Glycogen Storage Disease Type IINCT00077662
A Prospective, Observational Study in Patients With Late-Onset Pompe Disease
An observational study of Glycogen Storage Disease Type II, run by Genzyme, a Sanofi Company at 5 sites in 3 countries.
Trial summary
Pompe disease (also known as glycogen storage disease type II, "GSD-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 8 years and older
- Conditions the study is for
- Glycogen Storage Disease Type II
- How many people
- 61 participants
- Where
- 5 sitesin 3 countries
- Study dates
- Mar 2004to Jan 2006
- 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 8 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Late-Onset Patients diagnosed with Pompe Disease
Who may be able to join
- The patient must provide signed, informed consent prior to performing any study-related procedures.
- The patient must have a diagnosis of Pompe disease based upon: a) documented marked deficiency of GAA activity by muscle biopsy, skin fibroblasts, or leukocytes OR b) documented GAA gene mutation by deoxyribonucleic acid (DNA) analysis
- The patient must be greater than 8 years of age if enrolled at a site in the U.S. and greater than 18 years of age if enrolled at a site in Europe
- The patient must have documented onset of symptoms of Pompe disease after 12 months of age
- The patient must have at least 3 testable muscle groups in the arms and 3 testable muscle groups in the legs using quantitative muscle testing
- The patient must be able to perform pulmonary and muscle function testing in the supine position
- The patient must be able to provide reproducible muscle and pulmonary function test results within 10% of each other performed on Day 1 and Day 2 of the Screening/Baseline visit and forced vital capacity measurements within 10% of each other performed in the upright position on Day 1 and Day 2 of the Screening/Baseline visit
- The patient must have the ability to comply with the clinical protocol
Who cannot join
- The patient is unable to ambulate (use of assistive devices, such as walker, cane, crutches, is permitted);
- The patient requires the use of invasive ventilatory support.
- The patient requires the use of noninvasive ventilatory support during waking hours.
- The patient has received enzyme replacement therapy with acid alpha-glucosidase from any source
- The patient has received an investigational drug within 30 days prior to study enrollment, or is currently enrolled in another study which involves clinical evaluations
- The patient has a medical condition, serious intercurrent illness, or other extenuating circumstance that, in the opinion of the Investigator, may significantly interfere with study compliance including all prescribed evaluations and follow-up activities
- The patient has a major congenital abnormality
- For female patients only, the patient is pregnant or lactating, or is unwilling to practice birth control methods during the course of the study
Trial locations and contacts
5 sites in 3 countries.
5 sites in 3 countries
United States3 sites
Children's Hospital & Regional Medical Center
Seattle, Washington, 98105
School of Medicine, Campus Box 8111
St Louis, Missouri, 63110
Children's Hospital Medical Center
Washington D.C., District of Columbia, 20010
France1 site
Institut de Myologie, Groupe Hospitalier Pitie-Salpetriere, Batimant Babinski
Paris, CEDEX 13
About this study
Pompe disease (also known as glycogen storage disease type II, "GSD-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.
This study is being conducted to collect prospective, observational data on patients with late-onset Pompe disease. Approximately 60 subjects with late-onset Pompe disease will be enrolled.
- Conditions
- Glycogen Storage Disease Type II
- Keywords
- Pompe Disease, Glycogen Storage Disease Type II, GSD-II, Acid Maltase Deficiency Disease, Glycogenosis 2
- Medical subject headings
- Glycogen Storage Disease Type II
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Feb 2004 (estimated)
- Study startMar 2004
- Primary completionMay 2005
- Study completionJan 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
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 61 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
- NCT00077662
- Sponsor's protocol ID
- AGLU02303
- Other IDs
- "LOPOS"
- Status last verified
- May 2015
- First submitted
- 10 Feb 2004
- Last updated
- 5 May 2015
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 May 2015. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Prospective, Observational Study in Patients With Late-Onset Pompe Disease
- ClinicalTrials.gov ID
- NCT00077662
- Acronym / sponsor ID
- AGLU02303
- Conditions
- Glycogen Storage Disease Type II
- Keywords
- Pompe Disease, Glycogen Storage Disease Type II, GSD-II, Acid Maltase Deficiency Disease, Glycogenosis 2
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 61 participants (actual)
- Lead sponsor
- Genzyme, a Sanofi CompanyIndustry (pharma, biotech, devices)
- Study start
- Mar 2004
- Primary completion
- May 2005 (actual)
- Study completion
- Jan 2006 (actual)
- First posted
- 12 Feb 2004 (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, "GSD-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.
This study is being conducted to collect prospective, observational data on patients with late-onset Pompe disease. Approximately 60 subjects with late-onset Pompe disease will be enrolled.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 8 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Late-Onset Patients diagnosed with Pompe Disease
Key inclusion criteria (8 listed)
- The patient must provide signed, informed consent prior to performing any study-related procedures.
- The patient must have a diagnosis of Pompe disease based upon: a) documented marked deficiency of GAA activity by muscle biopsy, skin fibroblasts, or leukocytes OR b) documented GAA gene mutation by deoxyribonucleic acid (DNA) analysis
- The patient must be greater than 8 years of age if enrolled at a site in the U.S. and greater than 18 years of age if enrolled at a site in Europe
- The patient must have documented onset of symptoms of Pompe disease after 12 months of age
- The patient must have at least 3 testable muscle groups in the arms and 3 testable muscle groups in the legs using quantitative muscle testing
Key exclusion criteria (8 listed)
- The patient is unable to ambulate (use of assistive devices, such as walker, cane, crutches, is permitted);
- The patient requires the use of invasive ventilatory support.
- The patient requires the use of noninvasive ventilatory support during waking hours.
- The patient has received enzyme replacement therapy with acid alpha-glucosidase from any source
- The patient has received an investigational drug within 30 days prior to study enrollment, or is currently enrolled in another study which involves clinical evaluations
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
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 May 2015.
Related trials for Glycogen Storage Disease Type II
Active, not recruiting
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis
Recruiting
Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
Rare Genetic Muscle Diseases, Muscular Dystrophy, Duchenne
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
RecruitingObservational study
Pompe Disease Registry Protocol
Glycogen Storage Disease Type II, Pompe Disease
Not yet recruitingObservational study
MENA/Levant Epidemiological, Registry of Immunological & Clinical Traits (MERIT)
Antiphospholipid (aPL)-Positive, Rheumatic Arthritis
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
5 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Glycogen Storage Disease Type II, run by Genzyme, a Sanofi Company at 5 sites in 3 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 8 inclusion and 8 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 May 2015. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in United States, France, 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.
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.
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 5 May 2015.