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.

Study Overview

• Status: Completed
• Conditions: Neuropathy; Myopathy; Glycogen Storage Disease Type II (Late-onset Pompe Disease)
• Intervention / Treatment: Other: Observational study

• Study Type: Observational
• Enrollment (Actual): 73

Contacts and Locations

Study Locations

• United States
  • North Carolina
    • Durham, North Carolina, United States, 27710
      • Duke University Medical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 12 years and older (ADULT, OLDER_ADULT, CHILD)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Prospective participants must have a confirmed diagnosis of late-onset Pompe Disease, acquired/hereditary myopathy, or neuropathy.

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

3

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Maximal lingual (tongue) strength measured via manual muscle testing (MMT) measured via ordinal scale (see description)	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.	Day 1
Maximal lingual (tongue) strength measured via quantitative muscle testing (QMT) measured in kilopascals (KPA)		Day 1

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Maximal muscle thickness measured with ultrasound assessment in millimeters (mm)	Comprises part of assessment of lingual (tongue) structure via qualitative tongue ultrasound assessment. On-screen calipers will be used to perform measurement.	Day 1
Echo intensity measured with ultrasound assessment utilizing grayscale analysis	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).	Day 1

Collaborators and Investigators

• Sponsor: Duke University
• Collaborators: Genzyme, a Sanofi Company
• Investigators: Principal Investigator: Harrison Jones, PhD, Division of Head and Neck Surgery & Communication Sciences, Duke University Medical Center

Study record dates

Study Major Dates

• Study Start (ACTUAL): May 25, 2016
• Primary Completion (ACTUAL): July 15, 2019
• Study Completion (ACTUAL): July 15, 2019

Study Registration Dates

• First Submitted: April 22, 2016
• First Submitted That Met QC Criteria: May 6, 2016
• First Posted (ESTIMATE): May 9, 2016

Study Record Updates

• Last Update Posted (ACTUAL): July 6, 2021
• Last Update Submitted That Met QC Criteria: July 2, 2021
• Last Verified: July 1, 2021

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Lysosomal Storage Diseases, Nervous System; Glycogen Storage Disease Type II; Glycogen Storage Disease
• Other Study ID Numbers: Pro00068729

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No