A Natural History Study of Adult Onset Pompe Disease Using Muscle MRI (POMPE 2013)
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 Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||A Natural History Study of Adult Onset Pompe Disease Using Muscle MRI|
- Changes in muscle atrophy using muscle MRI in patients with adult onset Pompe disease [ Time Frame: baseline, 6 months, one year, two years and three years ] [ Designated as safety issue: No ]To know the natural progression of the disease regarding muscle atrophy measured using muscle MRI during a period of three years.
- Muscle strength [ Time Frame: baseline, 6 months, one year, two years and three years ] [ Designated as safety issue: No ]To study progression of muscle weakness using manual and informatic devices as myometry. We will compare clinical progression with Muscle MRI results.
- Micro RNA study [ Time Frame: baseline, 6 months, one year, two years and three years ] [ Designated as safety issue: No ]We will obtain blood samples of all the patients to study the microRNA profile and different time points
Biospecimen Retention: Samples With DNA
Blood an urine samples will be obtained
|Study Start Date:||July 2013|
|Estimated Study Completion Date:||July 2017|
|Estimated Primary Completion Date:||July 2014 (Final data collection date for primary outcome measure)|
Adult onset pompe patients being or not treated with enzyme therapy replacement
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).
A single center observational prospective study.
Patients with adult onset POMPE disease (onset of symptoms after two years old) and molecular diagnosis confirming the disease are eligible
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.
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.
This project is funded by Genzyme, a Sanofi company
|Contact: Jordi Díaz_Manera, MD PhD||0034-935565986 ext 5986||JDiazM@santpau.cat|
|Contact: Sonia Segovia Simon||0034-935565978 ext 5978||SSegovia@santpau.cat|
|Hospital de la Santa Creu iSant Pau||Recruiting|
|Barcelona, Spain, 08025|
|Contact: Jordi Díaz Manera, MD PhD 0034-935565986 ext 5986 JDiazM@santpau.cat|
|Contact: Sonia Segovia Simon 0034-935565978 ext 5978 SSegovia@santpau.cat|
|Principal Investigator: Jordi Díaz-Manera, MD PhD|
|Sub-Investigator: Eduard Gallardo, PhD|
|Sub-Investigator: Aida Alejaldre, MD|
|Sub-Investigator: Izaskun Belmonte|
|Principal Investigator:||Jordi Díaz Manera, MD PhD||Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau|
|Study Director:||Isabel Illa, MD pHD||Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau|