Search for Serum/Plasma Biomarkers in Pompe's Disease

NCT03045042 | Unknown DMC

• 2 other identifiers: IIBSP-BIO-2017-02GZ-2015-11342
• Study Type: observational
• Target: 35
• Locations: 1 country
• Sites: 1

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.

Conditions

Late Onset Pompe Disease; Pompe Disease

Keywords

Pompe; microRNA; biomarker; muscle MRI; glycogenosis

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (3)

• Muscle function test

  Baseline and one year

• Whole body muscle MRI

  Baseline a and one year

• Changes in microRNA concentration

  One year period

Study Arms (2)

Treated patients

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

Drug: Enzyme Replacement Agent

Non treated patients

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

Interventions

Enzyme Replacement Agent DRUG

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

Also known as: Myozyme

Treated patients

Eligibility Criteria

• Age: 2 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Late onset Pompe patiens

You may qualify if:

• Genetic confirmation of Pompe disease

You may not qualify if:

• Pregnancy

Sponsors & Collaborators

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

Study Sites (1)

Hospital de la Santa Creu i Sant Pau

Barcelona, Barcelona, 08025, Spain

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Plasma and serum samples

MeSH Terms

Conditions

Glycogen Storage Disease Type II; Glycogen Storage Disease

Interventions

GAA protein, human

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Central Study Contacts

Eduard Gallardo, PhD

CONTACT

9355657682; egallardo@santpau.cat

Jordi Díaz Manera, MD PhD

CONTACT

935565986; jdiazm@santpau.cat

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 27, 2017
• First Posted: February 7, 2017
• Study Start: April 1, 2017
• Primary Completion: January 1, 2018
• Study Completion: January 1, 2019
• Last Updated: March 20, 2017

Record last verified: 2017-01

Data Sharing

• IPD Sharing: Will not share

Locations

ES (1)