Profile of Dysphagia in Myotonic Dystrophy Type 1 (DM1)

Study Overview
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Brief Summary
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The goal of this observational study is to learn about swallowing difficulties (dysphagia) in patients living with myotonic dystrophy type 1 (DM1). The main questions it aims to answer are: whether the size and structure of the muscles involved in swallowing differ to those without the disease how the size and structure of muscles may associate with swallowing function and swallowing symptoms in this group. Participants will undergo a range of tests including: Ultrasound (US) assessment of the muscles involved in swallowing An x-ray swallowing study (known as videofluoroscopy) Assessment of swallowing symptoms, including questionnaires Assessments of mobility, activity and breathing Assessments of quality of life and wellbeing

Detailed Description
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This study will explore swallowing difficulties (dysphagia) caused by Myotonic Dystrophy Type 1 (DM1). Dysphagia causes food, drink and saliva to travel onto the lungs (aspiration) and can lead to pneumonia. Aspiration pneumonia is frequent and accounts for over 40% of deaths in DM1. Dysphagia also causes fear and anxiety which can lead to permanent lifestyle changes. A better understanding of dysphagia in DM1 will improve our assessment and treatment and reduce its life-changing consequences. This research aims to define the dysphagia profile of people with DM1 (pwDM1) across the domains of structure, function, experience, and wellbeing by: Investigating the size and structure of muscles involved in swallowing in patients with and without DM1. Exploring how muscle size and structure are associated with i) swallowing function and ii) symptoms Exploring how swallowing function is associated with i) symptoms, ii) patient and caregiver wellbeing and iii) other aspects of DM1 such as walking and breathing. People aged 18+ with a confirmed diagnosis of DM1 will be invited to take part. Approximately 90 pwDM1 will be recruited. They will undergo a battery of tests including: Ultrasound (US) assessment of the muscles involved in swallowing An x-ray swallowing study (known as videofluoroscopy) Assessment of swallowing symptoms, including questionnaires Assessments of mobility, activity and breathing Assessments of quality of life and wellbeing A sub-group of 20 pwDM1 will also undergo magnetic resonance imaging (MRI) of the muscles involved in swallowing to examine in detail the changes in seen on ultrasound. Approximately 60 people without DM1 will act as a control group for the US assessments. Primary caregivers of those with DM1 will be invited to complete a wellbeing questionnaire. Data will be analysed using statistical methods and findings will be used to develop clinical practice recommendations for the assessment and treatment of dysphagia in DM1. This study is part of an NIHR-funded clinical doctoral research fellowship (CDRF) and will take place at The National Hospital for Neurology and Neurosurgery (NHNN) in London. The maximum timescale for the study from opening recruitment to data collection of the final participant is 18 months (approx. 1st April 2023 - 30th September 2024).

Official Title
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A Multidimensional Profile of Dysphagia in People Living With Myotonic Dystrophy Type 1 (plwDM1)

Conditions
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Myotonic Dystrophy 1, Dysphagia, Oropharyngeal

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: i) Patients: i) ≥18 years of age ii) genetically confirmed of DM1 iii) able to eat & drink at least five sips of liquid by mouth at one time. ii) Controls: Muscle composition alters with gender and age (Power et al 2013), controls will be gender and age-matched (+5/-5 years) and recruited via participant (gene-negative) family member and hospital colleagues. iii) Caregivers: Primary caregivers >18 years of age spending at least one mealtime daily assisting with a person with DM1 already enrolled in this study. Exclusion Criteria: i) Patients: i) any condition or treatment other than DM1 that potentially influences swallowing muscle composition or function (e.g., a history of stroke or throat cancer). ii) any patients who are pregnant iii) patients with congenital or childhood DM1 iv) patient who are not able to eat or drink anything by mouth. ii) Controls: Any condition or treatment that potentially influences swallowing muscle composition or function (e.g., a history of stroke or throat cancer). iii) Caregivers: Any condition or treatment that potentially influences a person's ability to complete a handwritten questionnaire (e.g. cognitive impairment, lack of sufficient understanding of the English language).

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Participant group: mild disease<br>Muscle impairment rating score (MIRS) (Mathieu et al., 2001) 1-2 (n=30) | |
| Participant group: moderate disease<br>Muscle impairment rating score (MIRS) (Mathieu et al., 2001) 3 (n=30) | |
| Participant group: severe disease<br>Muscle impairment rating score (MIRS) (Mathieu et al., 2001) 4-5 (n=30) | |
| Control group<br>No disease (n=60) age and sex-matched | |
| Caregiver group<br>Spends at least one mealtime daily assisting with a person with DM1 already enrolled in the study. Expect ratio of 1:2 caregiver:participant (approx n=45) | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Swallowing muscle (geniohyoid) size |  | 16 months | 
| Swallowing muscle (geniohyoid) structure |  | 16 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Association between muscle (size and structure) and dynamic swallowing assessment (VFSS) |  | 16 months | 
| Association between muscle (size and structure) and strength (Iowa Oral Performance Instrument & bite-force) |  | 16 months | 
| Association between muscle (size and structure) and swallowing speed (timed water swallow test & timed test of mastication) |  | 16 months | 
| Association between muscle (size and structure) and patient symptoms (Sydney Swallow Questionnaire & SWAL-QOL) |  | 16 months |