Search for Serum/Plasma Biomarkers in Pompe's Disease
- Conditions
- Late Onset Pompe DiseasePompe Disease
- Interventions
- Drug: Enzyme Replacement Agent
- Registration Number
- NCT03045042
- Lead Sponsor
- Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
- Brief Summary
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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- UNKNOWN
- Sex
- All
- Target Recruitment
- 35
- Genetic confirmation of Pompe disease
- Pregnancy
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Treated patients Enzyme Replacement Agent Patients with late onset Pompe disease treated with the enzyme replacement therapy
- Primary Outcome Measures
Name Time Method MicroRNA in serum samples Baseline Investigators are going to study microRNA following a microarray analysis of serum samples from patients treated and non treated
- Secondary Outcome Measures
Name Time Method Muscle function test Baseline and one year 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
Whole body muscle MRI Baseline a and one year 2 point dixon studies of thigh muscles
Changes in microRNA concentration One year period Investigators will analyze concentration of microRNA after one year follow up in every single patients
Trial Locations
- Locations (1)
Hospital de la Santa Creu i Sant Pau
🇪🇸Barcelona, Spain