Identification of Tongue Involvement in Late-Onset Pompe Disease

Neuropathy Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02765828
• Other study ID #: Pro00068729
• Status: Completed
• Start date: May 25, 2016
• Est. completion date: July 15, 2019

Study information

• Verified date: July 2021
• Source: Duke University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 73
• Est. completion date: July 15, 2019
• Est. primary completion date: July 15, 2019
• Accepts healthy volunteers: No
• Gender: All
• Age group: 12 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Glycogen Storage Disease
• Glycogen Storage Disease Type II
• Glycogen Storage Disease Type II (Late-onset Pompe Disease)
• Myopathy
• Neuropathy

Intervention

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

Locations

Country	Name	City	State
United States	Duke University Medical Center	Durham	North Carolina

Sponsors (2)

Lead Sponsor	Collaborator
Duke University	Genzyme, a Sanofi Company

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	Maximal lingual (tongue) strength measured via quantitative muscle testing (QMT) measured in kilopascals (KPA)		Day 1
Secondary	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
Secondary	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