Clinical trial NCT02824068: Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months (STIG-Pompe-Study)
Official title: Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Pompe Disease
Lead sponsor: LMU Klinikum
Sponsor class: OTHER
Collaborators: name: Genzyme, a Sanofi Company
First posted: 2016-07-06
Enrollment: 112
Sex: ALL
Minimum age (years): 8
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_CONTROL
Time perspective: RETROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Late-onset Pompe patients, aged over 8 years with at least 36 months of glucosiase alfa treatment

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 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.

Eligibility 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.

Primary outcomes:
measure: change in muscle function
timeFrame: 12 months
Secondary outcomes:
measure: data collection on survival, death and reason of deaths
timeFrame: 12 months
measure: changes in forced vital capacity (FVC)
timeFrame: 12 months
measure: changes in minimal inspiratory pressure (MIP)
timeFrame: 12 months
measure: changes in maximal expiratory pressure (MEP)
timeFrame: 12 months
measure: changes in loss of ambulation
timeFrame: 12 months
measure: changes in Medical Research Council (MRC) Scale for Muscle Strength
timeFrame: 12 months
Other outcomes:
Locations:
city: Munich
country: Germany
facility: Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen Munich, Germany
state: Bavaria
city: Messina
country: Italy
facility: 5. Department of Clinical and Experimental Medicine, Reference Center for Rare Neuromuscular Disorders, University of Messina, Italy
state: Sicily
city: Taipei
country: Taiwan
facility: National Taiwan University Hospital Taipei
Study officials:
affiliation: Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen Munich, Germany
name: Benedikt Schoser, MD
role: PRINCIPAL_INVESTIGATOR
References: