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Completed

NCT Number: NCT02765828

Identification of Tongue Involvement in Late-Onset Pompe Disease

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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Key information

Conditions

Myopathy Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Glycogen Storage Disease Glycogen Storage Disease Type II Glycogen Storage Disease Type II (Late-onset Pompe Disease) Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Muscular Diseases Musculoskeletal Diseases Nervous System Diseases Neuromuscular Diseases Neuropathy Nutritional and Metabolic Diseases

Age range

12 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Duke University Medical Center

Durham, North Carolina, 27710, United States

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

observational study

Other

The following exams will be done in all cohorts: tongue manual muscle testing (MMT), tongue quantitative muscle testing, tongue ultrasound measurements

Primary outcomes

  1. 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.

    • - Mild weakness. The tongue can be overcome with effort.
    • - Moderate weakness. Easy to overcome.
    • - Minimal movement. Unable to protrude to either side.
    • - No movement detected.

  2. Maximal lingual (tongue) strength measured via quantitative muscle testing (QMT) measured in kilopascals (KPA)

    Time frame: Day 1

Secondary outcomes

  1. 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.

  2. 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).

Sponsors and collaborators

Lead sponsor

Duke University

Other

Collaborators

  • Genzyme, a Sanofi Company

Registry information

Official study title

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

Important dates

Study start
2016
Primary completion
2019
Study completion
2019
First posted
May 9, 2016
Registry last updated
Jul 6, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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