Glycogen Storage Disease Type IIPhase 1/2NCT00053573
rhGAA in Patients With Infantile-onset Glycogen Storage Disease-II (Pompe Disease)
A Phase 1/2 study testing Myozyme in people with Glycogen Storage Disease Type II and Pompe Disease, run by Genzyme, a Sanofi Company at 6 sites in 4 countries.
Trial summary
Glycogen Storage Disease Type II ("GSD-II"; also known as Pompe disease) 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 6 to 36 months
- Conditions the study is for
- Glycogen Storage Disease Type II, Pompe Disease, Acid Maltase Deficiency Disease
- What is being tested?
- Myozyme
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 20 participants
- Where
- 6 sitesin 4 countries
- Study dates
- Feb 2003to Nov 2006
- Phase
- Phase 1/2
- 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 6 to 36 months
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- The patient or the patient's legal guardian(s) must provide written informed consent prior to any study-related procedures being performed
- The patient must have a clinical diagnosis of infantile GSD-II as defined by: (a) the patient has/had documented (in a medical record) onset of symptoms compatible with GSD-II by 12 months of age; (b) the patient has documented GAA deficiency as illustrated by an endogenous GAA activity less than or equal to 2% of the mean of the normal range as assessed in cultured skin fibroblasts; AND (c) the patient has a Left Ventricular Mass Index greater than 2 standard deviations above the mean for age
- The patient is greater than 6 months old and less than or equal to 36 months old at the time of the first dose of rhGAA
- The patient and his/her legal guardian(s) must have the ability to comply with the clinical protocol
Who cannot join
- Signs and symptoms of cardiac failure and an ejection fraction less than 40%
- Major congenital abnormality
- Clinically significant organic disease (with the exception of symptoms relating to GSD-II), including clinically significant cardiovascular, hepatic, pulmonary, neurologic, or renal disease, or other medical condition, serious intercurrent illness, or extenuating circumstance that, in the opinion of the Investigator, would preclude participation in the trial or potentially decrease survival
- Use of any investigational product within 30 days prior to study enrollment
- Received enzyme replacement therapy with GAA from any source
Trial locations and contacts
6 sites in 4 countries.
6 sites in 4 countries
United States3 sites
Children's Hospital Medical Center
Cincinnati, Ohio, 45229
Duke University Medical Center
Durham, North Carolina, 27710
University of Florida College of Medicine
Gainesville, Florida, 32610
United Kingdom1 site
Royal Manchester Children's Hospital
Manchester, M27 4 HA
About this study
Official title: An Open-Label, Multicenter, Multinational, Study of the Safety, Efficacy, Pharmacokinetics, and Pharmacodynamics of rhGAA Treatment in Patients Greater Than 6 Months and Less Than or Equal to 36 Months Old With Infantile-Onset GSD-II
Glycogen Storage Disease Type II ("GSD-II"; also known as Pompe disease) 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 GSD-II, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. This study is being conducted to evaluate the safety and effectiveness of recombinant human acid alpha-glucosidase (rhGAA) as a potential enzyme replacement therapy for GSD-II. Patients diagnosed with infantile-onset GSD-II who are greater than 6 months old, but less than or equal to 36 months old will be studied.
- Conditions
- Glycogen Storage Disease Type II, Pompe Disease, 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 to 40 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.
Evaluate the safety of Myozyme
Measured: 52 weeks
Determine proportion of patients alive over the course of treatment
Measured: 52 weeks
PK profile of MZ
Measured: 52 weeks
PD profile of MZ
Measured: 52 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Feb 2003 (estimated)
- Study startFeb 2003
- Primary completionJul 2006
- Study completionNov 2006
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 Glycogen Storage Disease Type IIStudies 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 1/2
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 20 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
- NCT00053573
- Sponsor's protocol ID
- AGLU01702
- Status last verified
- Feb 2014
- First submitted
- 31 Jan 2003
- Last updated
- 5 Feb 2014
- Results posted
- No
Publications
Kishnani PS, Goldenberg PC, DeArmey SL, Heller J, Benjamin D, Young S, Bali D, Smith SA, Li JS, Mandel H, Koeberl D, Rosenberg A, Chen YT. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab. 2010 Jan;99(1):26-33. doi: 10.1016/j.ymgme.2009.08.003.
PubMed 19775921
Study at a glance
From the registry record, last updated by the sponsor on 5 Feb 2014. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Open-Label, Multicenter, Multinational, Study of the Safety, Efficacy, Pharmacokinetics, and Pharmacodynamics of rhGAA Treatment in Patients Greater Than 6 Months and Less Than or Equal to 36 Months Old With Infantile-Onset GSD-II
- ClinicalTrials.gov ID
- NCT00053573
- Acronym / sponsor ID
- AGLU01702
- Conditions
- Glycogen Storage Disease Type II, Pompe Disease, Acid Maltase Deficiency Disease, Glycogenosis 2
- Keywords
- Glycogen Storage Disease Type II, GSD-II, Pompe Disease
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 20 participants (actual)
- Lead sponsor
- Genzyme, a Sanofi CompanyIndustry (pharma, biotech, devices)
- Study start
- Feb 2003
- Primary completion
- Jul 2006 (actual)
- Study completion
- Nov 2006 (actual)
- First posted
- 3 Feb 2003 (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.
Glycogen Storage Disease Type II ("GSD-II"; also known as Pompe disease) 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 GSD-II, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. This study is being conducted to evaluate the safety and effectiveness of recombinant human acid alpha-glucosidase (rhGAA) as a potential enzyme replacement therapy for GSD-II. Patients diagnosed with infantile-onset GSD-II who are greater than 6 months old, but less than or equal to 36 months old will be studied.
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
- 6 to 36 months
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (4 listed)
- The patient or the patient's legal guardian(s) must provide written informed consent prior to any study-related procedures being performed
- The patient must have a clinical diagnosis of infantile GSD-II as defined by: (a) the patient has/had documented (in a medical record) onset of symptoms compatible with GSD-II by 12 months of age; (b) the patient has documented GAA deficiency as illustrated by an endogenous GAA activity less than or equal to 2% of the mean of the normal range as assessed in cultured skin fibroblasts; AND (c) the patient has a Left Ventricular Mass Index greater than 2 standard deviations above the mean for age
- The patient is greater than 6 months old and less than or equal to 36 months old at the time of the first dose of rhGAA
- The patient and his/her legal guardian(s) must have the ability to comply with the clinical protocol
Key exclusion criteria (5 listed)
- Signs and symptoms of cardiac failure and an ejection fraction less than 40%
- Major congenital abnormality
- Clinically significant organic disease (with the exception of symptoms relating to GSD-II), including clinically significant cardiovascular, hepatic, pulmonary, neurologic, or renal disease, or other medical condition, serious intercurrent illness, or extenuating circumstance that, in the opinion of the Investigator, would preclude participation in the trial or potentially decrease survival
- Use of any investigational product within 30 days prior to study enrollment
- Received enzyme replacement therapy with GAA from any source
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 to 40 mg/kg qow | Biological | 1 |
Primary outcome
Evaluate the safety of Myozyme
Time frame: 52 weeks
Determine proportion of patients alive over the course of treatment
Time frame: 52 weeks
PK profile of MZ
Time frame: 52 weeks
PD profile of MZ
Time frame: 52 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 5 Feb 2014.
- Derived from this study: PubMed 19775921Kishnani PS, Goldenberg PC, DeArmey SL, Heller J, Benjamin D, Young S, Bali D, Smith SA, Li JS, Mandel H, Koeberl D, Rosenberg A, Chen YT. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab. 2010 Jan;99(1):26-33. doi: 10.1016/j.ymgme.2009.08.003.
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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
6 sites in 4 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing Myozyme in people with Glycogen Storage Disease Type II and Pompe Disease, run by Genzyme, a Sanofi Company at 6 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 5 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 5 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 6 sites in United States, France, Israel, United Kingdom. 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 combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
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?
Evaluate the safety of Myozyme (time frame: 52 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?
On the ClinicalTrials.gov record for NCT00053573, 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 5 Feb 2014.