A Study of Respiratory Muscle Strength in Patients With Late-onset Pompe Disease (LOPD)

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

Study 701-201 is a study in patients with late-onset Pompe disease (LOPD). The study will test respiratory muscle strength initially and again after 24 weeks in subjects treated or not treated with BMN 701 .

Study Overview

• Status: Terminated
• Conditions: Late-onset Pompe Disease
• Intervention / Treatment: Procedure: Respiratory muscle strength measurements by different techniques.

• Study Type: Observational
• Enrollment (Actual): 8
• Phase: Phase 2

Contacts and Locations

Study Locations

• United Kingdom
  • London, United Kingdom, SW36NP
    • Royal Brompton Hospital
• United States
  • Florida
    • Gainesville, Florida, United States, 32610
      • University of Florida

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Fifteen subjects were planned for enrollment; there were no screening failures; 8 subjects were enrolled. Two subjects were enrolled from 701-301 and the remaining 6 subjects enrolled directly into 701-201 (no parent study)

Description

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 - 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
• Concurrent disease, medical condition, or extenuating circumstance that, in the opinion of the investigator, might compromise patient well-being, study completion, or data collection
• Allergy to tools or procedures used for respiratory muscle testing

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Measurement of Respiratory Muscle Strength	Procedure: Respiratory muscle strength measurements by different techniques.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Maximal Inspiratory Pressure (MIP)	Pulmonary measure of change in maximal inspiratory pressure (MIP)	Baseline, Week 28

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Maximal Expiratory Pressure (MEP)	Pulmonary measure of change in maximal expiratory pressure (MEP)	Baseline, Week 28

Collaborators and Investigators

• Sponsor: BioMarin Pharmaceutical
• Investigators: Study Director: Medical Monitor, MD, BioMarin Pharmaceutical

Study record dates

Study Major Dates

• Study Start (Actual): October 21, 2014
• Primary Completion (Actual): June 22, 2016
• Study Completion (Actual): June 22, 2016

Study Registration Dates

• First Submitted: July 15, 2014
• First Submitted That Met QC Criteria: July 15, 2014
• First Posted (Estimate): July 16, 2014

Study Record Updates

• Last Update Posted (Estimate): January 9, 2023
• Last Update Submitted That Met QC Criteria: April 11, 2022
• Last Verified: April 1, 2022

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Lysosomal Storage Diseases, Nervous System; Glycogen Storage Disease; Glycogen Storage Disease Type II
• Other Study ID Numbers: 701-201; 2014-002158-38 (EudraCT Number)