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

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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

Tracking Information
First Submitted Date July 31, 2013
First Posted Date August 2, 2013
Last Update Posted Date August 30, 2013
Study Start Date July 2013
Estimated Primary Completion Date July 2014   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: August 29, 2013)
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 Measures
 (submitted: July 31, 2013)
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.
Change History
Current Secondary Outcome Measures
 (submitted: August 29, 2013)
  • 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 Measures
 (submitted: July 31, 2013)
  • 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.
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title A Natural History Study of Adult Onset Pompe Disease Using Muscle MRI
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 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
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
Blood an urine samples will be obtained
Sampling Method Non-Probability Sample
Study Population Adult onset Pompe Patients
Condition Pompe Disease
Intervention Not Provided
Study Groups/Cohorts Pompe patients
Adult onset pompe patients being or not treated with enzyme therapy replacement
Publications * Carrasco-Rozas A, Fernández-Simón E, Lleixà MC, Belmonte I, Pedrosa-Hernandez I, Montiel-Morillo E, Nuñez-Peralta C, Llauger Rossello J, Segovia S, De Luna N, Suarez-Calvet X, Illa I; Pompe Spanish Study group, Díaz-Manera J, Gallardo E. Identification of serum microRNAs as potential biomarkers in Pompe disease. Ann Clin Transl Neurol. 2019 Jul;6(7):1214-1224. doi: 10.1002/acn3.50800. Epub 2019 Jun 12.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Unknown status
Estimated Enrollment
 (submitted: July 31, 2013)
30
Original Estimated Enrollment Same as current
Estimated Study Completion Date July 2017
Estimated Primary Completion Date July 2014   (Final data collection date for primary outcome measure)
Eligibility 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)
Sex/Gender
Sexes Eligible for Study: All
Ages 8 Years and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries Spain
Removed Location Countries  
 
Administrative Information
NCT Number NCT01914536
Other Study ID Numbers IIBSP-POM-2013-46
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
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
PRS Account Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Verification Date August 2013