Clinical trials: Carbohydrate Metabolism
Normal Middle Ears., Otitis Media Ears.
Observation of Gas Exchange in the Middle Ear
Observation of fluid behavior over a perforated eardrum. A comparison of the behavior of the gas in normal vs. different kinds of otitis media ears.
- Trial name
- NCT00794105
- Where
- Israel
- Sponsor
- Shaare Zedek Medical Center
MPS IIIB (Sanfilippo B Syndrome)
Evaluation of Blood Brain Barrier Integrity and Structural Abnormalities in MPS IIIB Patients Using Multimodal Magnetic Resonance Imaging
The purpose of the study is to characterize structural abnormalities in the brain and the integrity of the blood brain barrier in patients with mucopolysaccharidosis type IIIB (MPS IIIB).
- Trial name
- NCT02090179
- Where
- United Kingdom
- Volunteers
- 5 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Alpha-Mannosidosis
Trial on Safety and Efficacy of Velmanase Alfa Treatment in Pediatric Patients With Alpha-Mannosidosis
The main objectives of the study are to evaluate safety and efficacy of repeated treatment with recombinant human alfa-mannosidase of patients with alfa-mannosidosis aged less than 6 years
- Trial name
- rhLaman-08 (NCT02998879)
- Testing
- Velmanase Alfa (e.g. Lamazym)
- Where
- 6 sites in Austria, Denmark and 3 more
- Volunteers
- 5 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Mucopolysaccharidosis, Fabry Disease
Non-invasive Assessment of Intraocular Pressure in MPS by Use of the Ocular Response Analyzer.
The aim of the present study is to compare intraocular pressure (IOP) values assessed with Ocular Response Analyzer to the classical gold standard of IOP measurement, to Goldmann applanation tonometry by mucopolysacchyridosis…
- Trial name
- MPSORA (NCT01695161)
- Where
- Germany
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Johannes Gutenberg University Mainz
Mucolipidosis Type IV
The Natural History and Pathogenesis of Mucolipidosis Type IV
Mucolipidosis Type IV (ML-IV) is a metabolic disorder that causes mental and motor retardation as well as visual impairment. There is storage of material in practically all the cells of the body, causing problems in the brain and…
- Trial name
- NCT00015782
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Glycogen Storage Disease Type I, Glucose 6 Phosphatase Deficiency
Safety, Efficacy Evaluation of Empagliflozin Administration for Neutropenia in Glycogenosis Type 1b and G6PC3 Deficiency
Treatment of neutropenia of G6PC3 and Glycogenosis type 1b patients with empagliflozin
- Trial name
- GLYCO-1B (NCT04138251)
- Testing
- Empagliflozin
- Where
- Belgium
- Volunteers
- 5 people
- Sponsor
- Cliniques universitaires Saint-Luc- Université Catholique de Louvain
Mucopolysaccharidosis
The Effect of Enzyme Replacement Therapy in Mucopolysaccharidosis
Mucopolysaccharidosis (MPS) causes chronic, progressive systemic disorders due to enzyme deficiency. Musculoskeletal manifestations of MPS include bone and vertebral deformities, restricted joint function and ROM (range of…
- Trial name
- NCT05006222
- Testing
- Enzyme Replacement Agent
- Where
- Turkey (Türkiye)
- Volunteers
- 12 people
- Sponsor
- Hasan Kalyoncu University
Fibrodysplasia Ossificans Progressiva (FOP)
A Non-Interventional Study of Clinical Characteristics and Mortality of US Patients With Fibrodysplasia Ossificans Progressiva (FOP)
Primary Objective(s): To describe the demographic characteristics of people living with FOP and a matched cohort of non-FOP people living in the United States (U.S.) To describe the prevalence of clinical characteristics of…
- Trial name
- NCT06064656
- Testing
- Non-Interventional
- Where
- United States
- Volunteers
- 131 people
- Sponsor
- Regeneron Pharmaceuticals
Pompe Disease
A Long Term Follow up Study in Late-onset Pompe Disease
This study is to observe the progression of disease in late-onset Pompe disease
- Trial name
- NCT00713245
- Where
- Taiwan
- Volunteers
- 70 people
- Sponsor
- National Taiwan University Hospital
Diabetes, Diabetes Mellitus, Type 1
A Survey on Low Blod Sugar Among Insulin-treated Patients With Diabetes
This study is conducted globally. The aim of this study is to describe the proportion of patients with hypoglycaemic episodes and estimate the incidence of various types of hypoglycaemia in the retrospective and prospective…
- Conditions
- Diabetes, Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 2
- Trial name
- NCT02306681
- Testing
- No treatment given
- Where
- 8 sites in Bangladesh, Colombia and 6 more
- Volunteers
- 7,315 people
- Sponsor
- Novo Nordisk A/S
Heart Defects, Congenital, Hyperglycemia
SPECS: Safe Pediatric Euglycemia in Cardiac Surgery
Critically ill children, including children undergoing heart surgery, commonly develop elevated blood glucose (also known as "blood sugar") levels during their illness, which can lead to poor health outcomes and an increased risk…
- Trial name
- SPECS (NCT00443599)
- Testing
- Insulin, Usual Care
- Where
- 2 sites in United States
- Volunteers
- 989 people
- Sponsor
- Boston Children's Hospital
Self Care
Evaluation of the Eversense Continuous Glucose Monitoring System in Type I Diabetic Youth
The purpose of this clinical investigation is to provide pilot clinical data to direct pivotal study development for the pediatric indication of the Senseonics Continuous Glucose Monitoring System (CGM) measurements when compared…
- Trial name
- FNH (NCT03815552)
- Testing
- Eversense Continuous Glucose Monitoring
- Where
- Germany
- Volunteers
- 15 people
- Sponsor
- Kinderkrankenhaus auf der Bult
Myopathy, Neuropathy
Identification of Tongue Involvement in Late-Onset Pompe Disease
This purpose of this study is to determine if tongue strength and tongue ultrasound measurements differentiates patients with untreated late-onset Pompe Disease (LOPD) from patients with acquires/hereditary myopathies or…
- Conditions
- Myopathy, Neuropathy, Glycogen Storage Disease Type II (Late-onset Pompe Disease)
- Trial name
- NCT02765828
- Testing
- Observational study
- Where
- United States
- Volunteers
- 73 people
- Sponsor
- Duke University
Pompe Disease
Expanded Access for ATB200/AT2221 for the Treatment of Pompe Disease
This is an expanded access program (EAP) for eligible participants designed to provide access to ATB200/AT2221.
- Trial name
- NCT03865836
- Testing
- ATB200, AT2221
- Sponsor
- Amicus Therapeutics
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
Morquio Syndrome A, Maroteaux Lamy Syndrome
Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome A and Maroteaux-Lamy Syndrome
The purpose of this study is to identify patients with Morquio syndrome type A (MPS IVA) and Maroteaux-Lamy syndrome (MPS VI) who may have been missed or misdiagnosed due to atypical clinical features, a milder course, and/or…
- Conditions
- Morquio Syndrome A, Maroteaux Lamy Syndrome, MPS IVA, MPS VI
- Trial name
- NCT01961518
- Where
- United States
- Volunteers
- 17 people
- Sponsor
- Greenwood Genetic Center
Mucopolysaccharidoses, Progressive Pseudorheumatoid Dysplasia
Pediatric Arthropathy Beyond Inflammation: Clinical Spectrum and Diagnostic Approach at Assiut University Children Hospital
To identify the most common underlying causes of non-inflammatory arthropathy in children presenting to Assiut University Children Hospital for through clinical evaluation, laboratory testing, and imaging, in order to improve…
- Conditions
- Mucopolysaccharidoses, Progressive Pseudorheumatoid Dysplasia, Farber Disease, Osteogenesis Imperfecta
- Trial name
- NCT07173010
- Volunteers
- 35 people
- Sponsor
- Assiut University
Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis
Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases
The purpose of this study is to determine a safe dose of BPX-501 gene modified T cells infused after a haplo-identical stem cell transplant to facilitate engraftment and the safety of Rimiducid (AP1903) on day 7 to prevent GVHD.
- Conditions
- Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis, Inherited Bone Marrow Failure Syndrome, Hemoglobinopathies
- Trial name
- NCT02231710
- Testing
- BPX-501 and Rimiducid
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Bellicum Pharmaceuticals
Glycogen Storage Disease Type I
The Use of Uncooked Sweet Manioc Starch to Treat Hepatic Glycogen Storage Diseases
Hepatic Glycogen Storage Diseases are a group of 10 serious genetic diseases that present in childhood and are characterized more frequently by the occurrence of repetitive hypoglycemia and dyslipidemia.
- Trial name
- NCT03871673
- Testing
- Sweet manioc starch, Cornstarch
- Where
- Brazil
- Volunteers
- 11 people
- Sponsor
- Hospital de Clinicas de Porto Alegre
Hyperoxaluria, Primary
An Extension Study to Evaluate the Long-term Efficacy and Safety of Oxabact in Patients With Primary Hyperoxaluria
Open label extension study of Oxabact OC5 in patients with primary hyperoxaluria
- Trial name
- ePHex-OLE (NCT03938272)
- Testing
- Oxabact OC5 - Oxalobacter formigenes Strain HC-1
- Where
- 8 sites in United States, Belgium and 4 more
- Volunteers
- 22 people
- Sponsor
- OxThera