Clinical trials: Storage Disease
Adult Polyglucosan Body Disease, Glycogen Brancher Enzyme Deficiency
Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease
The purpose of the study is to determine if triheptanoin is an effective treatment for the symptoms of Adult Polyglucosan Body Disease.
- Conditions
- Adult Polyglucosan Body Disease, Glycogen Brancher Enzyme Deficiency, Glycogen Storage Disease Type IV
- Trial name
- NCT00947960
- Testing
- Triheptanoin, Vegetable Oil
- Where
- France
- Volunteers
- 23 people
- Sponsor
- Baylor Research Institute
ESRD
Fabry Disease Screening in ESRD Patients in West of France
Screening of Fabry disease in end-stage renal disease (ESRD) patients on dialysis or transplant in west of France.
- Trial name
- SNOUFY (NCT02719249)
- Testing
- Dried blood spot test
- Where
- France
- Volunteers
- 500 people
- Sponsor
- Rennes University Hospital
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.
Healthcare Quality Indicators, Inappropriate Prescribing
Development and Validation of Automated Indicators on the Appropriateness of Oral Anticoagulant Prescriptions
This research focuses on the development and validation of indicators on the appropriateness of oral anticoagulant prescriptions.
- Conditions
- Healthcare Quality Indicators, Inappropriate Prescribing, Anticoagulant Drugs, Atrial Fibrillation
- Trial name
- PACHA (NCT02898090)
- Where
- 4 sites in France
- Volunteers
- 1,213 people
- Sponsor
- University Hospital, Bordeaux
Gaucher Disease
Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase
This is a multi-center, open-label, switchover trial to assess the safety of taliglucerase alfa in 30 patients with Gaucher disease who are currently being treated with imiglucerase (Cerezyme®) enzyme replacement therapy.
- Trial name
- NCT00712348
- Testing
- Taliglucerase alfa
- Where
- 10 sites in United States, Australia and 4 more
- Volunteers
- 31 people
- Sponsor
- Pfizer
Pompe Disease, Glycogen Storage Disease Type II (GSD II)
Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease
The primary objective of this study was to characterize the pharmacokinetics (PK) of alglucosidase alfa manufactured at the 4000 L scale in participants who had a confirmed diagnosis of Pompe disease.
- Trial name
- PAPAYA (NCT01410890)
- Testing
- alglucosidase alfa
- Where
- 12 sites in United States, Bulgaria and 4 more
- Volunteers
- 21 people
- Sponsor
- Genzyme, a Sanofi Company
Trauma, Hemorrhage
Transfusion Using Stored Whole Blood
Massive hemorrhage is a major cause of potentially preventable death following trauma. A common consequence of hemorrhagic shock is uncontrollable bleeding from coagulopathy, leading to death from exsanguination.
- Conditions
- Trauma, Hemorrhage, Coagulopathy
- Trial name
- NCT02926274
- Where
- United States
- Volunteers
- 330 people
- Sponsor
- University of California, Los Angeles
Gallbladder Cancer, Cholangiocarcinoma
Storage of Bile From Routine Procedures to Study Risk Factors
The purpose of the study is to establish a repository of human bile as a resource for studies evaluating molecular predictors of biliary cancer risk.
- Conditions
- Gallbladder Cancer, Cholangiocarcinoma, Biliary Tract Cancer
- Trial name
- NCT00414843
- Where
- United States
- Volunteers
- 390 people
- Sponsor
- Indiana University
Fabry Disease, Cardiac Variant, Right Ventricular Hypertrophy
Myocardial Affectation in Patients With Fabry Disease Without Phenotypic Manifestation. Diagnostic Value of Biomarkers
The cardiac variant of the Fabry disease is a rare cardiomyopathy affecting 1/50000 individuals in general population. It is generally diagnosed in advanced stages of the disease, because it presents clinical features very…
- Trial name
- FAMY (NCT01442350)
- Volunteers
- 120 people
- Sponsor
- Francisco Marín Ortuño
Fabry Disease
Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients.
Fabry disease is a recessively inherited disorder due to systemic storage of abnormal metabolites (ceramide trihexocide, in particular) caused by lack of the lysosomal enzyme α-galactosidase.
- Trial name
- NCT01997489
- Testing
- Enzyme replacement
- Where
- 2 sites in Denmark
- Volunteers
- 39 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Fabry Disease
A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms
The purpose of this study was to determine whether 2 alternative dosing regimens of Fabrazyme (Agalsidase beta) (1.0 mg/kg every 4 weeks or 0.5 mg/kg every 2 weeks) were effective in treatment-naïve pediatric participants without…
- Trial name
- FIELD (NCT00701415)
- Testing
- Agalsidase beta
- Where
- 12 sites in United States, Argentina and 7 more
- Volunteers
- 31 people
- Sponsor
- Genzyme, a Sanofi Company
McArdle Disease
Modified Ketogenic Diet in Patients With McArdle Disease Part B
McArdle disease, glycogen storage disease type V, is a rare metabolic disease. Affected individuals are unable to utilize sugar stored as glycogen in muscle.
- Trial name
- NCT04044508
- Testing
- Ketocal 4:1 liquid Nutricia (intervention)
- Where
- 2 sites in Denmark, United Kingdom
- Volunteers
- 20 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Pompe Disease
Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices
The incidence of type II glycogen-storage disease (Pompe disease) varies depending on ethnicity and geographic region. As of 2010, nine studies have been published documenting the incidence of Pompe disease.
- Trial name
- IPANEMA (NCT02838368)
- Where
- United States
- Volunteers
- 921 people
- Sponsor
- University of California, Irvine
Mucopolysaccharidosis I
Safety and Dose Ranging Study of Human Insulin Receptor MAb-IDUA Fusion Protein in Adults and Children With MPS I
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
- NCT03053089
- Testing
- AGT-181
- Where
- Brazil
- Volunteers
- 21 people
- Sponsor
- ArmaGen, Inc
Liver Fibrosis
Non-invasive Assessment of Liver Fibrosis in a French Cohort of Pediatric Patients With Type III Glycogen Storage Disease: Current State and Perspectives
Patients with type III glycogen storage disease (GSDIII) can develop liver fibrosis, which can be complicated by liver failure or even hepatocellular carcinoma.
- Trial name
- HEPAGLY (NCT07303140)
- Where
- France
- Volunteers
- 30 people
- Sponsor
- University Hospital, Strasbourg, France
Krabbe Disease
Biomarker for Krabbe Disease (BioKrabbe)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Krabbe Disease from blood
- Trial name
- BIOKRABBE (NCT01425489)
- Where
- 5 sites in Egypt, Germany and 2 more
- Sponsor
- CENTOGENE GmbH Rostock
Niemann-Pick Disease, Type C
Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine
Background: Niemann-Pick disease type C (NPC) is a genetic disorder that results in progressive loss of nervous system function by affecting the membranes of nerve cells. There is no known cure for NPC.
- Trial name
- NCT00975689
- Testing
- N-Acetyl Cysteine
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Niemann-Pick Disease, Type C
Study of IV VTS-270 for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C
Niemann-Pick disease, type C (NPC) is a lethal, autosomal recessive, lysosomal storage disorder characterized by neurodegeneration in early childhood and death in adolescence.
- Trial name
- NCT03471143
- Testing
- VTS-270
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Washington University School of Medicine
Pompe Disease
Drug-drug Interaction Study
This study evaluates drug-drug interactions between AT2220 (duvoglustat) and recombinant human alpha-glucosidase (rhGAA, also known as alglucosidase alfa) in participants with Pompe Disease.
- Trial name
- NCT01380743
- Testing
- duvoglustat, rhGAA
- Where
- 15 sites in United States, Canada and 2 more
- Volunteers
- 25 people
- Sponsor
- Amicus Therapeutics
Sanfilippo Syndrome Type B
Natural History Study of Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B)
The purpose of this study is to evaluate the natural course of disease progression in Mucopolysaccharidosis Type III (MPS IIIB) patients who are untreated to identify potential surrogate endpoints that may be utilized in future…
- Trial name
- NCT01509768
- Where
- 4 sites in United States, Germany and 1 more
- Volunteers
- 19 people
- Sponsor
- Shire
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