A Natural History Study of Adult Onset Pompe Disease Using Muscle MRI (POMPE 2013)

August 29, 2013 updated by: Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
This project is an observational prospective study in which patients affected by an adult onset Pompe disease will be followed-up during three years using different clinical, analytical and radiological tests in order to know which is the natural history of the disease and which is the impact that treatment with recombinant enzyme has in the progression of the disease.

Study Overview

Status

Unknown

Conditions

Detailed Description

Study aim:

The principal objective of the study is to find biomarkers that quantify the natural progression of the disease and to know if they are useful to determine the improvement or lack of impairment of the disease in response to Enzyme Replacement Therapy (ERT).

Study design:

A single center observational prospective study.

Patients:

Patients with adult onset POMPE disease (onset of symptoms after two years old) and molecular diagnosis confirming the disease are eligible

Methods:

Clinical information will be obtained according to a pre-defined protocol including six visits: screening visit, baseline, 6 month, 12 month, 24 month and 36 month.

In each visit we will perform the following tests: clinical assessment (including interview with patients, quality of live questionnaires, timed tests and assessment of muscle balance using a myometer), analytical tests (blood and urine tests), cardiac test (Electrocardiogram (ECG) and cardiac echography), respiratory assessment (using spirometer) and skeletal muscle imaging (Muscle MRI).

All data collect will be introduced in a database and afterwards statistically analyzed.

Expected results:

We expect to find a biomarker useful to follow-up the progression of Pompe disease. This biomarker has to be sensitive to the changes that muscle function may have after treatment with ERT.

Funding:

This project is funded by Genzyme, a Sanofi company

Study Type

Observational

Enrollment (Anticipated)

30

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

  • Name: Jordi Díaz_Manera, MD PhD
  • Phone Number: 5986 0034-935565986
  • Email: JDiazM@santpau.cat

Study Contact Backup

Study Locations

  • Spain
      • Barcelona, Spain, 08025
        • Recruiting
        • Hospital de La Santa Creu Isant Pau
        • Contact:
        • Contact:
        • Principal Investigator:
          • Jordi Díaz-Manera, MD PhD
        • Sub-Investigator:
          • Eduard Gallardo, PhD
        • Sub-Investigator:
          • Aida Alejaldre, MD
        • Sub-Investigator:
          • Izaskun Belmonte

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

8 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Adult onset Pompe Patients

Description

Inclusion Criteria:

  • Pompe disease confirmed using genetic study
  • Onset of symptoms more than 2 years old
  • To be able to come to the hospital and follow all the visits
  • Patients with respiratory involvement are welcomed

Exclusion Criteria:

  • Patients unable to perform a MRI (respiratory problems can be solved using mechanical ventilation)

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Pompe patients
Adult onset pompe patients being or not treated with enzyme therapy replacement

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Changes in muscle atrophy using muscle MRI in patients with adult onset Pompe disease
Time Frame: baseline, 6 months, one year, two years and three years
To know the natural progression of the disease regarding muscle atrophy measured using muscle MRI during a period of three years.
baseline, 6 months, one year, two years and three years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Muscle strength
Time Frame: baseline, 6 months, one year, two years and three years
To study progression of muscle weakness using manual and informatic devices as myometry. We will compare clinical progression with Muscle MRI results.
baseline, 6 months, one year, two years and three years
Micro RNA study
Time Frame: baseline, 6 months, one year, two years and three years
We will obtain blood samples of all the patients to study the microRNA profile and different time points
baseline, 6 months, one year, two years and three years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

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

Collaborators

Genzyme, a Sanofi Company

Investigators

  • Principal Investigator: Jordi Díaz Manera, MD PhD, Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
  • Study Director: Isabel Illa, MD pHD, Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

July 1, 2013

Primary Completion (Anticipated)

July 1, 2014

Study Completion (Anticipated)

July 1, 2017

Study Registration Dates

First Submitted

July 31, 2013

First Submitted That Met QC Criteria

July 31, 2013

First Posted (Estimate)

August 2, 2013

Study Record Updates

Last Update Posted (Estimate)

August 30, 2013

Last Update Submitted That Met QC Criteria

August 29, 2013

Last Verified

August 1, 2013

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • IIBSP-POM-2013-46

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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