Screening in Oculopharyngeal Muscular Dystrophy

Determination of Accurate Screening Tools for Dysphagia in Oculopharyngeal Muscular Dystrophy

Oculopharyngeal muscular dystrophy (OPMD) is a rare myopathic disease that results in progressive degeneration of the oral and pharyngeal muscular, resulting in severe dysphagia and dysarthria. OPMD is considered a rare disease; therefore, limited research is available on the natural progression of the disease or the utility of biomarkers to identify swallowing impairment. The aim of this study is:

1. To identify accurate, reliable and non-invasive clinical markers of swallowing impairment
2. To determine the discriminate ability of these markers to identify impairments in swallow safety and swallowing efficiency.

Study Overview

• Status: Completed
• Conditions: Oculopharyngeal Muscular Dystrophy
• Intervention / Treatment: Other: Functional Oral Intake Scale; Other: Eating Assessment Tool-10; Procedure: Videofluoroscopic swallowing study

Detailed Description

Participants will be recruited from the Neurology clinic at the University of Florida. The single evaluation will occur in the PIs research laboratory at the University of Florida, Gainesville, Florida.

• Study Type: Observational
• Enrollment (Actual): 8

Contacts and Locations

Study Locations

• United States
  • Florida
    • Gainesville, Florida, United States, 32610
      • University of Florida

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 16 years to 78 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

The sample population will consist of individuals with a diagnosis of oculopharyngeal muscular dystrophy.

Description

Inclusion Criteria:

• diagnosis of oculopharyngeal muscular dystrophy
• no allergies to barium or capsaicin,
• no tracheotomy or mechanical ventilation
• no significant concurrent respiratory disease (e.g., COPD).

Exclusion Criteria:

• Pregnant Women

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort

Intervention / Treatment

Screening; Participants enrolled will undergo testing of the swallowing mechanism

Other: Functional Oral Intake Scale; The Functional Oral Intake Scale (FOIS) will be used for participants to report their food intake habits.; Other Names: FOIS; Other: Eating Assessment Tool-10; The Eating Assessment Tool-10 will be used for participant reporting of swallowing system severity.; Other Names: EAT-10; Procedure: Videofluoroscopic swallowing study; Videofluoroscopic swallowing study will be performed to measure the oropharyngeal swallowing.; Other Names: VFSS; modified barium swallow (MBS)

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Dynamic Imaging Grade of Swallowing Toxicity	Global Metric of swallowing Safety and Efficiency	Baseline

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Participant perception of swallowing related symptoms as confirmed by The Eating Assessment Tool 10 (EAT-10)	EAT-10 is a 10-item validated self-administered dysphagia severity symptom survey. Score is 0 - 40 with 0 being the best possible score and 40 the worst possible score.	Baseline
Dietary intake as confirmed by Functional Oral Intake Scale (FOIS)	FOIS is a validated 7-point scale indexing an individual's ability to intake food on a day-to-day basis. TUBE DEPENDENT (levels 1-3) No oral intake Tube dependent with minimal/inconsistent oral intake Tube supplements with consistent oral intake TOTAL ORAL INTAKE (levels 4-7) Total oral intake of a single consistency Total oral intake of multiple consistencies requiring special preparation Total oral intake with no special preparation, but must avoid specific foods or liquid items Total oral intake with no restrictions	Baseline

Collaborators and Investigators

• Sponsor: University of Florida
• Investigators: Principal Investigator: Emily Plowman, PhD, University of Florida

Study record dates

Study Major Dates

• Study Start: October 1, 2016
• Primary Completion (Actual): August 1, 2017
• Study Completion (Actual): August 1, 2017

Study Registration Dates

• First Submitted: August 19, 2016
• First Submitted That Met QC Criteria: August 19, 2016
• First Posted (Estimate): August 24, 2016

Study Record Updates

• Last Update Posted (Actual): March 27, 2020
• Last Update Submitted That Met QC Criteria: March 25, 2020
• Last Verified: March 1, 2020

More Information

Terms related to this study

• Keywords: screening; dysphagia; dysarthria; OPMD
• Additional Relevant MeSH Terms: Nervous System Diseases; Genetic Diseases, Inborn; Musculoskeletal Diseases; Muscular Diseases; Neuromuscular Diseases; Muscular Disorders, Atrophic; Muscular Dystrophies; Muscular Dystrophy, Oculopharyngeal
• Other Study ID Numbers: IRB201601374

Drug and device information, study documents

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