Clinical trials: Glycogen Storage Disease
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
Pompe Disease
A Natural History Study of Adult Onset Pompe Disease Using Muscle MRI
This project is an observational prospective study in which patients affected by an adult onset Pompe disease will be followed-up during three years using different clinical, analytical and radiological tests in order to know…
- Trial name
- POMPE 2013 (NCT01914536)
- Where
- Spain
- Volunteers
- 30 people
- Sponsor
- Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Pompe Disease
Newborn Screening Assay of Pompe's Disease
The purpose of this study is to test the feasibility of a newborn screen assay for Pompe disease
- Trial name
- NCT01758354
- Testing
- Pompe disease newborn screening
- Where
- Taiwan
- Volunteers
- 236,536 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Neuromuscular Disorders
Prospective Follow-up of Patients With Glycogen Storage Disease Type III
The aim of this study is to improve knowledge of natural history and methods of monitoring the evolution of Glycogen storage disease type III regarding the muscle and to study the prospective approach of large series of patients…
- Trial name
- PRO GSDIII (NCT01563705)
- Testing
- Different motor function tests, Manual dexterity assessment
- Where
- France
- Volunteers
- 30 people
- Sponsor
- Institut de Myologie, France
Pompe's Disease
Pompe Prevalence Study in Patients With Muscle Weakness Without Diagnosis
An international consensual group recommends confirming the diagnosis of the Pompe disease after a dried blood spot (DBS) with a dosage of the enzymatic activity in other tissue.
- Trial name
- POPS (NCT00830583)
- Testing
- blood test
- Where
- France
- Volunteers
- 400 people
- Sponsor
- Centre Hospitalier Universitaire de Nice
Pompe Disease
Detection of Pompe Disease in Adult Patients With Myopathies of Uncertain Origin or With Asymptomatic Hyper-CK-emia
The adult onset form can occur between the second and sixth decades of life as a form of proximal myopathy, predominantly in the pelvic girdle area.
- Trial name
- NCT01482494
- Where
- Spain
- Volunteers
- 50 people
- Sponsor
- Jordi Perez Lopez
Pompe Disease
Screening for Early Detection and Prevention of Pompe Disease in Israel Using Tandem Mass Spectrometry
The aim of the study is: to develop a comprehensive biochemical assay for detection of Pompe disease (glycogen storage disease type II), to be implemented in the Newborn screening program among the Israeli population.
- Trial name
- LC-MS-MS (NCT01409486)
- Testing
- Drawing blood spots from Newborns
- Where
- Israel
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Rambam Health Care Campus
Macular Degeneration
Scotoma Reduction in AMD Patients Treated With Ranibizumab
This is a trial aimed at patients with advanced wet macular degeneration and macular scarring treated wiht intravitreal injections of Lucentis.
- Trial name
- SALVAGE (NCT00467935)
- Testing
- intravitreal injection Lucentis (ranibizumab)
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Retina Research Foundation
Muscular Dystrophies
The Efficacy of Using Far Infrared Radiation to Manage Muscular Dystrophies
The muscular dystrophies (MD) are a group of more than 30 neuromuscular disorders that are characterized by progressive skeletal muscle weakness, defects in muscle proteins and the death of muscle cells and tissue.
- Trial name
- NCT00674843
- Testing
- Far Infrared Radiation
- Where
- Canada
- Volunteers
- 4 people
- Sponsor
- GAAD Medical Research Institute Inc.
Pompe Disease, Glycogen Storage Disease Type II
A Study to Evaluate the Effects of Pharmacological Chaperones in Cells From Patients With Pompe Disease
The purpose of this study is to see how molecules called pharmacological chaperones affect the cells of patients with Pompe disease.
- Trial name
- NCT00515398
- Testing
- Observation
- Where
- 4 sites in United States
- Volunteers
- 30 people
- Sponsor
- Amicus Therapeutics
Dermatomyositis, Glycogen Storage Disease Type II
Genetic and Family Studies of Inherited Muscle Diseases
The purposes of this study are to identify gene mutations in patients with the muscle diseases phosphofructokinase (PFK) deficiency, acid maltase deficiency (GAA deficiency) and to learn more about how these diseases develop.
- Conditions
- Dermatomyositis, Glycogen Storage Disease Type II, Glycogen Storage Disease Type VII, Myositis
- Trial name
- NCT00001331
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Glycogen Storage Disease
Study of Glycogen Storage Disease and Associated Disorders
Glycogen, is the storage form of glucose. It is usually formed from sugar and stored in the liver. When tissues, such as muscle, need glucose for fuel the stored glycogen is converted into glucose with the help of enzymes…
- Trial name
- NCT00001342
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)