Clinical Trial: Identification of Tongue Involvement in Late-Onset Pompe Disease

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Determining the Diagnostic Utility of the Identification of Tongue Involvement in Late-Onset Pompe Disease (LOPD)

Brief Summary: This purpose of this study is to determine if tongue strength and tongue ultrasound measurements differentiates patients with untreated late-onset Pompe Disease (LOPD) from patients with acquires/hereditary myopathies or neuropathies. It is hypothesized that abnormalities in tongue function and structure in patients with LOPD may be useful in discriminating this condition from others that have similar presentations.

Detailed Summary:
Sponsor: Duke University

Current Primary Outcome:

  • Maximal lingual (tongue) strength measured via manual muscle testing (MMT) measured via ordinal scale (see description) [ Time Frame: Day 1 ]

    Lingual strength will be rated with a validated 0-4 ordinal scale.

    Score Description

    0 - Normal strength, no weakness.

    1. - Mild weakness. The tongue can be overcome with effort.
    2. - Moderate weakness. Easy to overcome.
    3. - Minimal movement. Unable to protrude to either side.
    4. - No movement detected.
  • Maximal lingual (tongue) strength measured via quantitative muscle testing (QMT) measured in kilopascals (KPA) [ Time Frame: Day 1 ]


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Maximal muscle thickness measured with ultrasound assessment in millimeters (mm) [ Time Frame: Day 1 ]
    Comprises part of assessment of lingual (tongue) structure via qualitative tongue ultrasound assessment. On-screen calipers will be used to perform measurement.
  • Echo intensity measured with ultrasound assessment utilizing grayscale analysis [ Time Frame: Day 1 ]
    Comprises part of assessment of lingual (tongue) structure via qualitative tongue ultrasound assessment. Echo intensity measurements consist of drawing a box over subcutaneous tissue and muscle areas of interest using the grayscale histogram function. This number will be recorded along with the standard deviation (grayscale analysis).


Original Secondary Outcome: Same as current

Information By: Duke University

Dates:
Date Received: April 22, 2016
Date Started: May 2016
Date Completion: April 2019
Last Updated: March 29, 2017
Last Verified: March 2017