Multisystem and Autonomic Complications of NMD on Long-term NIV

Royal Brompton & Harefield NHS Foundation Trust

Status

Completed

Conditions

Neuromuscular Diseases

Neurologic Disorder

Treatments

Other: No intervention used

Study type

Observational

Funder types

Other

Identifiers

NCT04100993

266270

Details and patient eligibility

About

This exploratory observational study evaluates autonomic function using measures including heart rate variability in adults with childhood-onset neuromuscular and neurological disorders (NMD) who use non-invasive ventilation (NIV) as part of their long-term care. Autonomic function will be correlated with measures of symptom burden, disease severity and complications.

Full description

Childhood-onset neuromuscular and neurological disorders (NMD) are a diverse group of rare conditions in which muscle function is significantly impaired. Due to progress in NMD management over recent decades, particularly the use of non-invasive ventilation (NIV) to treat chronic respiratory failure, many individuals are surviving into adulthood and even middle age. However, older individuals are developing potentially fatal complications related to the heart e.g. sudden cardiac death, gastrointestinal (GI) tract and increasing dependence on NIV.

Previous studies largely in children and adolescents suggest individuals with NMD may develop problems of the autonomic nervous system (ANS), a network of nerves vital to controlling the body's short-term responses to internal and external stimuli. It is likely some complications of NMD are related to ANS abnormalities.

This will be an exploratory observational study using a cross-sectional design in which non-invasive tools will be used to evaluate autonomic function during wake and sleep. Individuals over 16 years of age with a confirmed NMD diagnosis will be recruited. Derived parameters of autonomic function including heart rate variability will be compared to values from an exploratory reference group of age- and sex-matched healthy adults. Autonomic function will also be correlated to measures of symptom burden, complications, quality of life and disease severity. Qualitative methods will be used to further evaluate the experience and perceptions of adults with NMD in making decisions about their personal and medical care, which become more complex with increasing age and disease severity.

Enrollment

35 patients

Sex

All

Ages

16+ years old

Volunteers

Accepts Healthy Volunteers

Inclusion criteria

Patient group:

Age ≥16 years
Confirmed diagnosis of childhood-onset NMD
Able and willing to provide informed consent
Requires non-invasive ventilation on an intermittent or continuous basis to manage respiratory failure

Reference group:

Age ≥16 years
No significant co-morbidities
Not on any regular medications
Able and willing to provide informed consent

Exclusion criteria

Inability to travel to hospital site
Clinical instability or acute deterioration requiring hospitalisation or changes to medication in the previous 4 weeks
A female of child-bearing potential who is pregnant or intends to become pregnant during study involvement