Congenital myasthenic syndromes (CMS) Musculoskeletal Diseases
Conditions
Interventions
This is an observational exploratory study, conducted within the Oxford CMS clinic appointment, forming part of routine patient care. This study is expected to last for 24 months, with recruitment in
Sponsors
Oxford University Hospitals NHS Trust
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Participants with a confirmed genetic diagnosis of CMS, who are referred to the Oxford CMS service for their clinical management 2. 0-100 years of age 3. Participant is willing and able to give informed consent for participation in the study 4. The participant must be able to understand written and spoken English 5. Able to attend clinic every 6 months for face-to-face assessment with a physiotherapist
Exclusion criteria
Exclusion criteria: 1. Non-CMS medically or psychological conditions that may affect the OCMs, as judged by the medical team 2. Participants not compliant/unable to attend regular reviews in Oxford 3. Participants involved in other CMS research (e.g. novel therapies), which may impact the study assessments
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Muscle fatigue measured using the following assessments: Quantitative Myasthenia Gravis (QMG) score at baseline, 6, 12 and 18 months | — |
Secondary
| Measure | Time frame |
|---|---|
| Measured at baseline, 6, 12 and 18 months: 1. Muscle fatigue measured using the following assessments: Sit-to-stand in One Minute (STS1M), 10-metre run (10m run), 6-Minute Walk Test (6MWT) and stairs climb (ascend and descend) 2. Activity levels monitored between clinic visits using a wrist-worn accelerometer device (AX3), worn for 7 days post visit and a patient self-assessment diary, completing arm outstretched and STS1M daily at home for 7 days 3. Patient-reported outcome measures: 3.1. Mental wellbeing measured using the Hospital Anxiety and Depression Scale (HADS) 3.2. Physical health measured using EQ-5D-5L 3.3. Participation measured using Myasthenia Gravis Activities of Daily Living (MG-ADL) 4. For children under 4 years of age, motor skill is measured using the CHOP-INTEND and WHO motor milestones 5. The impact on caregivers of supporting an individual with CMS will be measured using the Care Giver Indirect and Informal Care Cost Assessment Questionnaire, completed once in the study by the participant's carer, parent, guardian, or partner (with their direct consent) | — |
Countries
England, United Kingdom
Outcome results
None listed