Pompe Disease Clinical Trial
Official title:
A Natural History Study of Adult Onset Pompe Disease Using Muscle MRI
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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Observational Model: Cohort, Time Perspective: Prospective
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|---|---|---|---|
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