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

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

Status: Unknown

Conditions: Pompe Disease

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT01914536

IIBSP-POM-2013-46

Details and patient eligibility

About

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.

Full 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

Enrollment: 30 estimated patients

Sex: All

Ages: 8+ years old

Volunteers: No Healthy Volunteers

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)

Trial design

30 participants in 1 patient group

Pompe patients

Description:

Adult onset pompe patients being or not treated with enzyme therapy replacement