Search for Serum/Plasma Biomarkers in Pompe's Disease

NCT ID: NCT03045042

Last Updated: 2017-03-20

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

35 participants

Study Classification

OBSERVATIONAL

Study Start Date

2017-04-30

Study Completion Date

2019-01-31

Brief Summary

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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.

Detailed Description

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Conditions

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Late Onset Pompe Disease Pompe Disease

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Treated patients

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

Enzyme Replacement Agent

Intervention Type DRUG

Patients will be treated following the decision of their doctors. The investigators are going to analyze serum samples of these patients

Non treated patients

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

No interventions assigned to this group

Interventions

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Enzyme Replacement Agent

Patients will be treated following the decision of their doctors. The investigators are going to analyze serum samples of these patients

Intervention Type DRUG

Other Intervention Names

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Myozyme

Eligibility Criteria

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Inclusion Criteria

* Genetic confirmation of Pompe disease

Exclusion Criteria

* Pregnancy
Minimum Eligible Age

2 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Genzyme, a Sanofi Company

INDUSTRY

Sponsor Role collaborator

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

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Hospital de la Santa Creu i Sant Pau

Barcelona, Barcelona, Spain

Site Status

Countries

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Spain

Central Contacts

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Eduard Gallardo, PhD

Role: CONTACT

9355657682

Jordi Díaz Manera, MD PhD

Role: CONTACT

935565986

Facility Contacts

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Eduard Gallardo, PhD

Role: primary

+349355657692

Jordi Díaz-Manera, Md PhD

Role: backup

+34935565986

Other Identifiers

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GZ-2015-11342

Identifier Type: OTHER

Identifier Source: secondary_id

IIBSP-BIO-2017-02

Identifier Type: -

Identifier Source: org_study_id

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