Clinical Trial: Search for Serum/Plasma Biomarkers in Pompe's Disease

Study Status: Not yet recruiting
Recruit Status: Not yet recruiting
Study Type: Observational

Official Title: Search for Serum/Plasma Biomarkers in Pompe's Disease

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 Summary:
Sponsor: Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau

Current Primary Outcome: MicroRNA in serum samples [ Time Frame: Baseline ]

Investigators are going to study microRNA following a microarray analysis of serum samples from patients treated and non treated


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Muscle function test [ Time Frame: 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 [ Time Frame: Baseline a and one year ]
    2 point dixon studies of thigh muscles
  • Changes in microRNA concentration [ Time Frame: One year period ]
    Investigators will analyze concentration of microRNA after one year follow up in every single patients


Original Secondary Outcome: Same as current

Information By: Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau

Dates:
Date Received: January 27, 2017
Date Started: April 2017
Date Completion: January 2019
Last Updated: March 17, 2017
Last Verified: January 2017