Clinical trials: Storage Disease
Inherited Metabolic Disorders (IMD)
A Follow-up Study in Patients With Inherited Metabolic Disorders (IMD) Who Underwent Hematopoietic Stem Cell Transplantation (HSCT) With MGTA-456
A follow-up study to evaluate the safety and clinical outcomes of patients with inherited metabolic disorders (IMD) who have undergone hematopoietic stem cell transplantation (HSCT) with MGTA-456
- Trial name
- IMD-002 (NCT04008849)
- Testing
- Safety and efficacy assessments
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Magenta Therapeutics, Inc.
Autoimmune Hepatitis, Liver Disorder
Development of a Autoimmune Hepatitis Patient's Database Linked to a Biological Sample Storage
Autoimmune Hepatitis (AIH) is chronic fibroinflammatory disease of the liver characterized by chronic, relapsing liver inflammation, and a risk for progression to liver failure and need for liver transplantation.
- Trial name
- AIH Database (NCT06078098)
- Testing
- Clinical Information
- Where
- Italy
- Volunteers
- 10,000 people
- Sponsor
- University of Milano Bicocca
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.
Mucopolysaccharidosis II
Safety and Dose Ranging Study of Insulin Receptor MoAb-IDS Fusion Protein in Patients With Hunter Syndrome
AGT-182 is a fusion protein containing idursulfase that is intended to deliver the enzyme peripherally and to the brain, when administered intravenously.
- Trial name
- NCT02262338
- Testing
- AGT-182
- Where
- 5 sites in United States, Germany and 1 more
- Volunteers
- 6 people
- Sponsor
- ArmaGen, Inc
Anemia
Age of Blood in Children in Pediatric Intensive Care Units
ABC PICU is a randomized clinical trial that will compare the clinical consequences of RBC storage duration in 1538 critically ill children.
- Trial name
- ABC-PICU (NCT01977547)
- Testing
- Short storage RBC age
- Where
- 37 sites in United States, Canada and 3 more
- Volunteers
- 1,538 people
- Sponsor
- Washington University School of Medicine
Mucopolysaccharidosis I
Extension Study of AGT-181-102 to Evaluate Long Term Safety and Activity of AGT-181
AGT-181 is a fusion protein containing alpha-L-Iduronidase that is intended to deliver the enzyme peripherally and to the brain, when administered intravenously.
- Trial name
- NCT02597114
- Testing
- AGT-181
- Volunteers
- 3 people
- Sponsor
- ArmaGen, Inc
Fabry Disease
Early Detection of Fabry Disease
The main aim of this study is early detection of FD using real-world data for the development of advanced natural language processing methods and to develop a predictive algorithm and to measure the performance of the algorithm…
- Trial name
- NCT05106764
- Testing
- No intervention
- Where
- 3 sites in Germany
- Volunteers
- 50 people
- Sponsor
- Takeda
Glycogen Storage Disease Type V
MRI in McArdle Disease (GSDV)
The aim of this study is to describe the degree of muscle wasting in patients with McArdle disease judged by MRI, quantitative magnetic resonance (DIXON) and T1 weighted images, and muscle strength, collected across multiple…
- Trial name
- NCT03844022
- Testing
- MRI
- Where
- Denmark
- Volunteers
- 87 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
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
Kidney Failure, Chronic, Kidney Transplantation
Drone Transport of Deceased-Donor Kidney Grafts Between Two French Hospitals Before Transplantation: a Pilot Safety Study
Cold ischemia time, the period during which a donated kidney is kept cold outside the body between its removal from the donor and its transplantation into the recipient, is one of the main modifiable factors influencing how…
- Conditions
- Kidney Failure, Chronic, Kidney Transplantation, Delayed Graft Function, Cold Ischemia
- Trial name
- RAfALREIN (NCT07851571)
- Testing
- Kidney graft transport by autonomous unmanned aircraft (drone) between the procurement and transplantation centres
- Volunteers
- 5 people
- Sponsor
- Nantes University Hospital
Cystinosis
European Cystinosis Cohort 2
This European observational cohort follows patients with cystinosis, a rare lysosomal storage disease caused by CTNS mutations leading to cystine accumulation and multisystem involvement.
- Trial name
- RaDiCo-ECYSCO2 (NCT07680751)
- Where
- France
- Volunteers
- 250 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Mucopolysaccharidosis II
Mucopolysaccharidosis Type II Observational
This is an observational study planned to document prospectively disease manifestation and neurocognitive course in pediatric patients with a clinical presentation consistent with neuronopathic ("severe") MPS II undergoing…
- Trial name
- NCT04591834
- Testing
- Observational
- Where
- 3 sites in United States, Canada
- Sponsor
- REGENXBIO Inc.
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
Pompe Disease
Frequency of Pompe's Disease and Neuromuscular Etiologies in Patients With Restrictive Respiratory Failure Associated With Signs of Muscle Weakness
A breach of respiratory function may be one of the elements more or less early or predominant clinical picture of neuromuscular diseases.
- Trial name
- POPS3 (NCT02746718)
- Testing
- Blood sample
- Where
- 21 sites in France
- Volunteers
- 50 people
- Sponsor
- Centre Hospitalier Universitaire de Nice
Transfusional Iron Overload
A Protocol to Allow Treatment With ICL670 for Patients With or at Risk of Life-threatening Complications of Transfusional Iron Overload Who Are Unable to Tolerate Other Iron Chelators Because of Documented Severe Toxicity
The purpose of this open-label, non-comparative, multi-center protocol was to further evaluate safety and to provide treatment with ICL670 to patients who had or were at risk of life threatening complications due to transfusional…
- Trial name
- NCT01044186
- Testing
- ICL670
- Where
- 18 sites in United States, Greece and 1 more
- Volunteers
- 30 people
- Sponsor
- Novartis Pharmaceuticals
Niemann-Pick Disease, Type C
Longitudinal Study of Cognition With Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C (NPC) is a rare neurodegenerative disorder with a wide clinical spectrum and variable age of onset.
- Trial name
- NPC (NCT01899950)
- Where
- United States
- Volunteers
- 70 people
- Sponsor
- Mayo Clinic
Fabry Disease
Podocyturia - Predictor of Renal Dysfunction in Fabry Nephropathy
In patients with Fabry disease, this research study explores the presence of podocytes in their urine as a potential non-invasive biomarker for baseline kidney disease; and explores changes in the quantity of podocytes in their…
- Trial name
- NCT02994303
- Where
- 3 sites in United States
- Volunteers
- 58 people
- Sponsor
- University of Washington
MPS IV A, Mucopolysaccharidosis IVA
A Clinical Assessment Study of Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome)
This multicenter, multinational, longitudinal study will quantify endurance and respiratory function in subjects diagnosed with MPS IVA and will better characterize the spectrum of symptoms and biochemical abnormalities in MPS…
- Conditions
- MPS IV A, Mucopolysaccharidosis IVA, Morquio A Syndrome
- Trial name
- NCT00787995
- Where
- 15 sites in United States, Argentina and 8 more
- Volunteers
- 353 people
- Sponsor
- BioMarin Pharmaceutical
Congenital Myopathy, Neuromuscular Diseases
Changes of Motor Function Tests in Congenital Myopathy Subjects Treated With Oral Salbutamol as Compared to no Treatment
Congenital myopathies (CM) is a large group of muscle disorders, presenting with hypotonia and non-progressive generalised muscle weakness, which can lead to motor developmental delay.More than 20 genes can cause CM and currently…
- Conditions
- Congenital Myopathy, Neuromuscular Diseases, Musculoskeletal Diseases, Nemaline Myopathy
- Trial name
- COMPIS (NCT05099107)
- Testing
- Salbutamol (as Salbutamol Sulfate) 2 Mg Oral Tablet, Salbutamol Only Product in Oral Dose Form
- Where
- Sweden
- Volunteers
- 18 people
- Sponsor
- Vastra Gotaland Region
Acid Sphingomyelinase Deficiency (ASMD), Niemann Pick Disease
National Multicentre Study of the Natural History of Acid Sphingo-myelinase Deficiency in Adults and Children
The goal of this study is to describe the natural history of ASMD in adult and paediatric patients with or without specific treatment in order to assess the impact of the disease on their daily lives and quality of life.
- Trial name
- FASMD (NCT06985212)
- Where
- France
- Volunteers
- 200 people
- Sponsor
- Wladimir MAUHIN, Dr