Pompe Disease
Conditions
Keywords
Neuromuscular Ultrasound, Electrical Impedance Myography
Brief summary
Study Objectives: 1. Determine the correlation between quantitative muscle ultrasound (QMUS), electrical impedance myography (EIM) and currently accepted measures of physical function. 2. Determine the reliability of EIM measures performed in the home through use of a hand held device. 3. Determine if QMUS and EIM can detect pre-clinical changes in Pompe disease.
Interventions
DEVICEMuscle ultrasound
Ultrasound images of limb muscles will be collected.
A painless current passes through the skin and surface electrodes are used to record the impedance through muscle.
Sponsors
Genzyme, a Sanofi Company
Duke University
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
DEVICE_FEASIBILITY
Masking
SINGLE (Investigator)
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Genetically confirmed diagnosis of Pompe disease.
Exclusion criteria
* Age \<18 years * Inability to provide informed consent.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Percent change in muscle ultrasound echointensity as compared to baseline | Baseline, 1-2 years |
| Percent change in muscle electrical impedance myography as compared to baseline | Baseline, 1-2 years |
Secondary
| Measure | Time frame |
|---|---|
| Inter-rater reliability of muscle ultrasound and electrical impedance myography measures | 1-2 years |
Countries
United States
Outcome results
None listed