Clinical Trial: Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months (ATBIG-Pompe-Study)

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months

Brief 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.

Detailed Summary: 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.
Sponsor: Klinikum der Universitaet Muenchen

Current 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


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • data collection on survival, death and reason of deaths [ Time Frame: 12 months ]
    data collection on survival, death and reason of deaths during the full study period
  • changes in forced vital capacity (FVC) [ Time Frame: 12 months ]
    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
  • changes in minimal inspiratory pressure (MIP) [ Time Frame: 12 months ]
    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
  • changes in maximal expiratory pressure (MEP) [ Time Frame: 12 months ]
    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
  • changes in loss of ambulation [ Time Frame: 12 months ]
    % of patients with loss of ambulation at 12 months of the study
  • changes in Medical Research Council (MRC) Scale for Muscle Strength [ Time Frame: 12 months ]
    % of patients with changes in 5-point MRC (scale data at 12 months of the study


Original Secondary Outcome: Same as current

Information By: Klinikum der Universitaet Muenchen

Dates:
Date Received: June 20, 2016
Date Started: June 2016
Date Completion: December 2017
Last Updated: July 5, 2016
Last Verified: June 2016