Pompe Disease Clinical Trial
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.
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. ;
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Completed |
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|
Phase 1/Phase 2 | |
| Not yet recruiting |
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N/A | |
| Completed |
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|
Phase 1/Phase 2 | |
| Recruiting |
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Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease
|
||
| Completed |
NCT01758354 -
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|
N/A | |
| Recruiting |
NCT00231400 -
Pompe Disease Registry Protocol
|
||
| Recruiting |
NCT04476550 -
Clinical Specimen Collection From Pompe Disease Patients
|
||
| Recruiting |
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Baby Detect : Genomic Newborn Screening
|
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| Completed |
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Drug-drug Interaction Study
|
Phase 2 | |
| Recruiting |
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Avalglucosidase Alfa Pregnancy Study
|
||
| Completed |
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Pompe Disease QMUS and EIM
|
N/A | |
| Terminated |
NCT02185651 -
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|
Phase 1 | |
| Completed |
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Safety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease.
|
N/A | |
| Completed |
NCT02405598 -
Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease
|
Phase 4 | |
| Completed |
NCT00701129 -
An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-naive Cross-Reacting Immunologic Material (CRIM[-]) Patients With Infantile-Onset Pompe Disease
|
Phase 4 | |
| Completed |
NCT01451879 -
Observational Study for Subjects With Pompe Disease Undergoing Immune Modulation Therapies
|
N/A | |
| Completed |
NCT02240407 -
Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease
|
Phase 1 | |
| Completed |
NCT05073783 -
A Study to Assess the Safety of Myozyme® and of Aldurazyme® in Male and Female Participants of Any Age Group With Pompe Disease or With Mucopolysaccharidosis Type I (MPS I) in a Home-care Setting
|
||
| Active, not recruiting |
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A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE)
|
Phase 1/Phase 2 | |
| Completed |
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Diet and Exercise in Pompe Disease
|
N/A |