A Natural History Study of Adult Onset Pompe Disease Using Muscle MRI

• Conditions: Pompe Disease

• Registration Number: NCT01914536
• Lead Sponsor: Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau

Brief Summary

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.

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 Timeline

• Study Start: 2013-07
• Study First Submitted: 2013-07-31
• Study First Submitted QC: 2013-07-31
• Status Verified: 2013-08
• Study First Posted: 2013-08-02
• Last Update Submitted: 2013-08-29
• Last Update Posted: 2013-08-30
• Primary Completion: 2014-07
• Study Completion: 2017-07

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 30

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Changes in muscle atrophy using muscle MRI in patients with adult onset Pompe disease	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.

Secondary Outcome Measures

Name	Time	Method
Muscle strength	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.
Micro RNA study	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

Trial Locations

Locations (1)

Hospital de la Santa Creu iSant Pau; 🇪🇸 Barcelona, Spain