Imaging Assessment of Swallowing and Speech Muscles in Inclusion Body Myositis

Researchers will evaluate ultrasound and Magnetic Resonance Imaging (MRI) as imaging markers to diagnose bulbar involvement and dysphagia in patients with IBM.

Objectives

Primary Objectives:

* Evaluate neuromuscular ultrasound as an imaging marker for assessing the presence and evaluate the severity of dysphagia and bulbar involvement in IBM
* Evaluate MRI of the bulbar region as an imaging marker for assessing the presence and evaluate the severity of dysphagia and bulbar involvement in IBM

Secondary Objectives:

* Evaluate ultrasound elastography (USE) as an imaging tool for assessing muscle stiffness in patients with IBM and compare the findings to motor neuron disease and healthy control cohorts
* Evaluate which imaging modality could be used as an early indicator of dysphagia and bulbar involvement

Primary outcomes

• Bulbar Muscle Thickness Assessed by Neuromuscular Ultrasound [Day 1 (one-time study visit)]: Bulbar muscle thickness will be measured using B-mode neuromuscular ultrasound in short- and long-axis views.
• Bulbar Muscle Cross-Sectional Area Assessed by Neuromuscular Ultrasound [Day 1 (one-time study visit)]: Cross-sectional area of the assessed bulbar muscles will be measured using neuromuscular ultrasound.
• Bulbar Muscle Echogenicity Assessed by Quantitative Grayscale Ultrasound [Day 1 (one-time study visit)]: Bulbar muscle echogenicity will be evaluated using quantitative grayscale analysis of neuromuscular ultrasound images.
• Bulbar Muscle Echogenicity Assessed by the Heckmatt Grading Scale [Day 1 (one-time study visit)]: Bulbar muscle echogenicity will be assessed using the Heckmatt grading scale on neuromuscular ultrasound images. Scale 1-4, lower score better.
• Bulbar Muscle Volume Assessed by Magnetic Resonance Imaging [Day 1 (one-time study visit)]: Bulbar muscle volume will be measured from magnetic resonance imaging and reported in cubic centimeters (cm³).
• Bulbar Muscle Cross-Sectional Area Assessed by Magnetic Resonance Imaging [Day 1 (one-time study visit)]: Bulbar muscle cross-sectional area will be measured from magnetic resonance imaging and reported in square centimeters (cm²).
• Bulbar Muscle Fat Content Assessed by Magnetic Resonance Imaging [Day 1 (one-time study visit)]: Bulbar muscle fat content will be measured using magnetic resonance imaging and reported as a percentage (%).
• Tongue Muscle Stiffness Assessed by Ultrasound Elastography [Day 1 (one-time study visit)]: Tongue muscle stiffness will be quantitatively assessed using shear-wave ultrasound elastography.

Secondary outcomes

• Center for Neurologic Study Bulbar Function Scale Score [Day 1 (one-time study visit)]: Bulbar function will be assessed using the Center for Neurologic Study Bulbar Function Scale (CNS-BFS), a 21-item patient-reported questionnaire evaluating speech, swallowing, and salivation. Score ranging from 21 to 112, where a score of 21 indicates no symptoms of bulbar dysfunction.
• Neuromuscular Disease Swallowing Status Scale Score [Day 1 (one-time study visit)]: Swallowing function will be assessed using the Neuromuscular Disease Swallowing Status Scale (NdSSS), an 8-stage clinician-rated scale ranging from normal oral intake to complete dependence on non-oral feeding. Stage 8 represents normal function, while Stage 1 represents the most severe impairment.
• Eating Assessment Tool-10 Score [Day 1 (one-time study visit)]: Dysphagia symptoms and the symptoms impact on quality of life will be assessed using the 10-item Eating Assessment Tool (EAT-10). Total score ranges from 0 to 40, with a score of 3 or higher indicating a potential swallowing problem.
• Sydney Swallow Questionnaire Score [Day 1 (one-time study visit)]: Severity of oropharyngeal dysphagia symptoms will be assessed using the 17-item Sydney Swallow Questionnaire (SSQ). Score range 0 to 1,700, with higher scores indicating more severe swallowing problem.
• Maximum Tongue Strength Assessed by the Iowa Oral Performance Instrument [Day 1 (one-time study visit)]: Maximum tongue strength will be measured using the Iowa Oral Performance Instrument (IOPI). Three trials will be performed, and the highest pressure will be recorded in kilopascals (kPa).
• Tongue Endurance Assessed by the Iowa Oral Performance Instrument [Day 1 (one-time study visit)]: Tongue endurance will be measured using the Iowa Oral Performance Instrument (IOPI) as the amount of time, in seconds, the participant can maintain 50% of their maximum tongue pressure.
• Inclusion Body Myositis Functional Rating Scale Score [Day 1 (one-time study visit)]: Functional status in participants with inclusion body myositis will be assessed using the Inclusion Body Myositis Functional Rating Scale (IBMFRS), including swallowing-related function. Score ranges from 0 to 40, higher score better.
• Amyotrophic Lateral Sclerosis Functional Rating Scale Score [Day 1 (one-time study visit)]: Functional disability and disease severity in participants with amyotrophic lateral sclerosis will be assessed using the Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS). Score ranges from 0 (maximum disability/worst performance) to 48 (normal function).

Sex: All, ages: 18 Years to any, accepts healthy volunteers

Inclusion Criteria:

* Participants must have a confirmed diagnosis of inclusion body myositis (IBM), amyotrophic lateral sclerosis (ALS), primary lateral sclerosis (PLS), or myopathy in accordance with the respective diagnostic criteria.
* Participants with disease must have clinically relevant laboratory testing for disease biomarkers (e.g., Creatine Kinase (CK), Comprehensive Metabolic Panel (CMP), Complete Blood Count (CBC)) within the last 12 months.
* Participants must be able to remain supine for 30 minutes or longer and cannot have significant breathing difficulties.
* Healthy controls must not have any neuromuscular disease.

Exclusion Criteria:

* Unable or unwilling to provide written informed consent.
* Medical history or clinically significant physical examination or laboratory results that, in the opinion of the investigator, would render the participant unsuitable for the study.
* Participants who are unlikely to comply with the study protocol or, in the opinion of the investigator, would not be a suitable candidate for participation in the study.
* Patients with IBM, ALS, or myopathy who have another known neuromuscular condition with known bulbar involvement.
* Any patient who has undergone a procedure for dysphagia, including myotomy, dilatation, or Botox.

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• Abdullah Z AlQahtani, MD MPH, Principal investigator, the Johns Hopkins School of Medicine