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Active clinical trials for "Glycogen Storage Disease Type II"

Results 91-100 of 138

Immune Modulation Therapy for Pompe Disease

Pompe Disease

The purpose of this study is to assess anti-recombinant human acid α-glucosidase (anti-rhGAA) antibody titers after treatment with immune modulation therapy in patients of Pompe disease.

Unknown status10 enrollment criteria

Pompe Prevalence Study in Patients With Muscle Weakness Without Diagnosis

Pompe's Disease

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. This strategy is currently used in the usual practice. The aim is evaluate the prevalence of the Pompe disease among patients with progressive limb girdle muscular weakness and/or axial deficiency, and/or respiratory insufficiency. The diagnosis will be confirmed using DBS.

Completed10 enrollment criteria

A Study to Evaluate the Effects of Pharmacological Chaperones in Cells From Patients With Pompe...

Pompe DiseaseGlycogen Storage Disease Type II

The purpose of this study is to see how molecules called pharmacological chaperones affect the cells of patients with Pompe disease. The study will last 1 or 2 visits which will include a blood collection, urine collection, and two skin biopsies. Information will also be collected from the medical records about disease history and diagnosis. Patients will not receive any study medication.

Completed5 enrollment criteria

Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease

Pompe DiseaseGlycogen Storage Disease Type II (GSD II)

The primary objective of this study was to characterize the pharmacokinetics (PK) of alglucosidase alfa manufactured at the 4000 L scale in participants who had a confirmed diagnosis of Pompe disease. A secondary objective of this study was to evaluate and explore the relationship between anti-recombinant human acid alpha-glucosidase antibody titers and the PK of alglucosidase alfa.

Completed10 enrollment criteria

Response to Diaphragmatic Pacing in Subjects With Pompe Disease

Pompe Disease

The purpose of this study is to determine the effect of diaphragm pacing on respiratory function in subjects with Pompe disease by evaluating the duration and pattern of spontaneous respiratory function versus paced ventilation respiratory function in patients with Pompe disease who have received the NeuDx Diaphragm pacer (DPS).

Completed5 enrollment criteria

Pregnancy and Birth Outcome in Women With Pompe Disease

Pompe Disease

This study explores the outcome and effect of pregnancy on Pompe Disease. The results are expected to guide clinicians in counseling and care of women with Pompe disease, who are planning to become pregnant, and during the pregnancy.

Completed5 enrollment criteria

Study Determining the Frequency of Duchenne Muscular Dystrophy and Late-onset Pompe Disease

Duchenne Muscular DystrophyPompe Disease (Late-onset)

This is a multicenter prospective non-drug screening study. The working period is 12 months. There is no research product to be followed or used in the study. Demographic data, medical and family histories of the patients included in the study will be collected at the first admission. The following laboratory values of the patients will be collected: Alanine Transaminase (ALT) Aspartate Transaminase (AST) Gamma Glutamyl Transferase (GGT) Creatine Phosphokinase (CPK) In addition, physical examination information and Abdominal USG and Liver Biopsy Results, if any, will be collected. Following the above scans, enzyme analysis for late-onset Pompe disease in boys and girls and adolescents with high CPK levels and molecular genetic tests for Duchenne muscular dystrophy in boys and adolescents with high CPK levels will be performed.

Completed12 enrollment criteria

Pompe Disease QMUS and EIM

Pompe Disease

Study Objectives: Determine the correlation between quantitative muscle ultrasound (QMUS), electrical impedance myography (EIM) and currently accepted measures of physical function. Determine the reliability of EIM measures performed in the home through use of a hand held device. Determine if QMUS and EIM can detect pre-clinical changes in Pompe disease.

Completed3 enrollment criteria

Cardiopulmonary Exercise Test to Quantify Enzyme Replacement Response in Pediatric Pompe Disease...

Enzyme Replacement Therapy in Pompe Disease

Introduction: Enzyme replacement therapy (ERT) with Myozyme improved the prospect of Pompe disease patients. Our aim was to evaluate ERT acute effect on exercise capacity in pediatric Pompe patients. Methods: Pompe patients (10-19 years) were evaluated before and two days after ERT using cardiopulmonary exercise testing (CPET), six minutes walking test (6MWT) and motor function test (GMFM-88).

Completed7 enrollment criteria

Observational Study for Subjects With Pompe Disease Undergoing Immune Modulation Therapies

Pompe Disease

Hypothesis: the effectiveness of treatment of Pompe Disease with rhGAA enzyme replacement therapy (ERT) is limited at least in part because patients develop antibodies against the provided rhGAA enzyme. Treatment with immunomodulatory drugs may dampen or eliminate the anti-rhGAA immune response in patients receiving ERT, thereby allowing for greater ERT efficacy. Studying the immune response to rhGAA may provide valuable insight into the role of the immune system in the effectiveness of ERT for Pompe Disease.

Completed8 enrollment criteria
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