A Study of Respiratory Muscle Strength, including Effort-Independent Measures, in Subjects with Late-Onset Pompe Disease - BMN701-201

BioMarin Pharmaceutical Inc.0 个研究点目标入组 5 人开始时间: 待定最近更新: 2024年2月28日

适应症

试验速览

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•* 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

•* 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.

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