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

Study Overview
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Brief Summary
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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.

Detailed Description
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Study aim: The principal objective of the study is to find biomarkers that quantify the natural progression of the disease and to know if they are useful to determine the improvement or lack of impairment of the disease in response to Enzyme Replacement Therapy (ERT). Study design: A single center observational prospective study. Patients: Patients with adult onset POMPE disease (onset of symptoms after two years old) and molecular diagnosis confirming the disease are eligible Methods: Clinical information will be obtained according to a pre-defined protocol including six visits: screening visit, baseline, 6 month, 12 month, 24 month and 36 month. In each visit we will perform the following tests: clinical assessment (including interview with patients, quality of live questionnaires, timed tests and assessment of muscle balance using a myometer), analytical tests (blood and urine tests), cardiac test (Electrocardiogram (ECG) and cardiac echography), respiratory assessment (using spirometer) and skeletal muscle imaging (Muscle MRI). All data collect will be introduced in a database and afterwards statistically analyzed. Expected results: We expect to find a biomarker useful to follow-up the progression of Pompe disease. This biomarker has to be sensitive to the changes that muscle function may have after treatment with ERT. Funding: This project is funded by Genzyme, a Sanofi company

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

Conditions
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Pompe Disease

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Pompe disease confirmed using genetic study Onset of symptoms more than 2 years old To be able to come to the hospital and follow all the visits Patients with respiratory involvement are welcomed Exclusion Criteria: Patients unable to perform a MRI (respiratory problems can be solved using mechanical ventilation)

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

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Pompe patients<br>Adult onset pompe patients being or not treated with enzyme therapy replacement | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Changes in muscle atrophy using muscle MRI in patients with adult onset Pompe disease | To know the natural progression of the disease regarding muscle atrophy measured using muscle MRI during a period of three years. | baseline, 6 months, one year, two years and three years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Muscle strength | To study progression of muscle weakness using manual and informatic devices as myometry. We will compare clinical progression with Muscle MRI results. | baseline, 6 months, one year, two years and three years | 
| Micro RNA study | We will obtain blood samples of all the patients to study the microRNA profile and different time points | baseline, 6 months, one year, two years and three years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Glycogenosis type II, POMPE, Acid maltase deficiency