Late-onset Pompe Disease
Conditions
Brief summary
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 .
Interventions
PROCEDURERespiratory muscle strength measurements by different techniques.
Sponsors
BioMarin Pharmaceutical
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Maximal Inspiratory Pressure (MIP) | Baseline, Week 28 | Pulmonary measure of change in maximal inspiratory pressure (MIP) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Maximal Expiratory Pressure (MEP) | Baseline, Week 28 | Pulmonary measure of change in maximal expiratory pressure (MEP) |
Countries
United Kingdom, United States
Participant flow
Participants by arm
| Arm | Count |
|---|---|
| Overall All subjects | 8 |
| Total | 8 |
Baseline characteristics
| Characteristic | Overall |
|---|---|
| Age, Categorical <=18 years | 0 Participants |
| Age, Categorical >=65 years | 0 Participants |
| Age, Categorical Between 18 and 65 years | 8 Participants |
| Ethnicity (NIH/OMB) Hispanic or Latino | 0 Participants |
| Ethnicity (NIH/OMB) Not Hispanic or Latino | 8 Participants |
| Ethnicity (NIH/OMB) Unknown or Not Reported | 0 Participants |
| Race/Ethnicity, Customized American Indian or Alaska Native | 0 Participants |
| Race/Ethnicity, Customized Asian | 0 Participants |
| Race/Ethnicity, Customized Black or African American | 0 Participants |
| Race/Ethnicity, Customized Native Hawaiian or Other Pacific Islander | 0 Participants |
| Race/Ethnicity, Customized Other | 0 Participants |
| Race/Ethnicity, Customized White | 8 Participants |
| Region of Enrollment United Kingdom | 7 Participants |
| Region of Enrollment United States | 1 Participants |
| Sex: Female, Male Female | 2 Participants |
| Sex: Female, Male Male | 6 Participants |
Adverse events
| Event type | EG000 affected / at risk |
|---|---|
| deaths Total, all-cause mortality | 0 / 8 |
| other Total, other adverse events | 1 / 8 |
| serious Total, serious adverse events | 0 / 8 |
Outcome results
Primary
Maximal Inspiratory Pressure (MIP)
Pulmonary measure of change in maximal inspiratory pressure (MIP)
Time frame: Baseline, Week 28
Population: Full Analysis Set (FAS) population includes all enrolled subjects who have at least one study assessment.
| Arm | Measure | Group | Value (MEAN) | Dispersion |
|---|---|---|---|---|
| Overall | Maximal Inspiratory Pressure (MIP) | Baseline | 49.2 cm H2O | Standard Deviation 21.7 |
| Overall | Maximal Inspiratory Pressure (MIP) | Last Visit | 46.0 cm H2O | Standard Deviation 20.93 |
| Overall | Maximal Inspiratory Pressure (MIP) | Change from Baseline | -5.5 cm H2O | Standard Deviation 8.38 |
Secondary
Maximal Expiratory Pressure (MEP)
Pulmonary measure of change in maximal expiratory pressure (MEP)
Time frame: Baseline, Week 28
Population: Full Analysis Set (FAS) population includes all enrolled subjects who have at least one study assessment.
| Arm | Measure | Group | Value (MEAN) | Dispersion |
|---|---|---|---|---|
| Overall | Maximal Expiratory Pressure (MEP) | Baseline | 77.1 cm H2O | Standard Deviation 32.39 |
| Overall | Maximal Expiratory Pressure (MEP) | Last Visit | 69.0 cm H2O | Standard Deviation 24.18 |
| Overall | Maximal Expiratory Pressure (MEP) | Change from Baseline | -11.6 cm H2O | Standard Deviation 11.35 |