Myotonic Dystrophy 1SwallowDM1NCT05865483
Profile of Dysphagia in Myotonic Dystrophy Type 1 (DM1)
An observational study of Myotonic Dystrophy 1 and Dysphagia, Oropharyngeal, run by University College, London at 1 site in United Kingdom.
Trial summary
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… Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Myotonic Dystrophy 1, Dysphagia, Oropharyngeal
- How many people
- 177 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 3 Jul 2023to 23 Aug 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
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).
Who may be able to join
- ≥18 years of age
- genetically confirmed of DM1
- able to eat \& drink at least five sips of liquid by mouth at one time.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
United Kingdom1 site
The National Hospital for Neurology & Neurosurgery, University College London Hospitals
London, WC1N 3BG
About this study
Official title: 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.
Read more
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
Read the 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).
- Conditions
- Myotonic Dystrophy 1, Dysphagia, Oropharyngeal
- Medical subject headings
- Myotonic Dystrophy, Deglutition Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 being measured
The primary outcome is the main question the study is designed to answer.
Swallowing muscle (geniohyoid) size
Measured: 16 months
Swallowing muscle (geniohyoid) structure
Measured: 16 months
Secondary outcomes (4)
Association between muscle (size and structure) and dynamic swallowing assessment (VFSS)
Measured: 16 months
Association between muscle (size and structure) and strength (Iowa Oral Performance Instrument & bite-force)
Measured: 16 months
Association between muscle (size and structure) and swallowing speed (timed water swallow test & timed test of mastication)
Measured: 16 months
Association between muscle (size and structure) and patient symptoms (Sydney Swallow Questionnaire & SWAL-QOL)
Measured: 16 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 May 2023
- Study start3 Jul 2023
- Primary completion23 Aug 2024
- Study completion23 Aug 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Myotonic Dystrophy 1Studies of the same condition, open and under way.
- More trials run by University College, LondonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 177 participants (actual)
Sponsor and investigators
- Lead sponsor
- University College, London
- Sponsor type
- University, hospital or other
- Collaborators
- National Institute for Health Research, United Kingdom, Myotonic Dystrophy Support Group, United Kingdom, National Hospital for Neurology and Neurosurgery
- Responsible party
- Sponsor
- Investigators
- Stuart Taylor, PhD, Principal investigator, University College London & University College London Hospitals
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05865483
- Sponsor's protocol ID
- 153848
- Acronym
- SwallowDM1
- Status last verified
- Aug 2025
- First submitted
- 9 May 2023
- Last updated
- 19 Aug 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
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.
PubMed 11171898
Study at a glance
From the registry record, last updated by the sponsor on 19 Aug 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Multidimensional Profile of Dysphagia in People Living With Myotonic Dystrophy Type 1 (plwDM1)
- ClinicalTrials.gov ID
- NCT05865483
- Acronym / sponsor ID
- SwallowDM1 / 153848
- Conditions
- Myotonic Dystrophy 1, Dysphagia, Oropharyngeal
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 177 participants (actual)
- Lead sponsor
- University College, LondonUniversity, hospital or other
- Collaborators
- National Institute for Health Research, United Kingdom, Myotonic Dystrophy Support Group, United Kingdom, National Hospital for Neurology and Neurosurgery
- Study start
- 3 Jul 2023 (actual)
- Primary completion
- 23 Aug 2024 (actual)
- Study completion
- 23 Aug 2024 (actual)
- First posted
- 18 May 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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 design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 5
| Arm | Type | Receives |
|---|---|---|
| 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) |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- 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).
Key inclusion criteria (3 listed)
- ≥18 years of age
- genetically confirmed of DM1
- able to eat \& drink at least five sips of liquid by mouth at one time.
Key exclusion criteria (4 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Swallowing muscle (geniohyoid) size
Time frame: 16 months
Swallowing muscle (geniohyoid) structure
Time frame: 16 months
4 secondary outcomes
Association between muscle (size and structure) and dynamic swallowing assessment (VFSS)
Time frame: 16 months
Association between muscle (size and structure) and strength (Iowa Oral Performance Instrument & bite-force)
Time frame: 16 months
Association between muscle (size and structure) and swallowing speed (timed water swallow test & timed test of mastication)
Time frame: 16 months
Association between muscle (size and structure) and patient symptoms (Sydney Swallow Questionnaire & SWAL-QOL)
Time frame: 16 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Aug 2025.
- Background: PubMed 11171898Mathieu 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Stuart Taylor, PhD principal investigator
University College London & University College London Hospitals
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Myotonic Dystrophy 1 and Dysphagia, Oropharyngeal, run by University College, London at 1 site in United Kingdom.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 19 Aug 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Swallowing muscle (geniohyoid) size (time frame: 16 months). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05865483, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Aug 2025.