Clinical trial NCT04100993: Multisystem and Autonomic Complications of NMD on Long-term NIV
Official title: Growing up on Non-invasive Ventilation: Assessment of Multisystem and Autonomic Complications of Neuromuscular and Neurological Disorders in Young Adults
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Neuromuscular Diseases
Neurologic Disorder
Lead sponsor: Royal Brompton & Harefield NHS Foundation Trust
Sponsor class: OTHER
First posted: 2019-09-24
Enrollment: 35
Sex: ALL
Minimum age (years): 16
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_ONLY
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with a relevant NMD who attend adult Sleep and Ventilation services at the study site will be identified by the direct care team.

Healthy age- and sex-matched adults from the local community will be invited to participate by the research team.

Brief summary: 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.

Detailed 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.

Eligibility criteria: 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

Primary outcomes:
measure: Heart rate variability (HRV)
timeFrame: 1 day
Secondary outcomes:
measure: Baroreflex sensitivity (BRS)
timeFrame: 1 day
measure: Composite Autonomic Symptom Scale 31 questionnaire
timeFrame: 1 day
measure: Sydney Swallow Questionnaire
timeFrame: 1 day
measure: The European Quality of Life - 5 Dimensions questionnaire
timeFrame: 1 day
measure: Patient Assessment of Constipation Symptoms questionnaire
timeFrame: 1 day
measure: Individualized Neuromuscular Quality of Life Questionnaire
timeFrame: 1 day
measure: Severe Respiratory Insufficiency quality of life tool
timeFrame: 1 day
measure: Forced Expiratory Volume in 1 second (FEV1)
timeFrame: 1 day
measure: Forced Expiratory Volume (FVC)
timeFrame: 1 day
measure: Ratio of FEV1/FVC
timeFrame: 1 day
measure: Peak cough flow
timeFrame: 1 day
measure: Sniff nasal inspiratory pressure
timeFrame: 1 day
measure: Brain natriuretic peptide
timeFrame: 1 day
measure: Troponin-I
timeFrame: 6 months
measure: Arterialised blood gas tensions
timeFrame: 1 day
measure: Colon transit study
timeFrame: 1 day
measure: Themes describing patient perceptions of experiences and needs in complex clinical and non-clinical decision making
timeFrame: 1 hour
measure: Weight
timeFrame: 1 day
measure: Height
timeFrame: 1 day
measure: Body Mass Index
timeFrame: 1 day
measure: Nocturnal transcutaneous carbon dioxide
timeFrame: 1 day
measure: Cardiac function
timeFrame: 1 day
Other outcomes:
Locations:
city: London
country: United Kingdom
facility: Royal Brompton Hospital
Study officials:
affiliation: Royal Brompton & Harefield NHS Foundation Trust
name: Anita K Simonds, MD MBBS
role: PRINCIPAL_INVESTIGATOR
References: