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Active clinical trials for "Glycogen Storage Disease"

Results 51-60 of 96

Extension Study of Long-term Safety and Efficacy of Myozyme in Patients With Pompe Disease Who Were...

Pompe Disease Infantile-OnsetGlycogen Storage Disease Type II

This extension study was to monitor the long-term safety and efficacy of rhGAA treatment in patients with infantile-onset Pompe disease who were previously treated with rhGAA derived from the Synpac cell line

Completed4 enrollment criteria

Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease

Adult Polyglucosan Body DiseaseGlycogen Brancher Enzyme Deficiency1 more

The purpose of the study is to determine if triheptanoin is an effective treatment for the symptoms of Adult Polyglucosan Body Disease.

Completed7 enrollment criteria

Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile...

Pompe DiseaseGlycogen Storage Disease Type II2 more

Pompe disease 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 infants with severe cases of Pompe disease (called Classical Infantile Pompe disease), an excessive amount of glycogen accumulates and is stored in various tissues, especially heart, skeletal muscle, and liver, which prevents their normal function. This study being conducted to evaluate the safety and effectiveness of recombinant human acid alpha-glucosidase (rhGAA) as a potential enzyme replacement therapy for Pompe disease. Patients diagnosed with Classical Infantile Pompe disease who have a small, but inactive, amount of natural GAA enzyme present in their bodies (called Cross-Reacting Immunologic Material-Positive or "CRIM (+)" patients), will be studied.

Completed11 enrollment criteria

Evaluate Efficacy and Safety in Chinese Patients With Infantile-Onset Pompe Disease With One Year...

Glycogen Storage Disease Type II

Primary Objective: To evaluate effect of 52-week treatment with Alglucosidase Alfa in the extension of survival and improvement of cardiomyopathy measured by Left Ventricular Mass Index in Chinese patients with infantile-onset Pompe Disease. Secondary Objectives: To observe the improvement of physical growth, motor and cognitive development of 52-week treatment with Alglucosidase Alfa in infantile-onset Pompe Disease from the baseline. To observe the efficacy on survival free of invasive ventilation, use of any ventilation support of 52- week treatment with Alglucosidase Alfa in Chinese patients with infantile-onset Pompe Disease. To evaluate the safety and tolerability of Alglucosidase Alfa in Chinese patients with infantile-onset Pompe Disease.

Completed13 enrollment criteria

McArdle Disease Treatment by Ketogenic Diet

Glycogen Storage Disease

McArdle's disease or Glycogen storage disease type 5 (GSD5), the most common muscle glycogenosis, is a rare disabling condition with no effective treatment. There are indications that a special dietary regimen could positively influence the disease manifestations. After contradictory indications for protein rich vs carbohydrate rich diets, several preliminary studies and more and more patients own experiences are now pointing to a low carbohydrate ketogenic diet (LCKD) as possibly effective in improving exercise tolerance and reducing muscle damage. The investigators propose a multicentre randomized single blind controlled trial testing efficacy of an individualized LCKD in GSD5. The investigators will test the ability of a 6 months dietary regimen with a 3:1 LCKD inducing a BOHB blood concentration of 1.5-4 mmol/l to improve the aerobic capacity as measured by peak VO2 at exercise testing in GSD5 patients. Thirty molecularly defined MCA adults will be enrolled: to half of them randomly selected the dietary regimen will be prescribed, while subjects in the control group will follow their usual balanced diet. The evaluators will be blinded to the diet followed by the examined patient

Completed3 enrollment criteria

Late-Onset Treatment Study Extension Protocol

Pompe Disease (Late-Onset)Glycogen Storage Disease Type II (GSD-II)2 more

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 extension study is to assess the long-term safety and efficacy of alglucosidase alfa treatment in patients with Late-Onset Pompe Disease who were previously treated under the placebo-controlled, double-blind study AGLU02704 (NCT00158600).

Completed5 enrollment criteria

Safety and Effectiveness Study of rhGAA in Patients With Advanced Late-Onset Pompe Disease Receiving...

Pompe Disease (Late-onset)Glycogen Storage Disease Type II (GSD-II)2 more

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 overall objective is to evaluate the safety and efficacy of rhGAA in patients with advanced Late-onset Pompe disease.

Completed9 enrollment criteria

rhGAA in Patients With Infantile-onset Glycogen Storage Disease-II (Pompe Disease)

Glycogen Storage Disease Type IIPompe Disease2 more

Glycogen Storage Disease Type II ("GSD-II"; also known as Pompe disease) 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 GSD-II, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. This study is being conducted to evaluate the safety and effectiveness of recombinant human acid alpha-glucosidase (rhGAA) as a potential enzyme replacement therapy for GSD-II. Patients diagnosed with infantile-onset GSD-II who are greater than 6 months old, but less than or equal to 36 months old will be studied.

Completed9 enrollment criteria

Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With...

Pompe Disease (Late-Onset)Glycogen Storage Disease Type II (GSD II)1 more

This is an open-label, multicenter study of participants with late-onset Pompe disease naive to treatment with enzyme replacement therapy (ERT). The primary objective of this study is to evaluate glycogen clearance in muscle tissue samples collected pre and post alglucosidase alfa treatment in participants with Late-Onset Pompe disease. The secondary objectives are to characterize the disease burden in participants with late-onset Pompe disease and explore imaging, histologic, and functional assessments in these participants and to explore potential plasma or urine biomarkers relative to late-onset Pompe disease and participant's response to treatment with alglucosidase alfa (Myozyme®/Lumizyme®/GZ419829).

Completed10 enrollment criteria

Pompe Lactation Sub-Registry

Glycogen Storage DiseasePompe Disease

The objective is to determine if alglucosidase alfa is present in breast milk from mothers with Pompe Disease being treated with alglucosidase alfa and to measure breast milk production and composition in women with Pompe Disease who receive alglucosidase alfa.

Active5 enrollment criteria
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