Pompe Disease (Late-Onset)Phase 4NCT01288027
Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa
A Phase 4 study testing Alglucosidase Alfa in people with Pompe Disease (Late-Onset) and Glycogen Storage Disease Type II (GSD II), run by Genzyme, a Sanofi Company at 15 sites in 4 countries.
Trial summary
This is an open-label, multicenter study of participants with late-onset Pompe disease naive to treatment with enzyme replacement therapy (ERT). The primary objective of this study is to evaluate glycogen clearance in muscle tissue samples collected pre and post alglucosidase alfa treatment in participants with… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD II), Glycogenesis 2 Acid Maltase Deficiency
- What is being tested?
- Alglucosidase Alfa
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 16 participants
- Where
- 15 sitesin 4 countries
- Study dates
- Jun 2011to Dec 2013
- Phase
- Phase 4
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- The participant has confirmed acid alpha-glucosidase (GAA) enzyme deficiency from any tissue source and/or confirmed GAA gene mutations and without known cardiac hypertrophy
- The participant is able to ambulate a distance without stopping and without an assistive device. Use of assistive device for community ambulation is appropriate
- The participant has a certain forced vital capacity (FVC) in upright position
- The participant, if female and of childbearing potential, must have a negative pregnancy test (urine beta-human chorionic gonadotropin [beta-hCG]) at baseline
Who cannot join
- The participant has had previous treatment with ERT
- The participant is wheelchair dependent
- The participant requires invasive-ventilation (non-invasive ventilation is allowed)
- The participant is participating in another clinical study using investigational treatment
- The participant cannot submit to magnetic resonance imaging (MRI) examination because of a formal contraindication such as a pacemaker, implanted ferromagnetic metals, etc
- The participant, in the opinion of the Investigator, is unable to adhere to the requirements of the study
Trial locations and contacts
15 sites in 4 countries.
15 sites in 4 countries
United States9 sites
Study site
Colombus, Ohio
Study site
Durham, North Carolina
Study site
Fairfax, Virginia
Study site
Gainesville, Florida
Study site
Heshey, Pennsylvania
Study site
Kansas City, Kansas
Study site
New York, New York
Study site
Orange, California
Study site
St Louis, Missouri
About this study
Official title: A Phase 4 Prospective Exploratory Muscle Biopsy, Biomarker, and Imaging Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa
This is an open-label, multicenter study of participants with late-onset Pompe disease naive to treatment with enzyme replacement therapy (ERT). The primary objective of this study is to evaluate glycogen clearance in muscle tissue samples collected pre and post alglucosidase alfa treatment in participants with Late-Onset Pompe disease.
The secondary objectives are to characterize the disease burden in participants with late-onset Pompe disease and explore imaging, histologic, and functional assessments in these participants and to explore potential plasma or urine biomarkers relative to late-onset Pompe disease and participant's response to treatment with alglucosidase alfa (Myozyme®/Lumizyme®/GZ419829).
- Conditions
- Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD II), Glycogenesis 2 Acid Maltase Deficiency
- Being tested
- Alglucosidase Alfa
- 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.
Alglucosidase AlfaBiological
Also called GZ419829, Myozyme®, Lumizyme®
Alglucosidase alfa intravenous infusion 20 milligram per kilogram (mg/kg) every other week for 24 weeks.
| Study group | Role | What they receive |
|---|---|---|
| Alglucosidase Alfa | Experimental | Not described Receives: Biological: Alglucosidase Alfa |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change From Baseline in Tissue Glycogen Content in Quadriceps Muscle Biopsy Samples at Week 26
Tissue glycogen content was measured by quadriceps biopsies as 'percent area of tissue occupied by glycogen'.
Measured: Baseline, Week 26
Secondary outcomes (6)
Glycogen Distribution
Measured: Baseline, Week 26
Muscle Fiber Morphology
Measured: Baseline, Week 26
Lysosomal Inclusions
Measured: Baseline, Week 26
Percent Change From Baseline in Muscle Involvement Using Mercuri Scoring at Week 26
Muscle involvement was assessed by T1-weighted magnetic resonance imaging (MRI). T1-weighted MRI data was analyzed using the Mercuri scoring in both legs (Total score = 1-4; where 1=Normal appearance, 2=Mild involvement, 3=Moderate involvement, and 4=Severe involvement). For each participants, the average for each the upper (thigh) and lower leg was computed for Mercuri grading.
Measured: Baseline, Week 26
Percent Change From Baseline in Degree of Fatty Infiltration Using 3-Point 3-Dimensional (3D) Dixon at Week 26
Degree of Fatty Infiltration was assessed by 3-point 3D Dixon acquisition using skeletal muscle MRI in a subset of participants.
Measured: Baseline, Week 26
Percent Change From Baseline in Disease Activity Using T2 Magnetic Resonance Imaging (MRI) at Week 26
Disease activity (inflammation and/or water content within muscles) was quantitatively assessed by T2 MRI values in a subset of participants. A T2 MRI value of greater than (>) 39 millisecond (ms) was defined as abnormal. T2 estimation normally requires an additional acquisition for computing the B1 spatial deviation however, can still be estimated if this acquisition is missing.
Measured: Baseline, Week 26
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Feb 2011 (estimated)
- Study startJun 2011
- Primary completionDec 2013
- Study completionDec 2013
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Pompe Disease (Late-Onset)Studies of the same condition, open and under way.
- 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
- Interventional
- Phase
- Phase 4
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 16 participants (actual)
Sponsor and investigators
- Lead sponsor
- Genzyme, a Sanofi Company
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Medical Monitor, Study director, Genzyme, a Sanofi Company
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01288027
- Sponsor's protocol ID
- AGLU07310
- Other IDs
- 2010-020611-36, MSC12823
- Status last verified
- Dec 2014
- First submitted
- 27 Jan 2011
- Last updated
- 19 Dec 2014
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- Yes
Publications
van der Ploeg A, Carlier PG, Carlier RY, Kissel JT, Schoser B, Wenninger S, Pestronk A, Barohn RJ, Dimachkie MM, Goker-Alpan O, Mozaffar T, Pena LD, Simmons Z, Straub V, Guglieri M, Young P, Boentert M, Baudin PY, Wens S, Shafi R, Bjartmar C, Thurberg BL. Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study. Mol Genet Metab. 2016 Sep;119(1-2):115-23. doi: 10.1016/j.ymgme.2016.05.013. Epub 2016 May 19.
PubMed 27473031
Study at a glance
From the registry record, last updated by the sponsor on 19 Dec 2014. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Phase 4 Prospective Exploratory Muscle Biopsy, Biomarker, and Imaging Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa
- ClinicalTrials.gov ID
- NCT01288027
- Acronym / sponsor ID
- AGLU07310
- Conditions
- Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD II), Glycogenesis 2 Acid Maltase Deficiency
- Phase
- Phase 4
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 16 participants (actual)
- Lead sponsor
- Genzyme, a Sanofi CompanyIndustry (pharma, biotech, devices)
- Study start
- Jun 2011
- Primary completion
- Dec 2013 (actual)
- Study completion
- Dec 2013 (actual)
- First posted
- 2 Feb 2011 (estimated)
- Results
- Posted 2 Dec 2014
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This is an open-label, multicenter study of participants with late-onset Pompe disease naive to treatment with enzyme replacement therapy (ERT). The primary objective of this study is to evaluate glycogen clearance in muscle tissue samples collected pre and post alglucosidase alfa treatment in participants with Late-Onset Pompe disease.
The secondary objectives are to characterize the disease burden in participants with late-onset Pompe disease and explore imaging, histologic, and functional assessments in these participants and to explore potential plasma or urine biomarkers relative to late-onset Pompe disease and participant's response to treatment with alglucosidase alfa (Myozyme®/Lumizyme®/GZ419829).
Study design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Alglucosidase Alfa | Experimental | Biological: Alglucosidase Alfa |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (4 listed)
- The participant has confirmed acid alpha-glucosidase (GAA) enzyme deficiency from any tissue source and/or confirmed GAA gene mutations and without known cardiac hypertrophy
- The participant is able to ambulate a distance without stopping and without an assistive device. Use of assistive device for community ambulation is appropriate
- The participant has a certain forced vital capacity (FVC) in upright position
- The participant, if female and of childbearing potential, must have a negative pregnancy test (urine beta-human chorionic gonadotropin [beta-hCG]) at baseline
Key exclusion criteria (6 listed)
- The participant has had previous treatment with ERT
- The participant is wheelchair dependent
- The participant requires invasive-ventilation (non-invasive ventilation is allowed)
- The participant is participating in another clinical study using investigational treatment
- The participant cannot submit to magnetic resonance imaging (MRI) examination because of a formal contraindication such as a pacemaker, implanted ferromagnetic metals, etc
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 |
|---|---|---|
| Alglucosidase AlfaAlso: GZ419829, Myozyme®, Lumizyme®Alglucosidase alfa intravenous infusion 20 milligram per kilogram (mg/kg) every other week for 24 weeks. | Biological | Alglucosidase Alfa |
Primary outcome
Change From Baseline in Tissue Glycogen Content in Quadriceps Muscle Biopsy Samples at Week 26
Time frame: Baseline, Week 26
Tissue glycogen content was measured by quadriceps biopsies as 'percent area of tissue occupied by glycogen'.
6 secondary outcomes
Glycogen Distribution
Time frame: Baseline, Week 26
Muscle Fiber Morphology
Time frame: Baseline, Week 26
Lysosomal Inclusions
Time frame: Baseline, Week 26
Percent Change From Baseline in Muscle Involvement Using Mercuri Scoring at Week 26
Time frame: Baseline, Week 26
Percent Change From Baseline in Degree of Fatty Infiltration Using 3-Point 3-Dimensional (3D) Dixon at Week 26
Time frame: Baseline, Week 26
Percent Change From Baseline in Disease Activity Using T2 Magnetic Resonance Imaging (MRI) at Week 26
Time frame: Baseline, Week 26
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Dec 2014.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Derived from this study: PubMed 27473031van der Ploeg A, Carlier PG, Carlier RY, Kissel JT, Schoser B, Wenninger S, Pestronk A, Barohn RJ, Dimachkie MM, Goker-Alpan O, Mozaffar T, Pena LD, Simmons Z, Straub V, Guglieri M, Young P, Boentert M, Baudin PY, Wens S, Shafi R, Bjartmar C, Thurberg BL. Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study. Mol Genet Metab. 2016 Sep;119(1-2):115-23. doi: 10.1016/j.ymgme.2016.05.013. Epub 2016 May 19.
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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.
Medical Monitor study director
Genzyme, a Sanofi Company
15 sites in 4 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 4 study testing Alglucosidase Alfa in people with Pompe Disease (Late-Onset) and Glycogen Storage Disease Type II (GSD II), run by Genzyme, a Sanofi Company at 15 sites in 4 countries.
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 6 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: finished, as of the sponsor's last update on 19 Dec 2014. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 15 sites in United States, Germany, United Kingdom, Netherlands. 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.
What does this phase mean?
Phase 4 studies take place after a treatment is approved, to learn more about its long-term benefits and risks in everyday use.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Yes. Results are posted in the registry (first posted 2 Dec 2014). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change From Baseline in Tissue Glycogen Content in Quadriceps Muscle Biopsy Samples at Week 26 (time frame: Baseline, Week 26). 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 NCT01288027, 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 19 Dec 2014.