Clinical trials: Storage Disease
Fabry Disease
Fabry: Renal Function During Long-term ERT by 51Cr-EDTA Clearance
The aim of this study was to investigate renal function decline by measured glomerular filtration rate (mGFR) in patients with FD during enzyme replacement therapy, and to explore the influence of age on renal function in FD.
- Trial name
- NCT02969200
- Testing
- Enzyme replacement therapy
- Where
- Denmark
- Volunteers
- 52 people
- Sponsor
- Ulla Feldt-Rasmussen
Obesity
Healthy In-Store Marketing Study
Using a cluster randomized controlled design, this study will evaluate effects of in-store healthy food marketing strategies on sales and purchase of specific healthier items in six product categories (milk, frozen entrees…
- Trial name
- NCT02499211
- Testing
- Intervention stores
- Where
- United States
- Volunteers
- 33 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Breast Cancer
Collecting and Storing Tissue Samples From Women With or Without Breast Cancer
RATIONALE: Collecting and storing samples of tissue, blood, and urine from patients with or without breast cancer to study in the laboratory may help the study of cancer.
- Trial name
- NCT00899301
- Testing
- biologic sample preservation procedure
- Where
- United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- Vanderbilt-Ingram Cancer Center
Mucopolysaccharidosis IV, Morquio A Disease
Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVa
Mucopolysaccharidosis Type IVa (MPS IVa, Morquio Disease) is a rare inherited lysosomal storage disorder caused by deficiency of the enzyme galactose-6-sulfatase.
- Trial name
- NCT02153255
- Where
- United Kingdom
- Sponsor
- Birmingham Women's and Children's NHS Foundation Trust
Metachromatic Leukodystrophy (MLD)
An Efficacy and Safety Study of HGT-1110 in Participants With Metachromatic Leukodystrophy
The purpose of this study is to collect long-term safety data in participants with metachromatic leukodystrophy (MLD) who are receiving HGT-1110 and have participated in Study HGT-MLD-070 (NCT01510028) through Week 40.
- Trial name
- NCT01887938
- Testing
- HGT-1110
- Where
- 15 sites in Australia, Brazil and 5 more
- Volunteers
- 24 people
- Sponsor
- Shire
Hunter Syndrome
Safety and Efficacy of Hunterase
The objective of this study is to determine the safety and efficacy of once weekly dosing of idursulfase-beta 0.5mg/kg administered by intravenous(IV) infusion for Hunter syndrome patients < 6 years old.
- Trial name
- GC1111 (NCT01645189)
- Testing
- Hunterase
- Where
- South Korea
- Volunteers
- 6 people
- Sponsor
- Green Cross Corporation
Fabry Disease
A Study of Replagal in Children and Adults With Fabry Disease in India
The main aim of this study is to learn more about the safety profile of Replagal. Participants will receive Replagal every 2 weeks at the clinic for about 1 year.
- Trial name
- NCT05067868
- Testing
- Replagal
- Where
- 3 sites in India
- Volunteers
- 5 people
- Sponsor
- Shire
MPS III B, Mucopolysaccharidosis Type IIIB
A Treatment Study of Mucopolysaccharidosis Type IIIB
The study's primary objectives are to evaluate the safety and tolerability of AX 250 administered to subjects with MPS IIIB via an ICV reservoir and catheter and to evaluate the impact of AX 250 on cognitive function in patients…
- Trial name
- MPS IIIB (NCT02754076)
- Testing
- AX 250
- Where
- 7 sites in United States, Colombia and 5 more
- Volunteers
- 23 people
- Sponsor
- Allievex Corporation
Mucopolysaccharidoses, Carotid Disease
Cardiovascular Structure and Function in the Mucopolysaccharidoses
This study's investigators previously demonstrated the potential utility of non-invasive carotid ultrasonography to calculate carotid intima media thickness (cIMT) and stiffness (as measured by the three parameters, carotid…
- Conditions
- Mucopolysaccharidoses, Carotid Disease, Cardiac Disease, Inflammation
- Trial name
- NCT05063435
- Testing
- Carotid ultrasonography, Echocardiography, transthoracic, Venipuncture
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Children's Hospital of Orange County
Mucopolysaccharidosis I, Hurler's Syndrome
Phase 3 Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients
This study is being conducted to collect additional long-term efficacy and safety data of Aldurazyme® (laronidase) patients with MPS I disease.
- Conditions
- Mucopolysaccharidosis I, Hurler's Syndrome, Hurler-Scheie Syndrome, Scheie Syndrome
- Trial name
- NCT00146770
- Testing
- Aldurazyme
- Where
- 25 sites in United States, Brazil and 5 more
- Volunteers
- 45 people
- Sponsor
- Genzyme, a Sanofi Company
Pompe-Disease
ERT in Pompe Disease: Elucidation of Molecular Structures Contributing to Enzyme Uptake and Immunoreactivity
In the first part of this study, the aim is to characterize the molecular structure of wildtype GAA and, in particular, of mutated GAA variants with and without HSAT, in order to learn how mutation impairs uptake of GAA into the…
- Trial name
- NCT05448131
- Where
- Germany
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Centre for Analytical Biochemistry and Biomedical Mass Spectrometry
Mucopolysaccharidosis IH
Gene Therapy With Modified Autologous Hematopoietic Stem Cells for the Treatment of Patients With Mucopolysaccharidosis Type I, Hurler Variant
This is a phase I/II study evaluating safety and efficacy of autologous hematopoietic stem and progenitor cells genetically modified with IDUA lentiviral vector encoding for the human α-L-iduronidase gene for the treatment of…
- Trial name
- TigetT10_MPSIH (NCT03488394)
- Testing
- Frozen autologous CD34+ hematopoietic stem and progenitor cells genetically modified with the lentiviral vector IDUA LVV, encoding for the α-L-iduronidase cDNA, in their final formulation medium.
- Where
- Italy
- Volunteers
- 8 people
- Sponsor
- Orchard Therapeutics
Fabry Disease
Assess Urine Biomarkers to Predict Nephropathy in Fabry Disease
The purpose of this research is to collect biological samples (urine) to develop assays for immune biomarkers to possibly in the future be able to screen subjects with Fabry disease and be able to understand better progression of…
- Trial name
- NCT06065605
- Where
- 2 sites in United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Metabolism, Inborn Errors, Lipid Metabolism, Inborn Errors
Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
This study aims to characterize the pathophysiological mechanisms of 21 different metabolic myopathies. The study will focus on exercise capacity and the metabolic derangement during exercise.
- Conditions
- Metabolism, Inborn Errors, Lipid Metabolism, Inborn Errors, Carbohydrate Metabolism, Inborn Errors, Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
- Trial name
- NCT02635269
- Testing
- Sugar
- Where
- Denmark
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Pompe Disease (Late-onset)
Gene Transfer Study in Patients With Late Onset Pompe Disease
This is a phase 1/2 open-label, ascending dose, multicenter clinical study to evaluate the safety and efficacy of AT845 in adult (aged ≥ 18 years) subjects, ambulatory or nonambulatory, with Late Onset Pompe Disease (LOPD).
- Trial name
- FORTIS (NCT04174105)
- Testing
- zocaglusagene nuzaparvovec
- Where
- 4 sites in United States, United Kingdom
- Volunteers
- 11 people
- Sponsor
- Astellas Gene Therapies
Transplant, Failure, Heart, Heart Transplant
10 Degree C Static Storage in Heart Transplantation
The goal of this clinical trial is to conduct a feasibility investigation evaluating the preliminary safety and effectiveness of using the X°Port Heart Preservation System (XHPS) for 10°C preservation in clinical heart…
- Conditions
- Transplant, Failure, Heart, Heart Transplant, Heart Failure
- Trial name
- NCT07818941
- Testing
- 10 degree C Static Storage Cooler
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- John Trahanas
Inflammatory Bowel Disease, Glycogen Storage Disease Type Ia
Study of the Relationship Between Glycogen Storage Disease Type Ia and Inflammatory Bowel Disease
The purpose of this research study is to understand the relationship between inflammatory bowel disease (IBD) and Glycogen storage disease (GSD)type Ia.
- Trial name
- NCT01854242
- Testing
- Glycogen Storage Disease type Ia patients
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- University of Florida
Mucopolysaccharidosis I
Extension Study Evaluating Long Term Safety and Activity of AGT-181 in 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
- NCT03071341
- Testing
- AGT-181
- Where
- Brazil
- Volunteers
- 19 people
- Sponsor
- ArmaGen, Inc
Fabry Disease
Italian Anderson Fabry Disease Cardiovascular Registry
The RICMAF Study is an observational, multicenter, non-pharmacological study conducted in Italy. Although Anderson-Fabry Disease (AFD) is rare, it is likely underdiagnosed due to its nonspecific symptoms, leading to delays in…
- Trial name
- RICMAF (NCT06806813)
- Where
- 54 sites in Italy
- Volunteers
- 800 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Fabry Disease
Migalastat Food Effect Study
A 5-period crossover study to evaluate the effect of meal type and timing on migalastat HCl pharmacokinetics in healthy male and female subjects.
- Trial name
- NCT01489995
- Testing
- A (migalastat), B (migalastat), C (migalastat)
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Amicus Therapeutics
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