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Identification of Tongue Involvement in Late-Onset Pompe Disease

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ClinicalTrials.gov Identifier: NCT02765828
Recruitment Status : Recruiting
First Posted : May 9, 2016
Last Update Posted : April 4, 2018
Sponsor:
Collaborator:
Genzyme, a Sanofi Company
Information provided by (Responsible Party):
Duke University

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.

Condition or disease Intervention/treatment
Myopathy Neuropathy Glycogen Storage Disease Type II (Late-onset Pompe Disease) Other: Observational study

Study Type : Observational
Estimated Enrollment : 70 participants
Observational Model: Case-Control
Time Perspective: Cross-Sectional
Official Title: Determining the Diagnostic Utility of the Identification of Tongue Involvement in Late-Onset Pompe Disease (LOPD)
Study Start Date : May 2016
Estimated Primary Completion Date : April 2019
Estimated Study Completion Date : April 2019


Group/Cohort Intervention/treatment
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

Acquired/Hereditary Myopathy Other: Observational study
The following exams will be done in all cohorts: tongue manual muscle testing (MMT), tongue quantitative muscle testing, tongue ultrasound measurements

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




Primary Outcome Measures :
  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.

    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.

  2. Maximal lingual (tongue) strength measured via quantitative muscle testing (QMT) measured in kilopascals (KPA) [ Time Frame: Day 1 ]

Secondary Outcome Measures :
  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).



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Ages Eligible for Study:   12 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Prospective participants must have a confirmed diagnosis of late-onset Pompe Disease, acquired/hereditary myopathy, or neuropathy.
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02765828


Contacts
Contact: Amy Walker amy.walker1@duke.edu
Contact: Kelly Crisp kelly.crisp@duke.edu

Locations
United States, North Carolina
Duke University Medical Center Recruiting
Durham, North Carolina, United States, 27710
Principal Investigator: Harrision Jones         
Sponsors and Collaborators
Duke University
Genzyme, a Sanofi Company
Investigators
Principal Investigator: Harrison Jones, PhD Division of Head and Neck Surgery & Communication Sciences, Duke University Medical Center

Responsible Party: Duke University
ClinicalTrials.gov Identifier: NCT02765828     History of Changes
Other Study ID Numbers: Pro00068729
First Posted: May 9, 2016    Key Record Dates
Last Update Posted: April 4, 2018
Last Verified: April 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:
Glycogen Storage Disease Type II
Glycogen Storage Disease
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Carbohydrate Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases