Late Onset Pompe DiseaseBIOPOMPENCT03045042
Search for Serum/Plasma Biomarkers in Pompe's Disease
An observational study of Late Onset Pompe Disease and 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 study aims to analyze serum and plasma samples from patients with late onset Pompe disease treated and not treated with enzyme replacement therapy (ERT) to identify microRNA that could be specific of the disease. Read more about this study
- Who is it for?
- Ages 2 years and olderHealthy volunteers can take part
- Conditions the study is for
- Late Onset Pompe Disease, Pompe Disease
- What is being tested?
- Enzyme Replacement Agent
- How many people
- 35 participants
- Where
- 1 siteSpain
- Study dates
- Apr 2017to Jan 2019
- 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 2 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Late onset Pompe patiens
Who may be able to join
- Genetic confirmation of Pompe disease
Who cannot join
- Pregnancy
Trial locations and contacts
1 site in 1 country.
Spain1 site
Hospital de la Santa Creu i Sant Pau
Barcelona, Barcelona, 08025
Eduard Gallardo, PhD, +349355657692, egallardo@gmail.com
Jordi Díaz-Manera, Md PhD, +34935565986, jdiazm@santpau.cat
About this study
This study aims to analyze serum and plasma samples from patients with late onset Pompe disease treated and not treated with enzyme replacement therapy (ERT) to identify microRNA that could be specific of the disease. The investigators will correlate the concentration of these microRNA with several muscle function tests and quantitative muscle MRI to know whether they are good biomarkers of progression.
- Conditions
- Late Onset Pompe Disease, Pompe Disease
- Being tested
- Enzyme Replacement Agent
- Keywords
- Pompe, microRNA, biomarker, muscle MRI, glycogenosis
- Medical subject headings
- Glycogen Storage Disease Type II, Glycogen Storage Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Enzyme Replacement AgentDrug
Also called Myozyme
Patients will be treated following the decision of their doctors. The investigators are going to analyze serum samples of these patients
| Study group | Role | What they receive |
|---|---|---|
| Treated patients | Patients with late onset Pompe disease treated with the enzyme replacement therapy Receives: Drug: Enzyme Replacement Agent | |
| Non treated patients | Patients with late onset Pompe disease non treated with the enzyme replacement therapy |
What is being measured
The primary outcome is the main question the study is designed to answer.
MicroRNA in serum samples
Investigators are going to study microRNA following a microarray analysis of serum samples from patients treated and non treated
Measured: Baseline
Secondary outcomes (3)
Muscle function test
6 minutes walking test (6MWT), time to climb 4 steps, time to descend 4 steps, Activlim, time to walk 10 meter, Medical Research Council scale (MRC), myometry
Measured: Baseline and one year
Whole body muscle MRI
2 point dixon studies of thigh muscles
Measured: Baseline a and one year
Changes in microRNA concentration
Investigators will analyze concentration of microRNA after one year follow up in every single patients
Measured: One year period
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Feb 2017 (estimated)
- Study startApr 2017 (estimated)
- Primary completionJan 2018 (estimated)
- Study completionJan 2019 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Late Onset 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
- 35 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Collaborators
- Genzyme, a Sanofi Company
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03045042
- Sponsor's protocol ID
- IIBSP-BIO-2017-02
- Other IDs
- GZ-2015-11342
- Acronym
- BIOPOMPE
- Status last verified
- Jan 2017
- First submitted
- 27 Jan 2017
- Last updated
- 20 Mar 2017
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 Mar 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Search for Serum/Plasma Biomarkers in Pompe's Disease
- ClinicalTrials.gov ID
- NCT03045042
- Acronym / sponsor ID
- BIOPOMPE / IIBSP-BIO-2017-02
- Conditions
- Late Onset Pompe Disease, Pompe Disease
- Keywords
- Pompe, microRNA, biomarker, muscle MRI, glycogenosis
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 35 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
- Apr 2017 (estimated)
- Primary completion
- Jan 2018 (estimated)
- Study completion
- Jan 2019 (estimated)
- First posted
- 7 Feb 2017 (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 study aims to analyze serum and plasma samples from patients with late onset Pompe disease treated and not treated with enzyme replacement therapy (ERT) to identify microRNA that could be specific of the disease. The investigators will correlate the concentration of these microRNA with several muscle function tests and quantitative muscle MRI to know whether they are good biomarkers of progression.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Treated patients | – | Drug: Enzyme Replacement AgentPatients with late onset Pompe disease treated with the enzyme replacement therapy |
| Non treated patients | – | –Patients with late onset Pompe disease non treated with the enzyme replacement therapy |
Who may qualify
- Ages
- 2 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Late onset Pompe patiens
Key inclusion criteria (1 listed)
- Genetic confirmation of Pompe disease
Key exclusion criteria (1 listed)
- Pregnancy
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Enzyme Replacement AgentAlso: MyozymePatients will be treated following the decision of their doctors. The investigators are going to analyze serum samples of these patients | Drug | Treated patients |
Primary outcome
MicroRNA in serum samples
Time frame: Baseline
Investigators are going to study microRNA following a microarray analysis of serum samples from patients treated and non treated
3 secondary outcomes
Muscle function test
Time frame: Baseline and one year
Whole body muscle MRI
Time frame: Baseline a and one year
Changes in microRNA concentration
Time frame: One year period
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Mar 2017.
- Individual participant dataSharing planned: No
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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.
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 Late Onset Pompe Disease and 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 1 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 20 Mar 2017. 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 Eduard Gallardo, PhD (9355657682, egallardo@santpau.cat), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
MicroRNA in serum samples (time frame: Baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 20 Mar 2017.