Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months (STIG-Pompe-Study)

Study Overview
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Brief Summary
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Long-term outcome in late-onset Pompe disease treated beyond 36 months (ATBIG-Pompe-Study), a multicenter, multinational, longitudinal, non-interventional observational study in subjects, at least 8 years old, diagnosed with late-onset Pompe disease retrospectively and prospectively collects data to understand clinical progression in terms of muscle and respiratory function, and clinical symptomology treated with alglucosidase alfa more than 36 months in 100 subjects.

Detailed Description
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The presentation and course of late-onset Pompe disease is much less foreseeable than the classic infantile form. Some patients experience a rapid worsening in skeletal muscle function leading to loss of ambulation and respiratory failure, while others progress less rapidly. So there is a more inconstant response to treatment in skeletal muscle and lung function in the long-term. Therefore, an unmet clinical need is the collection and analysis of long-term data of rhGAA enzyme replacement therapy (ERT) in late-onset Pompe disease patient aged 8 years and older. The principal goal of our investigator driven study is to gain conclusive insight in long-term outcome data beyond 36 months up to 10 years of ERT treatment. In addition we will collect biological samples from all patients for a future biomarker study including gene modifier search by genome and RNA seq (not part of this proposal). This study may provide clinicians and researchers with a better understanding of late-onset Pompe disease under long-term treatment, to the benefit of all patients affected with late-onset Pompe disease, as well as, individuals and families with related diseases.

Official Title
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Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months

Conditions
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Pompe Disease

Intervention / Treatment
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* Drug: glucosidase alfa


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Late-onset Pompe patients, aged over 8 years. The patient is willing and able to provide signed informed consent. The patient (and patient's legal guardian if patient is under 18 years of age) must have the ability to comply with the clinical protocol. Long-term Myozyme treatment beyond 36 months. Known GAA genotype. GAA activity (Dried blood spot testing, or other methods). Exclusion Criteria: - The patient is concurrently participating in another clinical study using Myozyme or other treatment. The patient, in the opinion of the Investigator, is unable to adhere to the requirements of the study. The patient has clinically significant organic disease (with the exception of symptoms relating to Pompe disease), including clinically significant cardiovascular, hepatic, pulmonary, neurologic, or renal disease, or other medical condition, serious intercurrent illness, or extenuating circumstance that, in the opinion of the Investigator, precludes participation in the study or potentially decreases survival.

Ages Eligible for Study
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Minimum Age: 8 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Drug: glucosidase alfa|Long-term use in an observational study of licenced drug|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| change in muscle function | To evaluate the degree of change in muscle function over time in patients with Pompe disease. % change in the 6-minute walking test (normal 600m in six minutes) between 0, 6 and 12 months of the study | 12 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| data collection on survival, death and reason of deaths | data collection on survival, death and reason of deaths during the full study period | 12 months | 
| changes in forced vital capacity (FVC) | To evaluate the degree of change in lung function over time in patients with Pompe disease by % change of FVC in sitting and supine body position between 0, 6, and 12 months of the study | 12 months | 
| changes in minimal inspiratory pressure (MIP) | To evaluate the degree of change in lung function over time in patients with Pompe disease: % change in minimal inspiratory pressure between 0, 6 and 12months of the study | 12 months | 
| changes in maximal expiratory pressure (MEP) | To evaluate the degree of change in lung function over time in patients with Pompe disease % change in maximal expiratory pressure between 0, 6 and 12months of the study | 12 months | 
| changes in loss of ambulation | % of patients with loss of ambulation at 12 months of the study | 12 months | 
| changes in Medical Research Council (MRC) Scale for Muscle Strength | % of patients with changes in 5-point MRC (scale data at 12 months of the study | 12 months |