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| Name | Class |
|---|---|
| Genzyme, a Sanofi Company | INDUSTRY |
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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.
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
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Pompe patients | Adult onset pompe patients being or not treated with enzyme therapy replacement |
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| 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 |
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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Adult onset Pompe Patients
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Jordi Díaz_Manera, MD PhD | Contact | 0034-935565986 | 5986 | JDiazM@santpau.cat |
| Sonia Segovia Simon | Contact | 0034-935565978 | 5978 | SSegovia@santpau.cat |
| Name | Affiliation | Role |
|---|---|---|
| Jordi Díaz Manera, MD PhD | Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau | Principal Investigator |
| Isabel Illa, MD pHD | Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hospital de la Santa Creu iSant Pau | Recruiting | Barcelona | Barcelona | 08025 | Spain |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 31353854 | Derived | Carrasco-Rozas A, Fernandez-Simon E, Lleixa MC, Belmonte I, Pedrosa-Hernandez I, Montiel-Morillo E, Nunez-Peralta C, Llauger Rossello J, Segovia S, De Luna N, Suarez-Calvet X, Illa I; Pompe Spanish Study group; Diaz-Manera J, Gallardo E. Identification of serum microRNAs as potential biomarkers in Pompe disease. Ann Clin Transl Neurol. 2019 Jul;6(7):1214-1224. doi: 10.1002/acn3.50800. Epub 2019 Jun 12. |
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| ID | Term |
|---|---|
| D006009 | Glycogen Storage Disease Type II |
| ID | Term |
|---|---|
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
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Blood an urine samples will be obtained
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 |
| 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 |
| D006008 | Glycogen Storage Disease |
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |