A Study of Respiratory Muscle Strength, including Effort-Independent Measures, in Subjects with Late-Onset Pompe Disease

Recruitment & Eligibility

Status: Pending

Sex: Not specified

Target Recruitment: 5

Inclusion Criteria

* Willing and able to provide written informed consent, after the nature of the study has been explained, and prior to any study-related procedures
* Documented diagnosis with late-onset Pompe disease based on GAA gene mutations and/or endogenous GAA activity <75% of the lower limit of the normal adult range reported by the testing laboratory, assessed by dried blood spot, whole-blood, skin fibroblasts, or muscle biopsy
* At least 18 years of age at study entry
* Willing and able to comply with all study procedures

Exclusion Criteria

* Requires ventilatory support while awake and in the upright position. Subjects who require night time ventilator support may only enroll upon obtaining approval from the sponsor.
* Concurrent disease, medical condition, or extenuating circumstance that, in the opinion of the investigator, might compromise patient wellbeing,
study completion, or data collection.
- subjects with a diagnosis of asthma, chronic obstructive pulmonary disease, emphysema, or any other condition that may manifest with airway obstruction should be excluded, unless the subject has an FEV1/FVC ratio > 0.80 on spirometry (in another study or elsewhere) performed within 3 months in this study.
* Swallowing difficulty precluding balloon catheter placement (eg, esophageal strictures)
* Allergy to tools or procedures used for respiratory muscle testing
* Implanted ferrous metals (eg, cardiac pacemakers)
* Subjects taking medication for the treatment of obstructive lung disease (including, but not limited to, systemic or inhaled beta agonists, inhaled corticosteroids, or inhaled anticholinergic/anti-muscarinic agents) may not be enrolled in this study.
* Subjects who are pregnant, planning to become pregnant, or unable/unwilling to use effective contraception (as evaluated by the principal investigator) for the duration of the study.

Study & Design

Study Type: Observational non invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The primary objective of this study is to compare respiratory muscle strength<br /><br>values obtained using volitional techniques with values obtained using<br /><br>non-volitional techniques</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>The secondary objective is to compare the change for these two sets of values<br /><br>after 24 weeks in subjects treated or not treated with BMN 701.</p><br>

Related Trials