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Glycogen Storage Disease Type II clinical trials

View clinical trials related to Glycogen Storage Disease Type II.

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NCT ID: NCT05073783 Completed - Pompe Disease Clinical Trials

A Study to Assess the Safety of Myozyme® and of Aldurazyme® in Male and Female Participants of Any Age Group With Pompe Disease or With Mucopolysaccharidosis Type I (MPS I) in a Home-care Setting

HomERT
Start date: October 14, 2021
Phase:
Study type: Observational

Primary objective: To obtain data pertaining to the safety and tolerability of alglucosidase alfa and laronidase treatments administered in a home-care infusion setting. Secondary objectives: - To evaluate personal satisfaction of both cohorts of patients treated in a home-care infusion setting. - To evaluate the infusion compliance in both cohorts of patients treated in a home-care infusion setting.

NCT ID: NCT04907162 Completed - Healthy Clinical Trials

Musculoskeletal Nociceptive Pain in Participants With Neuromuscular Disorders

Start date: April 15, 2021
Phase:
Study type: Observational

The primary aim is to characterize the prevalence, severity and quality of musculoskeletal nociceptive pain in adult patients with neuromuscular disorders (NMD). The secondary objectives are to evaluate whether severity and distribution of muscle pain is associated with muscle function, and to assess whether muscle pain is associated with alterations of muscle elasticity and muscle stiffness. Results of patients with neuromuscular disorders will be compared to age- and gender-matched healthy volunteers. Approx. 70 patients with neuromuscular disorders and 20 healthy volunteers will be enrolled, including patients with the following neuromuscular disorders: histologically confirmed inclusion body myositis (IBM), genetically confirmed late-onset Pompe disease (LOPD), genetically confirmed spinal muscular atrophy type 3 (SMA3), genetically confirmed facio-scapulo-humeral muscle dystrophy (FSHD), genetically confirmed myotonic dystrophy type 1 or type 2 (DM1, DM2). The duration of patient recruitment will be around 12 months.

NCT ID: NCT04724213 Completed - Pompe Disease Clinical Trials

Development of an Assessment Tool for Health-related Quality of Life in Children and Adolescents With Pompe Disease

Pompe_HrQol
Start date: July 1, 2021
Phase: N/A
Study type: Interventional

Health related quality of life (HrQoL), is "the patient's subjective perception of the impact of his disease and its treatment on his daily life, physical, psychological and social functioning and well-being" and thus constitutes a patient reported outcome (PRO) of utmost importance. Generic HrQoL instruments can by definition not capture disease-specific parameters nor are they sensitive enough to detect their changes. In this study, a disease-specific HrQoL questionnaire for children and adolescents will be developed. Patients and parents will be involved in focus groups and interviews to identify relevant contents. The instrument will be tested for validity and reliability.

NCT ID: NCT04120168 Completed - Clinical trials for Duchenne Muscular Dystrophy

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

VICTORIA
Start date: April 1, 2019
Phase:
Study type: Observational [Patient Registry]

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.

NCT ID: NCT03893240 Completed - Pompe Disease Clinical Trials

Neutralizing Antibody Seroprevalence Study With a Retrospective Component in Participants With Late-Onset Pompe Disease

Start date: June 12, 2019
Phase: N/A
Study type: Interventional

The purpose of this study is to obtain information pertaining to the occurrence of antibodies to investigational SPK-3006 capsid and GAA, GAA activity and GAA antigen levels in the usual care setting of Late-Onset Pompe Disease (LOPD) participants on an enzyme replacement regimen. Additionally, a careful evaluation of laboratory and functional testing in patients with LOPD may provide information to better understand the disease features and better drive the design of a future interventional investigational gene therapy trial. An understanding of the underlying status of liver and muscle health in individuals with LOPD may also inform best surveillance during the conduct of gene therapy trials.

NCT ID: NCT03729362 Completed - Clinical trials for Pompe Disease (Late-onset)

A Study Comparing ATB200/AT2221 With Alglucosidase Alfa/Placebo in Adult Subjects With Late-onset Pompe Disease

PROPEL
Start date: December 4, 2018
Phase: Phase 3
Study type: Interventional

This is a phase 3 double-blind randomized study to study the efficacy and safety of intravenous ATB200 Co-administered with oral AT2221 in adult subjects with Late Onset Pompe Disease compared with Alglucosidase Alfa/placebo.

NCT ID: NCT03687333 Completed - Clinical trials for Glycogen Storage Disease Type II

Evaluate Efficacy and Safety in Chinese Patients With Infantile-Onset Pompe Disease With One Year Alglucosidase Alfa Treatment

APOLLO-IOPD
Start date: December 4, 2018
Phase: Phase 4
Study type: Interventional

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.

NCT ID: NCT03285126 Completed - Clinical trials for Pompe Disease (Late-onset)

Pompe Gene Therapy- Screening for Eligibility

Start date: November 1, 2017
Phase:
Study type: Observational

The purpose of this study is to determine eligibility for the future clinical trial of gene therapy in adults with late-onset Pompe disease. This screening protocol will enroll up to 20 adults patients (>=18 yo) with late-onset Pompe disease. Study assessments include review of medical history, vital signs, physical examination, muscle function testing, lung function testing, blood and urine collection, serum pregnancy test and ECG. The study results will be collected to perform descriptive statistical analysis and used to determine eligibility for the proposed clinical trial of gene therapy in the future.

NCT ID: NCT03255213 Completed - Clinical trials for Glycogen Storage Disease

Lingual Muscle Training in Late-Onset Pompe Disease (LOPD)

Start date: March 21, 2018
Phase: N/A
Study type: Interventional

This study is being done to test the effects of Lingual Muscle Therapy (LMT) in patients with Late-Onset Pompe Disease (LOPD) who have tongue weakness. The results of this study will help design future research studies about LMT in LOPD.

NCT ID: NCT03147664 Completed - Clinical trials for Enzyme Replacement Therapy in Pompe Disease

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

Start date: January 1, 2014
Phase: N/A
Study type: Observational

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).