Myotonic Dystrophy 1 Clinical Trial
— SwallowDM1Official 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. 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
Status | Not yet recruiting |
Enrollment | 195 |
Est. completion date | September 30, 2024 |
Est. primary completion date | September 30, 2024 |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | All |
Age group | 18 Years and older |
Eligibility | 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). |
Country | Name | City | State |
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n/a |
Lead Sponsor | Collaborator |
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University College, London | Myotonic Dystrophy Support Group, United Kingdom, National Institute for Health Research, United Kingdom, The National Brain Appeal, The National Hospital for Neurology and Neurosurgery |
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. — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Swallowing muscle (geniohyoid) size | 16 months | ||
Primary | Swallowing muscle (geniohyoid) structure | 16 months | ||
Secondary | Association between muscle (size and structure) and dynamic swallowing assessment (VFSS) | 16 months | ||
Secondary | Association between muscle (size and structure) and strength (Iowa Oral Performance Instrument & bite-force) | 16 months | ||
Secondary | Association between muscle (size and structure) and swallowing speed (timed water swallow test & timed test of mastication) | 16 months | ||
Secondary | Association between muscle (size and structure) and patient symptoms (Sydney Swallow Questionnaire & SWAL-QOL) | 16 months |
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