Pompe Disease (Late-onset)Phase 2NCT00250939
A Study of rhGAA in Patients With Late-Onset Pompe Disease
A Phase 2 study testing Myozyme in people with Pompe Disease (Late-onset) and Glycogen Storage Disease Type II (GSD-II), run by Genzyme, a Sanofi Company at 1 site in Netherlands.
Trial summary
Pompe disease (also known as glycogen storage disease Type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA is used by the body's cells to break down glycogen (a stored form of sugar) within specialized structures called lysosomes. Read more about this study
- Who is it for?
- Ages 5 to 18 years
- Conditions the study is for
- Pompe Disease (Late-onset), Glycogen Storage Disease Type II (GSD-II), Acid Maltase Deficiency Disease
- What is being tested?
- Myozyme
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 5 participants
- Where
- 1 siteNetherlands
- Study dates
- Feb 2005to Nov 2006
- Phase
- Phase 2
- 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 5 to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- patient's legally authorized guardian(s) must provide signed, informed consent prior to performing any study-related procedures; patient's signature required if patient understands informed consent
- patient must have a diagnosis of Pompe disease based on deficient endogenous GAA activity or GAA gene mutations
- patient must have demonstrable muscle weakness
- patient must be greater than or equal to five years of age and younger than eighteen years of age
- patient must be able to provide 3 reproducible FVC tests in sitting position during screening
- patient must perform muscle function testing
- patient must ambulate 10 meters (assistive devices permitted)
- patient and legal guardian must comply with the clinical protocol
Who cannot join
- patient requires the use of invasive ventilatory support
- patient requires the use of noninvasive ventilatory support while awake and in an upright position
- patient has received enzyme replacement therapy with GAA from any source
- patient has used an investigational product within 30 days prior to study enrollment, or is currently enrolled in another clinical or observational study
- patient has a medical condition, serious intercurrent illness, or other extenuating circumstance that, may significantly interfere with study compliance, including all prescribed evaluations and follow-up activities
- Female patients pregnant, lactating or unwilling to practice birth control methods during study
- Male patients unwilling to use barrier contraceptives during study
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Single-center, Open-label Study of Safety, Pharmacokinetics and Efficacy of rhGAA in Patients With Late-Onset Pompe Disease
Pompe disease (also known as glycogen storage disease Type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA is used by the body's cells to break down glycogen (a stored form of sugar) within specialized structures called lysosomes. In patients with Pompe disease, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. The overall objective is to evaluate the safety, pharmacokinetics (PK) and efficacy of Myozyme treatment.
- Conditions
- Pompe Disease (Late-onset), Glycogen Storage Disease Type II (GSD-II), Acid Maltase Deficiency Disease, Glycogenosis 2
- Being tested
- Myozyme
- Keywords
- Glycogen Storage Disease Type II, GSD-II, Pompe Disease
- 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.
MyozymeBiological
Also called alglucosidase alfa
20 mg/kg qow
| Study group | Role | What they receive |
|---|---|---|
| 1 | Experimental | Not described Receives: Biological: Myozyme |
What is being measured
The primary outcome is the main question the study is designed to answer.
safety and PK profile rhGAA
Measured: 74 weeks
FVC
Measured: 74 weeks
MMT
Measured: 74 weeks
Effect of treatment on muscle function
Measured: 74 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Nov 2005 (estimated)
- Study startFeb 2005
- Primary completionJul 2006
- Study completionNov 2006
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- 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 2
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 5 participants (actual)
Sponsor and investigators
- Lead sponsor
- Genzyme, a Sanofi Company
- Sponsor type
- Industry (pharma, biotech, devices)
- Investigators
- Medical Monitor, Study director, Genzyme, a Sanofi Company
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00250939
- Sponsor's protocol ID
- AGLU02804
- Status last verified
- Feb 2014
- First submitted
- 8 Nov 2005
- Last updated
- 6 Feb 2014
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Feb 2014. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Single-center, Open-label Study of Safety, Pharmacokinetics and Efficacy of rhGAA in Patients With Late-Onset Pompe Disease
- ClinicalTrials.gov ID
- NCT00250939
- Acronym / sponsor ID
- AGLU02804
- Conditions
- Pompe Disease (Late-onset), Glycogen Storage Disease Type II (GSD-II), Acid Maltase Deficiency Disease, Glycogenosis 2
- Keywords
- Glycogen Storage Disease Type II, GSD-II, Pompe Disease
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 5 participants (actual)
- Lead sponsor
- Genzyme, a Sanofi CompanyIndustry (pharma, biotech, devices)
- Study start
- Feb 2005
- Primary completion
- Jul 2006 (actual)
- Study completion
- Nov 2006 (actual)
- First posted
- 9 Nov 2005 (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.
Pompe disease (also known as glycogen storage disease Type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA is used by the body's cells to break down glycogen (a stored form of sugar) within specialized structures called lysosomes. In patients with Pompe disease, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. The overall objective is to evaluate the safety, pharmacokinetics (PK) and efficacy of Myozyme treatment.
Study design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 1 | Experimental | Biological: Myozyme |
Who may qualify
- Ages
- 5 to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (8 listed)
- patient's legally authorized guardian(s) must provide signed, informed consent prior to performing any study-related procedures; patient's signature required if patient understands informed consent
- patient must have a diagnosis of Pompe disease based on deficient endogenous GAA activity or GAA gene mutations
- patient must have demonstrable muscle weakness
- patient must be greater than or equal to five years of age and younger than eighteen years of age
- patient must be able to provide 3 reproducible FVC tests in sitting position during screening
Key exclusion criteria (7 listed)
- patient requires the use of invasive ventilatory support
- patient requires the use of noninvasive ventilatory support while awake and in an upright position
- patient has received enzyme replacement therapy with GAA from any source
- patient has used an investigational product within 30 days prior to study enrollment, or is currently enrolled in another clinical or observational study
- patient has a medical condition, serious intercurrent illness, or other extenuating circumstance that, may significantly interfere with study compliance, including all prescribed evaluations and follow-up activities
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 |
|---|---|---|
| MyozymeAlso: alglucosidase alfa20 mg/kg qow | Biological | 1 |
Primary outcome
safety and PK profile rhGAA
Time frame: 74 weeks
FVC
Time frame: 74 weeks
MMT
Time frame: 74 weeks
Effect of treatment on muscle function
Time frame: 74 weeks
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Feb 2014.
Related trials for Pompe Disease (Late-onset)
Active, not recruiting
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis
RecruitingObservational study
Pompe Disease Registry Protocol
Glycogen Storage Disease Type II, Pompe Disease
Not yet recruitingPhase 2
An Extension Study of S-606001 in Participants With Late-onset Pompe Disease (LOPD)
Pompe Disease
RecruitingPhase 1/2
A Study to Evaluate Safety, Tolerability, and Efficacy of AB-1009 Gene Therapy (GAA Gene) in Adult Participants With Late-Onset Pompe Disease (PROGRESS-GT LOPD)
Pompe Disease (Late-onset), Pompe Disease Late-Onset
Active, not recruiting
A Study About Antibody Levels and Biomarkers in the Blood in People With Late-onset Pompe Disease
Pompe Disease (Late-onset)
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
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Myozyme in people with Pompe Disease (Late-onset) and Glycogen Storage Disease Type II (GSD-II), run by Genzyme, a Sanofi Company at 1 site in Netherlands.
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 8 inclusion and 7 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 6 Feb 2014. 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 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 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
safety and PK profile rhGAA (time frame: 74 weeks). The study lists 4 primary outcomes in all. 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 6 Feb 2014.