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

Sponsor
Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau (Other)
Overall Status
Unknown status
CT.gov ID
NCT03045042
Collaborator
Genzyme, a Sanofi Company (Industry)
35
Enrollment
1
Location
21
Anticipated Duration (Months)
1.7
Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease Intervention/Treatment Phase
  • Drug: Enzyme Replacement Agent

Study Design

Study Type:
Observational
Anticipated Enrollment :
35 participants
Observational Model:
Cohort
Time Perspective:
Prospective
Official Title:
Search for Serum/Plasma Biomarkers in Pompe's Disease
Anticipated Study Start Date :
Apr 1, 2017
Anticipated Primary Completion Date :
Jan 1, 2018
Anticipated Study Completion Date :
Jan 1, 2019

Arms and Interventions

Arm 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

    Outcome Measures

    Primary Outcome Measures

    1. 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

    1. 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

    2. Whole body muscle MRI [Baseline a and one year]

      2 point dixon studies of thigh muscles

    3. Changes in microRNA concentration [One year period]

      Investigators will analyze concentration of microRNA after one year follow up in every single patients

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    2 Years and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    Yes
    Inclusion Criteria:
    • Genetic confirmation of Pompe disease
    Exclusion Criteria:
    • Pregnancy

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Hospital de la Santa Creu i Sant Pau Barcelona Spain 08025

    Sponsors and Collaborators

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

    Investigators

    None specified.

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
    ClinicalTrials.gov Identifier:
    NCT03045042
    Other Study ID Numbers:
    • IIBSP-BIO-2017-02
    • GZ-2015-11342
    First Posted:
    Feb 7, 2017
    Last Update Posted:
    Mar 20, 2017
    Last Verified:
    Jan 1, 2017
    Individual Participant Data (IPD) Sharing Statement:
    No
    Plan to Share IPD:
    No
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Keywords provided by Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
    Pompe
    microRNA
    biomarker
    muscle MRI
    glycogenosis
    Additional relevant MeSH terms:
    Glycogen Storage Disease Type II

    Study Results

    No Results Posted as of Mar 20, 2017