Profile of Dysphagia in Myotonic Dystrophy Type 1 (DM1) (SwallowDM1)

August 14, 2025 updated by: University College, London

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

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

Study Overview

Status

Completed

Conditions

Detailed Description

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).

Study Type

Observational

Enrollment (Actual)

177

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

United Kingdom
- - London, United Kingdom, WC1N 3BG
    - The National Hospital for Neurology & Neurosurgery, University College London Hospitals

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

Adult
Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Adults with DM1, with and without reported swallowing difficulties, and relevant (age and sex-matched) controls. To ensure a spectrum of disease, participants will be recruited to one of three groups (mild, moderate, severe) according to the severity of their neuromuscular disability. Participants with DM1 must be taking food/drink by mouth (minimum five sips of fluid at a time).

Description

Participants with DM1

Inclusion:

≥18 years of age
genetically confirmed of DM1
able to eat & drink at least five sips of liquid by mouth at one time.

Exclusion:

any condition or treatment other than DM1 that potentially influences swallowing muscle composition or function (e.g., a history of stroke or throat cancer).
any patients who are pregnant
patients with congenital or childhood DM1
patients who are not able to eat or drink anything by mouth.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Number of groups / cohorts

Cohorts and Interventions

Group / Cohort
Participant group: mild disease Muscle impairment rating score (MIRS) (Mathieu et al., 2001) 1-2 (n=30)
Participant group: moderate disease Muscle impairment rating score (MIRS) (Mathieu et al., 2001) 3 (n=30)
Participant group: severe disease Muscle impairment rating score (MIRS) (Mathieu et al., 2001) 4-5 (n=30)
Control group No disease (n=60) age and sex-matched
Caregiver group 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?

Primary Outcome Measures

Outcome Measure	Time Frame
Swallowing muscle (geniohyoid) size Time Frame: 16 months	16 months
Swallowing muscle (geniohyoid) structure Time Frame: 16 months	16 months

Secondary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University College, London

Collaborators

National Institute for Health Research, United Kingdom

Myotonic Dystrophy Support Group, United Kingdom

The National Brain Appeal, The National Hospital for Neurology and Neurosurgery

Investigators

Principal Investigator: Stuart Taylor, PhD, University College London & University College London Hospitals

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Mathieu J, Boivin H, Meunier D, Gaudreault M, Begin P. Assessment of a disease-specific muscular impairment rating scale in myotonic dystrophy. Neurology. 2001 Feb 13;56(3):336-40. doi: 10.1212/wnl.56.3.336.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

July 3, 2023

Primary Completion (Actual)

August 23, 2024

Study Completion (Actual)

August 23, 2024

Study Registration Dates

First Submitted

May 9, 2023

First Submitted That Met QC Criteria