Identification of Tongue Involvement in Late-Onset Pompe Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT02765828
Recruitment Status : Recruiting
First Posted : May 9, 2016
Last Update Posted : April 4, 2018
Genzyme, a Sanofi Company
Information provided by (Responsible Party):
Duke University

April 22, 2016
May 9, 2016
April 4, 2018
May 2016
April 2019   (Final data collection date for primary outcome measure)
  • 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 ]
Same as current
Complete list of historical versions of study NCT02765828 on Archive Site
  • 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).
Same as current
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Identification of Tongue Involvement in Late-Onset Pompe Disease
Determining the Diagnostic Utility of the Identification of Tongue Involvement in Late-Onset Pompe Disease (LOPD)
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.
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Observational Model: Case-Control
Time Perspective: Cross-Sectional
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Non-Probability Sample
Prospective participants must have a confirmed diagnosis of late-onset Pompe Disease, acquired/hereditary myopathy, or neuropathy.
  • Myopathy
  • Neuropathy
  • Glycogen Storage Disease Type II (Late-onset Pompe Disease)
Other: Observational study
The following exams will be done in all cohorts: tongue manual muscle testing (MMT), tongue quantitative muscle testing, tongue ultrasound measurements
  • Late-Onset Pompe Disease
    Intervention: Other: Observational study
  • Acquired/Hereditary Myopathy
    Intervention: Other: Observational study
  • Neuropathy
    Intervention: Other: Observational study
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*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Same as current
April 2019
April 2019   (Final data collection date for primary outcome measure)

Inclusion Criteria:

  • age ≥ 12 years
  • confirmed diagnosis of LOPD and naïve to enzyme-replacement therapy (ERT)
  • acquired/hereditary myopathy (e.g., dermatomyositis, polymyositis, inclusion body myositis, limb-girdle muscular dystrophy, distal myopathy, myotonic muscular dystrophy, and other myopathy)
  • neuropathy (e.g., peripheral neuropathy, cranial neuropathy, autonomic neuropathy, focal neuropathy)

Exclusion Criteria:

  • current use, history within the past two years of use, or eligible but declined use of Lumizyme® enzyme replacement therapy (applicable to LOPD group)
  • history of stroke, Parkinson's disease, oculopharyngeal muscular dystrophy, head and neck cancer or radiation treatment to head/neck, or other conditions that commonly affect lingual strength
  • inability to follow directions for study participation
Sexes Eligible for Study: All
12 Years and older   (Child, Adult, Older Adult)
Contact: Amy Walker
Contact: Kelly Crisp
United States
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Plan to Share IPD: No
Duke University
Duke University
Genzyme, a Sanofi Company
Principal Investigator: Harrison Jones, PhD Division of Head and Neck Surgery & Communication Sciences, Duke University Medical Center
Duke University
April 2018