Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months (STIG-Pompe-Study)

• Status: Completed
• Trial end date: 2020-12-31
• Target enrollment: 0
• Participant gender: All

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 clinical progression in terms of muscle and respiratory function, and clinical symptomology treated with alglucosidase alfa more than 36 months in 100 subjects.

• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Klinikum der Universitaet Muenchen; LMU Klinikum
• Collaborator: Genzyme, a Sanofi Company

Criteria

Inclusion Criteria:

• 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).

Exclusion Criteria:

• - 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.