Clinical Trial: Screening in Oculopharyngeal Muscular Dystrophy

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Interventional

Official Title: Determination of Accurate Screening Tools for Dysphagia in Oculopharyngeal Muscular Dystrophy

Brief Summary:

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.

Detailed Summary: 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.
Sponsor: University of Florida

Current Primary Outcome:

  • Kinematic Swallowing Measurements will be used to analyze a normal movement of swallowing [ Time Frame: Baseline ]
    Kinematic swallowing measurements is an objective analysis of videofluoroscopy. This involves capturing and manipulating digital images with computer technology to make exact timing measures of bolus flow and movement of structures, as well as spatial measurements of distance and area against reference points.
  • The IOPI will be used to measure Lingual strength and endurance [ Time Frame: Baseline ]
    The Iowa Oral Pressure Instrument device will measure the peak performance of lingual strength a via the action of a bulb placed on the hard palate. To assess maximum anterior isometric pressure, the bulb will be placed on the roof of the mouth and the participant will raise his or her tongue to apply pressure to this bulb and then quickly release the tongue back into a neutral position. This repetitive tongue movement will be performed three times and values will be recorded.
  • The nebulizer with cough protocol will be used to measure reflexive cough [ Time Frame: Baseline ]
    Reflexive cough will be assessed using an oral pneumotachograph, differential pressure transducer, and have a side port with a one-way inspiratory valve for nebulizer connection. The nebulizer will deliver three randomized blocks of 0, 50, 100, 200, and 500 μM capsaicin.


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Global disease progression as confirmed by the ALS Functional Rating Scale-Revised (ALSFRS-R) [ Time Frame: Baseline ]
    The ALSFRS-R includes 12 questions. Each task is rated on a five-point scale from 0 = can't do, to 4 = normal ability. Individual item scores are summed to produce a reported score of between 0=worst and 48=best.
  • Participant perception of swallowing impairment as confirmed by Swallowing Quality of Life Questionnaire (SWAL-QOL) [ Time Frame: Baseline ]
    SWAL-QOL is a standardized psychometric scale measuring swallow-related QOL and containing 44-items relating to swallowing specific quality of life measured across 10 domains. Individual domain scores and a total SWAL-QOL score will be derived. Scores range from 0 to 100, with a score of 100 representing no impairment (the most favorable state)
  • Dietary intake as confirmed by Functional Oral Intake Scale (FOIS) [ Time Frame: Baseline ]

    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

  • Participant perception of swallowing related symptoms as confirmed by The Eating Assessment Tool 10 (EAT-10) [ Time Frame: Baseline ]
    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.
  • Participant perception of communication abilities as confirmed by Communication Effectiveness Survey [ Time Frame: Baseline ]
    A measure of self-rated communication abilities across a variety of settings as perceived by the patients and/or their caregivers will be measured using the 8-point Communication Effectiveness Survey (CES)
  • Bulbar function confirmed by the Center for Neurologic Studies Bulbar Function Scale (CNS-BFS) [ Time Frame: Baseline ]


Original Secondary Outcome: Same as current

Information By: University of Florida

Dates:
Date Received: August 19, 2016
Date Started: October 2016
Date Completion: October 2018
Last Updated: December 14, 2016
Last Verified: December 2016