An observational study in Late Onset Pompe Disease and Pompe Disease, sponsored by Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau. Status unknown at 1 site in Spain. Open to participants aged 2 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2017-03-20.
Sponsored by Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau · Observational
This study aims to analyze serum and plasma samples from patients with late onset Pompe disease treated and not treated with enzyme replacement therapy (ERT) to identify microRNA that could be specific of the disease. The investigators will correlate the concentration of these microRNA with several muscle function tests and quantitative muscle MRI to know whether they are good biomarkers of progression.
151 studies on the registry are indexed under Glycogen Storage Disease Type II; 30 are open to participants now.
This study's planned enrollment of 35 is below the median of 50 across 62 observational studies indexed under Glycogen Storage Disease Type II.
Browse Glycogen Storage Disease Type II studies →Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau is the lead sponsor of 335 studies on the registry; 64 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Late onset Pompe patiens
Exclusion Criteria:
Patients with late onset Pompe disease treated with the enzyme replacement therapy
Drug: Enzyme Replacement Agent
Patients with late onset Pompe disease non treated with the enzyme replacement therapy
Patients will be treated following the decision of their doctors. The investigators are going to analyze serum samples of these patients
Also known as: Myozyme
MicroRNA in serum samples
Investigators are going to study microRNA following a microarray analysis of serum samples from patients treated and non treated
Time frame: Baseline
Muscle function test
6 minutes walking test (6MWT), time to climb 4 steps, time to descend 4 steps, Activlim, time to walk 10 meter, Medical Research Council scale (MRC), myometry
Time frame: Baseline and one year
Whole body muscle MRI
2 point dixon studies of thigh muscles
Time frame: Baseline a and one year
Changes in microRNA concentration
Investigators will analyze concentration of microRNA after one year follow up in every single patients
Time frame: One year period
Plan to share: No
No publications or documents are linked to this record.
This study is status unknown, as verified in Jan 2017. You cannot join it, but the record below documents what was studied.
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Glycogen Storage Disease Type II→
Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau