Pompe DiseasePOMPE 2013NCT01914536
A Natural History Study of Adult Onset Pompe Disease Using Muscle MRI
An observational study of Pompe Disease, run by Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau at 1 site in Spain.
Trial 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… Read more about this study
- Who is it for?
- Ages 8 years and older
- Conditions the study is for
- Pompe Disease
- How many people
- 30 participants
- Where
- 1 siteSpain
- Study dates
- Jul 2013to Jul 2017
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 8 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Adult onset Pompe Patients
Who may be able to join
- 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
Who cannot join
- Patients unable to perform a MRI (respiratory problems can be solved using mechanical ventilation)
Trial locations and contacts
1 site in 1 country.
Spain1 site, 1 recruiting
- Recruiting
Hospital de la Santa Creu iSant Pau
Barcelona, Barcelona, 08025
Jordi Díaz Manera, MD PhD, 0034-935565986 ext. 5986, JDiazM@santpau.cat
Sonia Segovia Simon, 0034-935565978 ext. 5978, SSegovia@santpau.cat
About this study
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.
Read the 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
- Conditions
- Pompe Disease
- Keywords
- POMPE, Glycogenosis type II, Acid maltase deficiency
- Medical subject headings
- Glycogen Storage Disease Type II
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Pompe patients | Adult onset pompe patients being or not treated with enzyme therapy replacement |
What is being measured
The primary outcome is the main question the study is designed to answer.
Changes in muscle atrophy using muscle MRI in patients with adult onset Pompe disease
To know the natural progression of the disease regarding muscle atrophy measured using muscle MRI during a period of three years.
Measured: baseline, 6 months, one year, two years and three years
Secondary outcomes (2)
Muscle strength
To study progression of muscle weakness using manual and informatic devices as myometry. We will compare clinical progression with Muscle MRI results.
Measured: baseline, 6 months, one year, two years and three years
Micro RNA study
We will obtain blood samples of all the patients to study the microRNA profile and different time points
Measured: baseline, 6 months, one year, two years and three years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Aug 2013 (estimated)
- Study startJul 2013
- Primary completionJul 2014 (estimated)
- Study completionJul 2017 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Pompe DiseaseStudies of the same condition, open and under way.
- More trials run by Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant PauThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Collaborators
- Genzyme, a Sanofi Company
- Responsible party
- Sponsor
- Investigators
- Jordi Díaz Manera, MD PhD, Principal investigator, Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant PauIsabel Illa, MD pHD, Study director, Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01914536
- Sponsor's protocol ID
- IIBSP-POM-2013-46
- Acronym
- POMPE 2013
- Status last verified
- Aug 2013
- First submitted
- 31 Jul 2013
- Last updated
- 30 Aug 2013
- Results posted
- No
- Data monitoring committee
- No
Publications
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.
PubMed 31353854
Study at a glance
From the registry record, last updated by the sponsor on 30 Aug 2013. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Natural History Study of Adult Onset Pompe Disease Using Muscle MRI
- ClinicalTrials.gov ID
- NCT01914536
- Acronym / sponsor ID
- POMPE 2013 / IIBSP-POM-2013-46
- Conditions
- Pompe Disease
- Keywords
- POMPE, Glycogenosis type II, Acid maltase deficiency
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant PauUniversity, hospital or other
- Collaborators
- Genzyme, a Sanofi Company
- Study start
- Jul 2013
- Primary completion
- Jul 2014 (estimated)
- Study completion
- Jul 2017 (estimated)
- First posted
- 2 Aug 2013 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Pompe patients | – | –Adult onset pompe patients being or not treated with enzyme therapy replacement |
Who may qualify
- Ages
- 8 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Adult onset Pompe Patients
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (1 listed)
- Patients unable to perform a MRI (respiratory problems can be solved using mechanical ventilation)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
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.
2 secondary outcomes
Muscle strength
Time frame: baseline, 6 months, one year, two years and three years
Micro RNA study
Time frame: baseline, 6 months, one year, two years and three years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Aug 2013.
- Derived from this study: PubMed 31353854Carrasco-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.
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Pompe Disease
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Jordi Díaz Manera, MD PhD principal investigator
Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Isabel Illa, MD pHD study director
Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Pompe Disease, run by Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau at 1 site in Spain.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 30 Aug 2013. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Spain. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Jordi Díaz_Manera, MD PhD (0034-935565986 ext. 5986, JDiazM@santpau.cat), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01914536, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Aug 2013.