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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT01914536
Recruitment Status : Unknown
Verified August 2013 by Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau.
Recruitment status was:  Recruiting
First Posted : August 2, 2013
Last Update Posted : August 30, 2013
Sponsor:
Collaborator:
Genzyme, a Sanofi Company
Information provided by (Responsible Party):
Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau

Study Description
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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.

Condition or disease
Pompe 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 Design
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Study Type : Observational
Estimated Enrollment : 30 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: A Natural History Study of Adult Onset Pompe Disease Using Muscle MRI
Study Start Date : July 2013
Estimated Primary Completion Date : July 2014
Estimated Study Completion Date : July 2017

Resource links provided by the National Library of Medicine


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


Outcome Measures
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Primary Outcome Measures :
  1. 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.


Secondary Outcome Measures :
  1. 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.

  2. 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


Biospecimen Retention:   Samples With DNA
Blood an urine samples will be obtained

Eligibility Criteria
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Ages Eligible for Study:   8 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Adult onset Pompe Patients
Criteria

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)
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01914536


Contacts
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Contact: Jordi Díaz_Manera, MD PhD 0034-935565986 ext 5986 JDiazM@santpau.cat
Contact: Sonia Segovia Simon 0034-935565978 ext 5978 SSegovia@santpau.cat

Locations
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Spain
Hospital de la Santa Creu iSant Pau Recruiting
Barcelona, Spain, 08025
Contact: Jordi Díaz Manera, MD PhD    0034-935565986 ext 5986    JDiazM@santpau.cat   
Contact: Sonia Segovia Simon    0034-935565978 ext 5978    SSegovia@santpau.cat   
Principal Investigator: Jordi Díaz-Manera, MD PhD         
Sub-Investigator: Eduard Gallardo, PhD         
Sub-Investigator: Aida Alejaldre, MD         
Sub-Investigator: Izaskun Belmonte         
Sponsors and Collaborators
Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Genzyme, a Sanofi Company
Investigators
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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
More Information
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Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

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Responsible Party: Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
ClinicalTrials.gov Identifier: NCT01914536    
Other Study ID Numbers: IIBSP-POM-2013-46
First Posted: August 2, 2013    Key Record Dates
Last Update Posted: August 30, 2013
Last Verified: August 2013
Keywords provided by Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau:
POMPE
Glycogenosis type II
Acid maltase deficiency
Additional relevant MeSH terms:
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Glycogen Storage Disease Type II
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
Glycogen Storage Disease
Carbohydrate Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases