Identification of Tongue Involvement in Late-Onset Pompe Disease

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

73 participants

Study Classification

OBSERVATIONAL

Study Start Date

2016-05-25

Study Completion Date

2019-07-15

Brief Summary

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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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Detailed Description

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Conditions

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

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Late-Onset Pompe Disease

Observational study

Intervention Type 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

Observational study

Intervention Type OTHER

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

Neuropathy

Observational study

Intervention Type OTHER

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

Interventions

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Observational study

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

Intervention Type OTHER

Eligibility Criteria

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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

Minimum Eligible Age

12 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No