Identification of Tongue Involvement in Late-Onset Pompe Disease

NCT02765828 | Completed

• 1 other identifier: Pro00068729
• Study Type: observational
• Target: 73
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Outcome Measures

Primary Outcomes (2)

• 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. 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.

  Day 1

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

  Day 1

Secondary Outcomes (2)

• Maximal muscle thickness measured with ultrasound assessment in millimeters (mm)

  Day 1

• Echo intensity measured with ultrasound assessment utilizing grayscale analysis

  Day 1

Study Arms (3)

Late-Onset Pompe Disease

Other: Observational study

Acquired/Hereditary Myopathy

Other: Observational study

Neuropathy

Other: Observational study

Interventions

Observational study OTHER

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

Acquired/Hereditary Myopathy; Late-Onset Pompe Disease; Neuropathy

Eligibility Criteria

• Age: 12 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• age ≥ 12 years
• confirmed diagnosis of LOPD and naïve to enzyme-replacement therapy (ERT)
• neuropathy (e.g., peripheral neuropathy, cranial neuropathy, autonomic neuropathy, focal neuropathy)

You may not qualify if:

• 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

Sponsors & Collaborators

• Duke University: lead
• Genzyme, a Sanofi Company: collaborator

Study Sites (1)

Duke University Medical Center

Durham, North Carolina, 27710, United States

Location

MeSH Terms

Conditions

Muscular Diseases; Glycogen Storage Disease Type II

Interventions

Observation

Condition Hierarchy (Ancestors)

Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Methods; Investigative Techniques

Study Officials

• Harrison Jones, PhD

  Division of Head and Neck Surgery & Communication Sciences, Duke University Medical Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 22, 2016
• First Posted: May 9, 2016
• Study Start: May 25, 2016
• Primary Completion: July 15, 2019
• Study Completion: July 15, 2019
• Last Updated: July 6, 2021

Record last verified: 2021-07

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)