Glycogen Storage Disease Type IINCT00074932
Expanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Late-onset Pompe Disease
A study testing Myozyme in people with Glycogen Storage Disease Type II and Glycogenosis 2, run by Genzyme, a Sanofi Company at 8 sites in United States.
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?
- Any age
- Conditions the study is for
- Glycogen Storage Disease Type II, Glycogenosis 2
- What is being tested?
- Myozyme
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 9 participants
- Where
- 8 sitesUnited States
- Study dates
- Nov 2004to Dec 2006
- Phase
- Interventional
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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 has/had onset of symptoms compatible with Pompe disease after 12 months of age. Age at onset of symptoms must be documented in the patient's medical record(s).
- The patient has documented GAA deficiency consistent with a diagnosis of Pompe disease, or the patient has a confirmed diagnosis of Pompe disease by documented genotype. Tissues used for determination of GAA deficiency may include blood, muscle or skin fibroblasts.
- The patient must have the following conditions: a. The patient must be wheelchair bound (unable to ambulate with the use of assistive devices, such as walker, cane, or crutches) AND b. The patient requires the use of invasive ventilation (defined as the use of any form of ventilatory support applied through an endotracheal tube).
- Female patients of childbearing potential must have a documented negative pregnancy test prior to dosing each month. In addition, all female patients of childbearing potential must use a medically accepted method of contraception throughout the program. Male patients who are sexually active must use a barrier method of contraception.
Who cannot join
- Use of any investigational product within 30 days prior to program enrollment.
- Major congenital abnormality;
- Clinically significant organic disease (with the exception of symptoms relating to late-onset Pompe disease), 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 study or potentially decrease survival.
- The patient meets the clinical characteristics described in the inclusion criteria for participation in other Genzyme Corporation-sponsored treatment study currently enrolling patients with late-onset Pompe disease.
Trial locations and contacts
8 sites in 1 country.
8 sites in 1 country
United States8 sites
Colorado Health Science Center
Aurora, Colorado
The Women's and Children's Hospital of Buffalo
Buffalo, New York
Genzyme Medical Information
Cambridge, Massachusetts, 02142
Freeman Health Systems
Joplin, Missouri
North Shore University Hospital
Manhasset, New York
Riverside Regional Medical Center
Newport News, Virginia
Macoumb/Oakland Adult Medicine
Rochester Hills, New York
Galichia Heart Hospital
Wichita, Kansas
About this study
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 objective of this protocol is to provide enzyme replacement therapy with alglucosidase alfa on an expanded access basis, to severely affected patients with late-onset Pompe disease for whom there is no alternative treatment and who do not meet the clinical characteristics described in the inclusion criteria for participation in other Genzyme Corporation-sponsored studies currently enrolling patients with late-onset Pompe disease.
- Conditions
- Glycogen Storage Disease Type II, Glycogenosis 2
- Being tested
- Myozyme
- Keywords
- Glycogen Storage Disease Type II, GSD-II, Pompe Disease, Acid Maltase Deficiency 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
| Study group | Role | What they receive |
|---|---|---|
| 1 | Other | Not described Receives: Biological: Myozyme |
What is being measured
The primary outcome is the main question the study is designed to answer.
Provide ERT with Myozyme in severly affected patients with Late-onset Pompe disease
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 posted25 Dec 2003 (estimated)
- Study startNov 2004
- Primary completionAug 2006
- Study completionDec 2006
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- 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 N/A
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 9 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
- NCT00074932
- Sponsor's protocol ID
- AGLU02603
- Status last verified
- Feb 2014
- First submitted
- 23 Dec 2003
- Last updated
- 6 Feb 2014
- Results posted
- No
- Expanded access
- Available
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
- Expanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Late-onset Pompe Disease
- ClinicalTrials.gov ID
- NCT00074932
- Acronym / sponsor ID
- AGLU02603
- Conditions
- Glycogen Storage Disease Type II, Glycogenosis 2
- Keywords
- Glycogen Storage Disease Type II, GSD-II, Pompe Disease, Acid Maltase Deficiency Disease
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 9 participants (actual)
- Lead sponsor
- Genzyme, a Sanofi CompanyIndustry (pharma, biotech, devices)
- Study start
- Nov 2004
- Primary completion
- Aug 2006 (actual)
- Study completion
- Dec 2006 (actual)
- First posted
- 25 Dec 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.
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 objective of this protocol is to provide enzyme replacement therapy with alglucosidase alfa on an expanded access basis, to severely affected patients with late-onset Pompe disease for whom there is no alternative treatment and who do not meet the clinical characteristics described in the inclusion criteria for participation in other Genzyme Corporation-sponsored studies currently enrolling patients with late-onset Pompe disease.
Study design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 1 | Other | Biological: Myozyme |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (5 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 has/had onset of symptoms compatible with Pompe disease after 12 months of age. Age at onset of symptoms must be documented in the patient's medical record(s).
- The patient has documented GAA deficiency consistent with a diagnosis of Pompe disease, or the patient has a confirmed diagnosis of Pompe disease by documented genotype. Tissues used for determination of GAA deficiency may include blood, muscle or skin fibroblasts.
- The patient must have the following conditions: a. The patient must be wheelchair bound (unable to ambulate with the use of assistive devices, such as walker, cane, or crutches) AND b. The patient requires the use of invasive ventilation (defined as the use of any form of ventilatory support applied through an endotracheal tube).
- Female patients of childbearing potential must have a documented negative pregnancy test prior to dosing each month. In addition, all female patients of childbearing potential must use a medically accepted method of contraception throughout the program. Male patients who are sexually active must use a barrier method of contraception.
Key exclusion criteria (4 listed)
- Use of any investigational product within 30 days prior to program enrollment.
- Major congenital abnormality;
- Clinically significant organic disease (with the exception of symptoms relating to late-onset Pompe disease), 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 study or potentially decrease survival.
- The patient meets the clinical characteristics described in the inclusion criteria for participation in other Genzyme Corporation-sponsored treatment study currently enrolling patients with late-onset Pompe disease.
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 | Biological | 1 |
Primary outcome
Provide ERT with Myozyme in severly affected patients with Late-onset Pompe disease
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 6 Feb 2014.
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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
8 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Myozyme in people with Glycogen Storage Disease Type II and Glycogenosis 2, run by Genzyme, a Sanofi Company at 8 sites in United States.
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 5 inclusion and 4 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 8 sites in United States. 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?
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?
Provide ERT with Myozyme in severly affected patients with Late-onset Pompe disease (time frame: 52 weeks). 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.