Clinical trials: Storage Disease
Gaucher Disease
Clinical Audit of Managment of Gausher Disease in Children
clinical audit on managment of gausher disease in children
- Trial name
- NCT03590548
- Testing
- gausher disease
- Volunteers
- 1 people
- Sponsor
- Yasmeen Abd Elbaset Hamzaa
Nephropathic Cyctinosis, Corneal Cystine Crystals
Efficacy of Topical Cysteamine in Nephropathic Cyctinosis
The aim of this study is to evaluate the efficacy of topical cysteamine eye drops in the treatment of corneal cystine crystals deposits in patients with nephropathic cystinosis.
- Trial name
- NCT02766855
- Testing
- Cysteamine
- Volunteers
- 26 people
- Sponsor
- The Eye Center and The Eye Foundation for Research in Ophthalmology
Mucopolysaccharidosis VI, Maroteaux-Lamy Syndrome
A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VI
The purpose of the study is to evaluate the safety and efficacy of two dose levels of Naglazyme in infants under the age of one year who have MPS VI by monitoring physical appearance, x-ray of the skeletal system and growth.
- Trial name
- NCT00299000
- Testing
- Naglazyme
- Where
- 4 sites in United States, France and 1 more
- Volunteers
- 4 people
- Sponsor
- BioMarin Pharmaceutical
Food Selection
Evaluating the Effectiveness of Within Versus Across-Category Front-of-Package Lower-Calorie Labelling on Food Demand
The important role that diet plays in health and disease is well established, as is its association with rising rates of obesity-a phenomenon of increasing concern in Singapore.
- Trial name
- NCT04165447
- Testing
- Front-of-pack labeling strategy
- Where
- Singapore
- Volunteers
- 146 people, healthy volunteers welcome
- Sponsor
- Duke-NUS Graduate Medical School
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
Fabry Disease, Alpha Galactosidase A Deficiency
Study of the Effects of Fabrazyme Treatment on Lactation and Infants
The study was planned for up to 2 years (24 months). Planned full participation for both mother and infant was 24 months, planned full participation of mother and development of infant was 24 months, while planned full…
- Trial name
- NCT00230607
- Testing
- agalsidase beta
- Where
- 5 sites in United States, Austria and 1 more
- Volunteers
- 7 people
- Sponsor
- Genzyme, a Sanofi Company
Fabry Disease
A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease
People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the a-galactosidase A enzyme.
- Trial name
- NCT00074971
- Testing
- Fabrazyme (agalsidase beta)
- Where
- 20 sites in United States, France and 3 more
- Volunteers
- 58 people
- Sponsor
- Genzyme, a Sanofi Company
Hurler Syndrome, Inherited Metabolic Disorder
BPX-501 T Cells Infused Post Stem Cell Transplant in Pediatrics With Non-Malignant Disorders Ineligible for BPU004 Study
Providing access of BPX-501 gene modified T cells and rimiducid to pediatric patients who do not meet the eligibility criteria of the BP-U-004 study.
- Conditions
- Hurler Syndrome, Inherited Metabolic Disorder, Lysosomal Storage Disorder, Metachromatic Leukodystrophy
- Trial name
- NCT03639844
- Testing
- rivogenlecleucel, rimiducid
- Where
- 2 sites in United States
- Sponsor
- Bellicum Pharmaceuticals
McArdle Disease
Modified Ketogenic Diet in Patients With McArdle Disease Part A
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
- NCT03843606
- Testing
- Modified ketogenic diets
- Where
- Denmark
- Volunteers
- 11 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Poisoning
Understanding How Medication is Stored in the Home
The goal of this study is to increase safe medication storage practices in homes with young children in order to prevent unintentional childhood poisonings.
- Trial name
- NCT03894306
- Testing
- Medication lock box, medication lock bag, brief counseling
- Sponsor
- NYU Langone Health
Metabolic Dysfunction-associated Steatotic Liver Disease (MASLD), Liver Fibrosis/NASH
Stimulating Fat Tissue Storage With Niacin to Reduce Fat Accumulation in the Liver.
Metabolic dysfunction-associated steatotic liver disease (MASLD) (aka non-alcoholic fatty liver disease), commonly occurring in individuals with obesity and type 2 diabetes can lead to liver inflammation/ fibrosis.
- Conditions
- Metabolic Dysfunction-associated Steatotic Liver Disease (MASLD), Liver Fibrosis/NASH, Non-Alcoholic Steato-Hepatitis (NASH)
- Trial name
- AGL13 (NCT06843148)
- Testing
- Niacin (250mg)
- Where
- Canada
- Volunteers
- 36 people
- Sponsor
- Université de Sherbrooke
Glycogen Storage Disease
Clinical Evaluation of a Non-Invasive Hypoglycemia Detector in a Glycogen Storage Disease Population
Glycogen storage disease (GSD) patients frequently experience periods of hypoglycemia, putting them at risk for several complications, such as hepatomegaly, adenomas, and cirrhosis.
- Trial name
- NCT02338817
- Testing
- Diabetes Sentry
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- University of Florida
Pompe Disease
A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe Disease
The objective of this study was to evaluate the efficacy and safety of treatment with 4000 litre (L) alglucosidase alfa (Lumizyme®) in Pompe participants.
- Trial name
- NCT01526785
- Testing
- Alglucosidase alfa
- Where
- 51 sites in United States
- Volunteers
- 113 people
- Sponsor
- Genzyme, a Sanofi Company
Iron Deficiency
Donor Iron Deficiency Study - Red Blood Cells From Iron-deficient Donors: Recovery and Storage Quality
Primary Hypothesis The 24-hour post-transfusion RBC recovery of units obtained from donors exhibiting iron-deficient erythropoiesis will not meet FDA standards for clinical use.
- Trial name
- DIDS (NCT02889133)
- Testing
- Iron-dextran, Saline, Blood Donation
- Where
- United States
- Volunteers
- 79 people, healthy volunteers welcome
- Sponsor
- Columbia University
Fabry Disease, Lysosomal Storage Diseases
A Fabry Disease Gene Therapy Study
This is a multinational, open-label study to assess the safety and efficacy of FLT190 in up to 15 adult male participants with classical Fabry disease.
- Trial name
- MARVEL1 (NCT04040049)
- Testing
- FLT190
- Where
- 13 sites in United States, Austria and 5 more
- Volunteers
- 3 people
- Sponsor
- Spur Therapeutics
Lysosomal Acid Lipase Deficiency, Cholesterol Ester Storage Disease
Lysosomal Acid Lipase (LAL) Deficiency Registry
This is an observational, multi-center, international disease registry designed to collect longitudinal data and create a knowledge base that will be utilized to improve the care and treatment of patients with LAL Deficiency.
- Conditions
- Lysosomal Acid Lipase Deficiency, Cholesterol Ester Storage Disease, Wolman Disease, Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
- Trial name
- ALX-LALD-501 (NCT01633489)
- Where
- 104 sites in United States, Australia and 20 more
- Volunteers
- 300 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Inclusion Body Myositis, Myotonic Dystrophy 1
The Use of Assistive Gait Devices Can Reduce the Risk of Falls in Patients With Neuromuscular Diseases Following a Training Period.
The planned project is an intervention study to assess the risk of falling after adaptation of an assistive gait devices in patients with the following neuromuscular diseases: Inclusion body myositis, myotonic dystrophy, limb…
- Conditions
- Inclusion Body Myositis, Myotonic Dystrophy 1, Myotonic Dystrophy 2, Facio-Scapulo-Humeral Dystrophy
- Trial name
- Risk of fall (NCT07072676)
- Testing
- Assistive gait devices combined with physiotherapy
- Where
- Germany
- Volunteers
- 30 people
- Sponsor
- LMU Klinikum
Mucopolysaccharidosis, Hurler Syndrome
Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders
Rationale: Chemotherapy administration before a donor stem cell transplant is necessary to stop the patient's immune system from rejecting the donor's stem cells.
- Conditions
- Mucopolysaccharidosis, Hurler Syndrome, Hunter Syndrome, Maroteaux-Lamy Syndrome
- Trial name
- NCT01043640
- Testing
- Campath-1H, Cyclophosphamide, Busulfan
- Where
- United States
- Volunteers
- 46 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Glycogen Storage Disease Type IB
Prospective Cohort Study of Children With GSD1b Receiving Empagliflozin
This is a prospective cohort study of children with GSD1b to evaluate their outcome after using empagliflozin for neutrophil defects.
- Trial name
- NCT04986735
- Testing
- Empagliflozin
- Where
- Hong Kong
- Volunteers
- 11 people
- Sponsor
- Hong Kong Children's Hospital
Mucopolysaccharidoses, Mucopolysaccharidosis I
Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics
This study is being done to learn how many children and young adults who come to pediatric rheumatology clinics may have mucopolysaccharidosis (MPS). The study tests for 4 of the types of MPS: I, II, IVA, and VI.
- Conditions
- Mucopolysaccharidoses, Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV
- Trial name
- NCT01675674
- Testing
- Dried blood spot test for MPS
- Where
- 2 sites in United States
- Volunteers
- 3,000 people
- Sponsor
- National MPS Society
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