Late Onset Pompe Disease, Pompe Disease
Conditions
Keywords
Pompe, microRNA, biomarker, muscle MRI, glycogenosis
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.
Interventions
Patients will be treated following the decision of their doctors. The investigators are going to analyze serum samples of these patients
Sponsors
Genzyme, a Sanofi Company
Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
2 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
* Genetic confirmation of Pompe disease
Exclusion criteria
* Pregnancy
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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 |
Countries
Spain
Contacts
Primary ContactEduard Gallardo, PhD
Backup ContactJordi Díaz Manera, MD PhD
Outcome results
None listed