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| ID | Type | Description | Link |
|---|---|---|---|
| GZ-2015-11342 | Other Identifier | Genzyme |
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| Name | Class |
|---|---|
| Genzyme, a Sanofi Company | INDUSTRY |
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This study aims to analyze serum and plasma samples from patients with late onset Pompe disease treated and not treated with enzyme replacement therapy (ERT) to identify microRNA that could be specific of the disease. The investigators will correlate the concentration of these microRNA with several muscle function tests and quantitative muscle MRI to know whether they are good biomarkers of progression.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Treated patients | Patients with late onset Pompe disease treated with the enzyme replacement therapy |
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| Non treated patients | Patients with late onset Pompe disease non treated with the enzyme replacement therapy |
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Enzyme Replacement Agent | Drug | Patients will be treated following the decision of their doctors. The investigators are going to analyze serum samples of these patients |
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| Measure | Description | Time Frame |
|---|---|---|
| MicroRNA in serum samples | Investigators are going to study microRNA following a microarray analysis of serum samples from patients treated and non treated | Baseline |
| Measure | Description | Time Frame |
|---|---|---|
| Muscle function test | 6 minutes walking test (6MWT), time to climb 4 steps, time to descend 4 steps, Activlim, time to walk 10 meter, Medical Research Council scale (MRC), myometry | Baseline and one year |
| Whole body muscle MRI |
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Inclusion Criteria:
Exclusion Criteria:
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Late onset Pompe patiens
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Eduard Gallardo, PhD | Contact | 9355657682 | egallardo@santpau.cat | |
| Jordi Díaz Manera, MD PhD | Contact | 935565986 | jdiazm@santpau.cat |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hospital de la Santa Creu i Sant Pau | Barcelona | Barcelona | 08025 | Spain |
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| ID | Term |
|---|---|
| D006009 | Glycogen Storage Disease Type II |
| D006008 | Glycogen Storage Disease |
| ID | Term |
|---|---|
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
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| ID | Term |
|---|---|
| C509951 | GAA protein, human |
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Plasma and serum samples
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2 point dixon studies of thigh muscles
| Baseline a and one year |
| Changes in microRNA concentration | Investigators will analyze concentration of microRNA after one year follow up in every single patients | One year period |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |