Clinical trial NCT01914536: 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
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Pompe Disease
Keywords: POMPE
Glycogenosis type II
Acid maltase deficiency
Lead sponsor: Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Sponsor class: OTHER
Collaborators: name: Genzyme, a Sanofi Company
First posted: 2013-08-02
Enrollment: 30
Sex: ALL
Minimum age (years): 8
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Adult onset Pompe Patients

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

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)

Primary outcomes:
measure: Changes in muscle atrophy using muscle MRI in patients with adult onset Pompe disease
timeFrame: baseline, 6 months, one year, two years and three years
Secondary outcomes:
measure: Muscle strength
timeFrame: baseline, 6 months, one year, two years and three years
measure: Micro RNA study
timeFrame: baseline, 6 months, one year, two years and three years
Other outcomes:
Locations:
city: Barcelona
country: Spain
facility: Hospital de la Santa Creu iSant Pau
Study officials:
affiliation: Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
name: Jordi Díaz Manera, MD PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
name: Isabel Illa, MD pHD
role: STUDY_DIRECTOR
References:
citation: Carrasco-Rozas A, Fernandez-Simon E, Lleixa MC, Belmonte I, Pedrosa-Hernandez I, Montiel-Morillo E, Nunez-Peralta C, Llauger Rossello J, Segovia S, De Luna N, Suarez-Calvet X, Illa I; Pompe Spanish Study group; Diaz-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.