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Active clinical trials for "Glycogen Storage Disease Type II"

Results 131-138 of 138

Expanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Infantile-onset Pompe Disease...

Glycogen Storage Disease Type IIGlycogenosis 2

Pompe disease (also known as glycogen storage disease Type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA is used by the body's cells to break down glycogen (a stored form of sugar) within specialized structures called lysosomes. In patients with Pompe disease, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. The objective of this protocol is to provide enzyme replacement therapy with rhGAA on an expanded access basis, to severely affected patients with infantile-onset Pompe disease for whom there is no alternative treatment and who do not meet the clinical characteristics described in the inclusion criteria for participation in other Genzyme Corporation-sponsored study currently enrolling patients with infantile-onset Pompe disease.

Approved for marketing7 enrollment criteria

Investigating Lysosomal Storage Diseases in Minority Groups

Lysosomal Storage DisordersGaucher Disease3 more

Although lysosomal storage disorders, such as Fabry disease, Gaucher disease, and Pompe disease, represent serious challenges in the healthcare system, no study has yet investigated the prevalence of these diseases in the US. Frequently, patients show progressive worsening of symptoms for several years before they get diagnosed. Since many of these diseases can be managed therapeutically, it is important to identify and treat patients in order to avoid organ damage. The investigators aim to undertake a screening study that identifies undiagnosed patients with lysosomal storage disorders and determine the prevalence of these diseases with special focus on underrepresented minority groups.

Unknown status5 enrollment criteria

Frequency of Pompe Disease in Patients With Myalgia With or Without Hyper Ckemia - Data From the...

Pompe Disease

Pompe's disease is a lysosomal storage disease of autosomal recessive genetic transmission due to a deficiency in acid alpha glucosidase. This enzyme deficiency leads to glycogen overload in all cells but with a more marked expression in muscle cells. There is a great variability in the clinical manifestations and in the age of onset of symptoms depending on whether the enzyme deficiency is partial or total. The prevalence is estimated at 1 in 40,000. There is a specific treatment based on enzyme replacement therapy

Unknown status11 enrollment criteria

Muscle Response to Enzyme Replacement Therapy in Pompe Disease

Pompe Disease

This study is to study the response of muscle cells from Pompe disease after enzyme replacement therapy

Unknown status3 enrollment criteria

A Long Term Follow up Study in Late-onset Pompe Disease

Pompe Disease

This study is to observe the progression of disease in late-onset Pompe disease

Unknown status3 enrollment criteria

A Natural History Study of Adult Onset Pompe Disease Using Muscle MRI

Pompe Disease

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 which is the natural history of the disease and which is the impact that treatment with recombinant enzyme has in the progression of the disease.

Unknown status5 enrollment criteria

Search for Serum/Plasma Biomarkers in Pompe's Disease

Late Onset Pompe DiseasePompe Disease

This study aims to analyze serum and plasma samples from patients with late onset Pompe disease treated and not treated with enzyme replacement therapy (ERT) to identify microRNA that could be specific of the disease. The investigators will correlate the concentration of these microRNA with several muscle function tests and quantitative muscle MRI to know whether they are good biomarkers of progression.

Unknown status2 enrollment criteria

Screening for Early Detection and Prevention of Pompe Disease in Israel Using Tandem Mass Spectrometry...

Pompe Disease

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.

Unknown status2 enrollment criteria
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