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

Conditions: Therapeutic area: Diseases [C] - Musculoskeletal Diseases [C05]
MedDRA version: 18.0Level: LLTClassification code 10036143Term: Pompe's diseaseSystem Organ Class: 100000004850
Pompe disease

Registration Number: EUCTR2014-002158-38-FR

Lead Sponsor: BioMarin Pharmaceutical Inc

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Authorised-recruitment may be ongoing or finished

Sex: All

Target Recruitment: 15

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 or whole-blood assay
• At least 18 years of age at study entry
• Willing and able to comply with all study procedures
Are the trial subjects under 18? no
Number of subjects for this age range:
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range 15
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range 0

Exclusion Criteria

• Requires ventilatory support while awake and in the upright position
• Concurrent disease, medical condition, or extenuating circumstance that, in the opinion of the investigator, might compromise patient well-being, study completion, or data collection
• 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)

Study & Design

Study Type: Interventional clinical trial of medicinal product

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Main Objective: The primary objective of this study is to compare respiratory muscle strength values obtained using volitional techniques with values obtained using non-volitional techniques.;Secondary Objective: The secondary objective is to compare the change for these two sets of values after 24 weeks in subjects treated or not treated with BMN 701.;Primary end point(s): Volitional (effort-dependent) endpoints<br>Respiratory Muscle Strength<br>• MIP, MEP, and SNIP<br>• Sniff esophageal, sniff gastric, and sniff transdiaphragmatic (TDP) pressures<br><br>Non-volitional (effort-independent) endpoints (independent of subject aptitude, motivation, cooperation, or practice)<br>• Twitch Pdi<br>• Twitch Pga;Timepoint(s) of evaluation of this end point: Screening, Baseline, every 6 weeks during the 24-week treatment period;<br>every 12 weeks during the extension period

Secondary Outcome Measures