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

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

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

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 Summary:

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

Current Primary Outcome: 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.


Original Primary Outcome: Changes in muscle atrophy using muscle MRI in patients with adult onset Pompe disease [ Time Frame: 3 years ]

To know the natural progression of the disease regarding muscle atrophy measured using muscle MRI during a period of three years.


Current Secondary Outcome:

  • 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.
  • 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


Original Secondary Outcome:

  • Micro-RNA study in blood [ Time Frame: 3 years ]
    To obtain micro-RNA in blood samples from patients with adult onset Pompe disease during a follow-up period of three years
  • Muscle strength [ Time Frame: 3 years ]
    To study progression of muscle weakness using manual and informatic devices as myometry. We will compare clinical progression with Muscle MRI results.


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

Dates:
Date Received: July 31, 2013
Date Started: July 2013
Date Completion: July 2017
Last Updated: August 29, 2013
Last Verified: August 2013