Disorders, Immunodeficiencies, Congenital Marrow Failures, Hemoglobinopathies
- Trial name
- NCT00744692
- Testing
- Unrelated Umbilical Cord Blood Transplant, Reduced Intensity Conditioning
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- Duke University
Gaucher Disease
A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease
A protocol to extend the assessment of the safety and efficacy of taliglucerase alfa in pediatric subjects (2 to <18 years old) with symptoms and clinical manifestations of Gaucher disease who completed treatment in Protocols…
- Trial name
- NCT01411228
- Testing
- Taliglucerase alfa
- Where
- 3 sites in Israel, Paraguay and 1 more
- Volunteers
- 15 people
- Sponsor
- Pfizer
Gaucher Disease
Assessment of Neurological Manifestations in Gaucher Disease Patients
The current work aims to detect the frequency and types of neurological disorders in patient diagnosed as Gaucher disease in Assiut University Children's Hospital
- Trial name
- NCT05816993
- Volunteers
- 45 people
- Sponsor
- Assiut University
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 Disease
Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency
High-risk screening for Gaucher disease and Acid Sphingomyelinase Deficiency in patients with splenomegaly and/or thrombocytopenia in Taiwan
- Trial name
- NCT06258577
- Where
- Taiwan
- Volunteers
- 50 people
- Sponsor
- Chung-Hsing Wang
Gaucher Disease, Type 1
A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease
Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Due to this deficiency of functional GCB, glucocerebroside accumulates within macrophages leading to cellular…
- Trial name
- NCT00430625
- Testing
- VPRIV ®,
- Where
- 5 sites in Argentina, Israel and 3 more
- Volunteers
- 25 people
- Sponsor
- Shire
Gaucher Disease
Gaucher Disease Outcome Survey (GOS)
The Gaucher Outcomes Survey (GOS) is an ongoing observational, international, multi-center, long-term Registry of Patients with Gaucher Disease irrespective of their treatment status or type of treatment received.
- Trial name
- NCT03291223
- Where
- United States
- Volunteers
- 1,257 people
- Sponsor
- Shire
Adrenoleukodystrophy, Metachromatic Leukodystrophy
Stem Cell Transplant for Inborn Errors of Metabolism
The purpose of this study is to determine the safety and engraftment of donor hematopoietic cells using this conditioning regimen in patients undergoing a hematopoietic (blood forming) cell transplant for an inherited metabolic…
- Conditions
- Adrenoleukodystrophy, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy, Gaucher's Disease
- Trial name
- NCT00176904
- Testing
- Stem Cell Transplant, Busulfan, Cyclophosphamide, Antithymocyte Globulin
- Where
- United States
- Volunteers
- 135 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
MLD, Krabbe Disease
Longitudinal Study of Neurodegenerative Disorders
The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the…
- Conditions
- MLD, Krabbe Disease, ALD, MPS I
- Trial name
- NCT03333200
- Testing
- Palliative Care, Hematopoetic Stem Cell Transplantation
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- University of Pittsburgh
Gaucher Disease, Splenomegaly
A National Study in Patients With Unexplained Splenomegaly
Primary Objective: To estimate the prevalence of Gaucher disease and of other etiologies, in patients of 15 years old or more presenting with unexplained splenomegaly after exclusion of first intention-diagnoses (e.g.
- Trial name
- SMS (NCT04430881)
- Where
- France
- Volunteers
- 506 people
- Sponsor
- Sanofi
Gaucher Disease
Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase
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
- NCT00478647
- Testing
- GA-GCB (velaglucerase alfa)
- Where
- 15 sites in United States, Israel and 3 more
- Volunteers
- 40 people
- Sponsor
- Shire
Niemann-Pick Disease Type C, GM2 Gangliosidosis
Long-Term Safety and Tolerability of Nizubaglustat in Participants With Rare Lysosomal Disorders
This is an open-label extension trial to evaluate the long-term safety and tolerability of nizubaglustat (AZ-3102) in participants with rare lysosomal disorders who have participated in a previous nizubaglustat trial and wish to…
- Conditions
- Niemann-Pick Disease Type C, GM2 Gangliosidosis, GM1 Gangliosidosis, Gaucher Disease Type 3
- Trial name
- HARBOR (NCT07885917)
- Testing
- AZ-3102
- Volunteers
- 218 people
- Sponsor
- Azafaros B.V.