Profile of Dysphagia in Myotonic Dystrophy Type 1 (DM1)

NCT05865483 | Completed DMC

• 1 other identifier: 153848
• Study Type: observational
• Target: 177
• Locations: 1 country
• Sites: 1

Brief 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 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

Conditions

Myotonic Dystrophy 1; Dysphagia, Oropharyngeal

Outcome Measures

Primary Outcomes (2)

• Swallowing muscle (geniohyoid) size

  16 months

• Swallowing muscle (geniohyoid) structure

  16 months

Secondary Outcomes (4)

• 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

Study Arms (5)

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)

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• 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).

You may qualify if:

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

You may not qualify if:

• 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.

Sponsors & Collaborators

• University College, London: lead
• National Institute for Health Research, United Kingdom: collaborator
• Myotonic Dystrophy Support Group, United Kingdom: collaborator
• The National Brain Appeal, The National Hospital for Neurology and Neurosurgery: collaborator

Study Sites (1)

The National Hospital for Neurology & Neurosurgery, University College London Hospitals

London, WC1N 3BG, United Kingdom

Location

Related Publications (1)

• 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.

  PMID: 11171898 BACKGROUND

MeSH Terms

Conditions

Myotonic Dystrophy; Deglutition Disorders

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Myotonic Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Esophageal Diseases; Gastrointestinal Diseases; Digestive System Diseases; Pharyngeal Diseases; Otorhinolaryngologic Diseases

Study Officials

• Stuart Taylor, PhD

  University College London & University College London Hospitals

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 9, 2023
• First Posted: May 18, 2023
• Study Start: July 3, 2023
• Primary Completion: August 23, 2024
• Study Completion: August 23, 2024
• Last Updated: August 19, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will not share

Locations

GB (1)