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Trial record 30 of 103 for:    Pompe Disease

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

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ClinicalTrials.gov Identifier: NCT03045042
Recruitment Status : Unknown
Verified January 2017 by Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau.
Recruitment status was:  Not yet recruiting
First Posted : February 7, 2017
Last Update Posted : March 20, 2017
Sponsor:
Collaborator:
Genzyme, a Sanofi Company
Information provided by (Responsible Party):
Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau

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
Late Onset Pompe Disease Pompe Disease Drug: Enzyme Replacement Agent

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


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 Name: Myozyme

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



Primary Outcome Measures :
  1. 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


Secondary Outcome Measures :
  1. 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

  2. Whole body muscle MRI [ Time Frame: Baseline a and one year ]
    2 point dixon studies of thigh muscles

  3. Changes in microRNA concentration [ Time Frame: One year period ]
    Investigators will analyze concentration of microRNA after one year follow up in every single patients


Biospecimen Retention:   Samples Without DNA
Plasma and serum samples


Information from the National Library of Medicine

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Ages Eligible for Study:   2 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
Late onset Pompe patiens
Criteria

Inclusion Criteria:

  • Genetic confirmation of Pompe disease

Exclusion Criteria:

  • Pregnancy

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03045042


Contacts
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Contact: Eduard Gallardo, PhD 9355657682 egallardo@santpau.cat
Contact: Jordi Díaz Manera, MD PhD 935565986 jdiazm@santpau.cat

Locations
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Spain
Hospital de la Santa Creu i Sant Pau Not yet recruiting
Barcelona, Spain, 08025
Contact: Eduard Gallardo, PhD    +349355657692    egallardo@gmail.com   
Contact: Jordi Díaz-Manera, Md PhD    +34935565986    jdiazm@santpau.cat   
Sponsors and Collaborators
Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Genzyme, a Sanofi Company

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Responsible Party: Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
ClinicalTrials.gov Identifier: NCT03045042     History of Changes
Other Study ID Numbers: IIBSP-BIO-2017-02
GZ-2015-11342 ( Other Identifier: Genzyme )
First Posted: February 7, 2017    Key Record Dates
Last Update Posted: March 20, 2017
Last Verified: January 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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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:
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Glycogen Storage Disease Type II
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Glycogen Storage Disease
Lysosomal Storage Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors