A Natural History Study of Adult Onset Pompe Disease Using Muscle MRI (POMPE 2013)
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|ClinicalTrials.gov Identifier: NCT01914536|
Recruitment Status : Unknown
Verified August 2013 by Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau.
Recruitment status was: Recruiting
First Posted : August 2, 2013
Last Update Posted : August 30, 2013
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|Condition or disease|
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
|Study Type :||Observational|
|Estimated Enrollment :||30 participants|
|Official Title:||A Natural History Study of Adult Onset Pompe Disease Using Muscle MRI|
|Study Start Date :||July 2013|
|Estimated Primary Completion Date :||July 2014|
|Estimated Study Completion Date :||July 2017|
Adult onset pompe patients being or not treated with enzyme therapy replacement
- 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 ]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 ]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 ]We will obtain blood samples of all the patients to study the microRNA profile and different time points
Biospecimen Retention: Samples With DNA
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|Ages Eligible for Study:||8 Years and older (Child, Adult, Older Adult)|
|Sexes Eligible for Study:||All|
|Accepts Healthy Volunteers:||No|
|Sampling Method:||Non-Probability Sample|
- 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
- Patients unable to perform a MRI (respiratory problems can be solved using mechanical ventilation)
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01914536
|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|
|Responsible Party:||Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau|
|Other Study ID Numbers:||
|First Posted:||August 2, 2013 Key Record Dates|
|Last Update Posted:||August 30, 2013|
|Last Verified:||August 2013|
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