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

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.

Study Overview

• Status: Unknown
• Conditions: Pompe Disease; Late Onset Pompe Disease
• Intervention / Treatment: Drug: Enzyme Replacement Agent

• Study Type: Observational
• Enrollment (Anticipated): 35

Contacts and Locations

• Study Contact: Name: Eduard Gallardo, PhD; Phone Number: 9355657682; Email: egallardo@santpau.cat
• Study Contact Backup: Name: Jordi Díaz Manera, MD PhD; Phone Number: 935565986; Email: jdiazm@santpau.cat

Study Locations

• Spain
  • Barcelona, Spain, 08025
    • Hospital de La Santa Creu I Sant Pau
    • Contact: Eduard Gallardo, PhD; Phone Number: +349355657692; Email: egallardo@gmail.com
    • Contact: Jordi Díaz-Manera, Md PhD; Phone Number: +34935565986; Email: jdiazm@santpau.cat

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 7 months and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

Late onset Pompe patiens

Description

Inclusion Criteria:

• Genetic confirmation of Pompe disease

Exclusion Criteria:

• Pregnancy

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Treated patients; Patients with late onset Pompe disease treated with the enzyme replacement therapy	Drug: Enzyme Replacement Agent; Patients will be treated following the decision of their doctors. The investigators are going to analyze serum samples of these patients; Other Names: Myozyme
Non treated patients; Patients with late onset Pompe disease non treated with the enzyme replacement therapy

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
MicroRNA in serum samples	Investigators are going to study microRNA following a microarray analysis of serum samples from patients treated and non treated	Baseline

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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	Baseline and one year
Whole body muscle MRI	2 point dixon studies of thigh muscles	Baseline a and one year
Changes in microRNA concentration	Investigators will analyze concentration of microRNA after one year follow up in every single patients	One year period

Collaborators and Investigators

• Sponsor: Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
• Collaborators: Genzyme, a Sanofi Company

Study record dates

Study Major Dates

• Study Start (Anticipated): April 1, 2017
• Primary Completion (Anticipated): January 1, 2018
• Study Completion (Anticipated): January 1, 2019

Study Registration Dates

• First Submitted: January 27, 2017
• First Submitted That Met QC Criteria: February 6, 2017
• First Posted (Estimate): February 7, 2017

Study Record Updates

• Last Update Posted (Actual): March 20, 2017
• Last Update Submitted That Met QC Criteria: March 17, 2017
• Last Verified: January 1, 2017

More Information

Terms related to this study

• Keywords: biomarker; microRNA; Pompe; muscle MRI; glycogenosis
• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Lysosomal Storage Diseases, Nervous System; Glycogen Storage Disease; Glycogen Storage Disease Type II
• Other Study ID Numbers: IIBSP-BIO-2017-02; GZ-2015-11342 (Other Identifier: Genzyme)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No