A Natural History Study of Adult Onset Pompe Disease Using Muscle MRI
NCT ID: NCT01914536
Last Updated: 2013-08-30
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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UNKNOWN
30 participants
OBSERVATIONAL
2013-07-31
2017-07-31
Brief Summary
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Detailed Description
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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
Conditions
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Keywords
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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Pompe patients
Adult onset pompe patients being or not treated with enzyme therapy replacement
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
* 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
8 Years
ALL
No
Sponsors
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Genzyme, a Sanofi Company
INDUSTRY
Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
OTHER
Responsible Party
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Principal Investigators
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Jordi Díaz Manera, MD PhD
Role: PRINCIPAL_INVESTIGATOR
Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Isabel Illa, MD pHD
Role: STUDY_DIRECTOR
Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Locations
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Hospital de la Santa Creu iSant Pau
Barcelona, Barcelona, Spain
Countries
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Central Contacts
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Facility Contacts
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Jordi Díaz Manera, MD PhD
Role: primary
Sonia Segovia Simon
Role: backup
References
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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.
Other Identifiers
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IIBSP-POM-2013-46
Identifier Type: -
Identifier Source: org_study_id