Pompe DiseaseSTIGNCT02824068
Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months (STIG-Pompe-Study)
An observational study of Pompe Disease, run by LMU Klinikum at 3 sites in 3 countries.
Trial summary
Long-term outcome in late-onset Pompe disease treated beyond 36 months (ATBIG-Pompe-Study), a multicenter, multinational, longitudinal, non-interventional observational study in subjects, at least 8 years old, diagnosed with late-onset Pompe disease retrospectively and prospectively collects data to understand… Read more about this study
- Who is it for?
- Ages 8 years and older
- Conditions the study is for
- Pompe Disease
- What is being tested?
- glucosidase alfa
- How many people
- 112 participants
- Where
- 3 sitesin 3 countries
- Study dates
- 1 Jun 2016to 31 Dec 2020
- 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 Pompe patients, aged over 8 years with at least 36 months of glucosiase alfa treatment
Who may be able to join
- Late-onset Pompe patients, aged over 8 years.
- The patient is willing and able to provide signed informed consent.
- The patient (and patient's legal guardian if patient is under 18 years of age) must have the ability to comply with the clinical protocol.
- Long-term Myozyme treatment beyond 36 months.
- Known GAA genotype.
- GAA activity (Dried blood spot testing, or other methods).
Who cannot join
- - The patient is concurrently participating in another clinical study using Myozyme or other treatment.
- The patient, in the opinion of the Investigator, is unable to adhere to the requirements of the study.
- The patient has clinically significant organic disease (with the exception of symptoms relating to 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, precludes participation in the study or potentially decreases survival.
Trial locations and contacts
3 sites in 3 countries.
3 sites in 3 countries
Germany1 site
Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen Munich, Germany
Munich, Bavaria, 80336
Italy1 site
5. Department of Clinical and Experimental Medicine, Reference Center for Rare Neuromuscular Disorders, University of Messina, Italy
Messina, Sicily, 98125
About this study
Official title: Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months
Long-term outcome in late-onset Pompe disease treated beyond 36 months (ATBIG-Pompe-Study), a multicenter, multinational, longitudinal, non-interventional observational study in subjects, at least 8 years old, diagnosed with late-onset Pompe disease retrospectively and prospectively collects data to understand clinical progression in terms of muscle and respiratory function, and clinical symptomology treated with alglucosidase alfa more than 36 months in 100 subjects.
Read the detailed description
The presentation and course of late-onset Pompe disease is much less foreseeable than the classic infantile form. Some patients experience a rapid worsening in skeletal muscle function leading to loss of ambulation and respiratory failure, while others progress less rapidly. So there is a more inconstant response to treatment in skeletal muscle and lung function in the long-term. Therefore, an unmet clinical need is the collection and analysis of long-term data of rhGAA enzyme replacement therapy (ERT) in late-onset Pompe disease patient aged 8 years and older. The principal goal of our investigator driven study is to gain conclusive insight in long-term outcome data beyond 36 months up to 10 years of ERT treatment. In addition we will collect biological samples from all patients for a future biomarker study including gene modifier search by genome and RNA seq (not part of this proposal). This study may provide clinicians and researchers with a better understanding of late-onset Pompe disease under long-term treatment, to the benefit of all patients affected with late-onset Pompe disease, as well as, individuals and families with related diseases.
- Conditions
- Pompe Disease
- Being tested
- glucosidase 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.
glucosidase alfaDrug
Also called Myozyme
Long-term use in an observational study of licenced drug
What is being measured
The primary outcome is the main question the study is designed to answer.
change in muscle function
To evaluate the degree of change in muscle function over time in patients with Pompe disease. % change in the 6-minute walking test (normal 600m in six minutes) between 0, 6 and 12 months of the study
Measured: 12 months
Secondary outcomes (6)
data collection on survival, death and reason of deaths
data collection on survival, death and reason of deaths during the full study period
Measured: 12 months
changes in forced vital capacity (FVC)
To evaluate the degree of change in lung function over time in patients with Pompe disease by % change of FVC in sitting and supine body position between 0, 6, and 12 months of the study
Measured: 12 months
changes in minimal inspiratory pressure (MIP)
To evaluate the degree of change in lung function over time in patients with Pompe disease: % change in minimal inspiratory pressure between 0, 6 and 12months of the study
Measured: 12 months
changes in maximal expiratory pressure (MEP)
To evaluate the degree of change in lung function over time in patients with Pompe disease % change in maximal expiratory pressure between 0, 6 and 12months of the study
Measured: 12 months
changes in loss of ambulation
% of patients with loss of ambulation at 12 months of the study
Measured: 12 months
changes in Medical Research Council (MRC) Scale for Muscle Strength
% of patients with changes in 5-point MRC (scale data at 12 months of the study
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Jul 2016 (estimated)
- Study start1 Jun 2016
- Primary completion31 Dec 2019
- Study completion31 Dec 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pompe DiseaseStudies 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
- Case-control
- Time perspective
- Retrospective
- Enrolment
- 112 participants (actual)
Sponsor and investigators
- Lead sponsor
- LMU Klinikum
- Sponsor type
- University, hospital or other
- Collaborators
- Genzyme, a Sanofi Company
- Responsible party
- Principal investigator, Prof. Dr. Benedikt Schoser, LMU Klinikum
- Investigators
- Benedikt Schoser, MD, Principal investigator, Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen Munich, Germany
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02824068
- Sponsor's protocol ID
- Po001-STIG
- Acronym
- STIG
- Status last verified
- Feb 2021
- First submitted
- 20 Jun 2016
- Last updated
- 10 Feb 2021
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Yes: Patients have the right to get their own data set after the end of the study
Study at a glance
From the registry record, last updated by the sponsor on 10 Feb 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months
- ClinicalTrials.gov ID
- NCT02824068
- Acronym / sponsor ID
- STIG / Po001-STIG
- Conditions
- Pompe Disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 112 participants (actual)
- Lead sponsor
- LMU KlinikumUniversity, hospital or other
- Collaborators
- Genzyme, a Sanofi Company
- Study start
- 1 Jun 2016 (actual)
- Primary completion
- 31 Dec 2019 (actual)
- Study completion
- 31 Dec 2020 (actual)
- First posted
- 6 Jul 2016 (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.
Long-term outcome in late-onset Pompe disease treated beyond 36 months (ATBIG-Pompe-Study), a multicenter, multinational, longitudinal, non-interventional observational study in subjects, at least 8 years old, diagnosed with late-onset Pompe disease retrospectively and prospectively collects data to understand clinical progression in terms of muscle and respiratory function, and clinical symptomology treated with alglucosidase alfa more than 36 months in 100 subjects.
Detailed description
The presentation and course of late-onset Pompe disease is much less foreseeable than the classic infantile form. Some patients experience a rapid worsening in skeletal muscle function leading to loss of ambulation and respiratory failure, while others progress less rapidly. So there is a more inconstant response to treatment in skeletal muscle and lung function in the long-term. Therefore, an unmet clinical need is the collection and analysis of long-term data of rhGAA enzyme replacement therapy (ERT) in late-onset Pompe disease patient aged 8 years and older. The principal goal of our investigator driven study is to gain conclusive insight in long-term outcome data beyond 36 months up to 10 years of ERT treatment. In addition we will collect biological samples from all patients for a future biomarker study including gene modifier search by genome and RNA seq (not part of this proposal). This study may provide clinicians and researchers with a better understanding of late-onset Pompe disease under long-term treatment, to the benefit of all patients affected with late-onset Pompe disease, as well as, individuals and families with related diseases.
Study design
- Observational model
- Case-control
- Time perspective
- Retrospective
Who may qualify
- Ages
- 8 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Late-onset Pompe patients, aged over 8 years with at least 36 months of glucosiase alfa treatment
Key inclusion criteria (6 listed)
- Late-onset Pompe patients, aged over 8 years.
- The patient is willing and able to provide signed informed consent.
- The patient (and patient's legal guardian if patient is under 18 years of age) must have the ability to comply with the clinical protocol.
- Long-term Myozyme treatment beyond 36 months.
- Known GAA genotype.
Key exclusion criteria (3 listed)
- - The patient is concurrently participating in another clinical study using Myozyme or other treatment.
- The patient, in the opinion of the Investigator, is unable to adhere to the requirements of the study.
- The patient has clinically significant organic disease (with the exception of symptoms relating to 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, precludes participation in the study or potentially decreases survival.
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 |
|---|---|---|
| glucosidase alfaAlso: MyozymeLong-term use in an observational study of licenced drug | Drug | – |
Primary outcome
change in muscle function
Time frame: 12 months
To evaluate the degree of change in muscle function over time in patients with Pompe disease. % change in the 6-minute walking test (normal 600m in six minutes) between 0, 6 and 12 months of the study
6 secondary outcomes
data collection on survival, death and reason of deaths
Time frame: 12 months
changes in forced vital capacity (FVC)
Time frame: 12 months
changes in minimal inspiratory pressure (MIP)
Time frame: 12 months
changes in maximal expiratory pressure (MEP)
Time frame: 12 months
changes in loss of ambulation
Time frame: 12 months
changes in Medical Research Council (MRC) Scale for Muscle Strength
Time frame: 12 months
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 10 Feb 2021.
- Individual participant dataSharing planned: Yes. Patients have the right to get their own data set after the end of the study
Related trials for Pompe Disease
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Pompe Disease Registry Protocol
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Pompe Disease
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.
Benedikt Schoser, MD principal investigator
Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen Munich, Germany
3 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Pompe Disease, run by LMU Klinikum at 3 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 6 inclusion and 3 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 10 Feb 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in Germany, Italy, Taiwan. 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?
change in muscle function (time frame: 12 months). 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 10 Feb 2021.