Search for Serum/Plasma Biomarkers in Pompe's Disease (BIOPOMPE)

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

Status: Unknown

Conditions: Late Onset Pompe Disease; Pompe Disease

Treatments: Drug: Enzyme Replacement Agent

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT03045042

IIBSP-BIO-2017-02

GZ-2015-11342 (Other Identifier)

Details and patient eligibility

About

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.

Enrollment: 35 estimated patients

Sex: All

Ages: 2+ years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Genetic confirmation of Pompe disease

Exclusion criteria

• Pregnancy

Trial design

35 participants in 2 patient groups

Treated patients

Description:

Patients with late onset Pompe disease treated with the enzyme replacement therapy

Treatment:

Drug: Enzyme Replacement Agent

Non treated patients

Description:

Patients with late onset Pompe disease non treated with the enzyme replacement therapy