Clinical trial NCT02833168: Screening Questionnaire for Respiratory Muscle Weakness and Sleep-disordered Breathing in Neuromuscular Disorders
Official title: Validation of a German Language Screening Questionnaire for Symptoms of Respiratory Muscle Weakness and Sleep-disordered Breathing in Patients With Neuromuscular Disorders
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Neuromuscular Disorders
Keywords: Neuromuscular disorders
Sleep disordered breathing
Dyspnea
Lead sponsor: Universität Münster
Sponsor class: OTHER
First posted: 2016-07-14
Enrollment: 90
Sex: ALL
Minimum age (years): 18
Maximum age (years): 80
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with neuromuscular disorders, newly diagnosed obstructive sleep apnea syndrome or sleep disorders other than sleep-related breathing disorders (30 patients in each group)

Brief summary: It is the aim of this project to develop and validate a German language screening questionnaire for symptoms of respiratory muscle weakness and sleep-disordered breathing (SDB) in patients with neuromuscular disorders.

Detailed description: SDB is a promiment clinical feature of various neuromuscular disorders including amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and myopathies such as myotonic dystrophy type 1, Pompe disease, and limb-girdle muscular dystrophies (LGMD). In ALS, SMA, LGMD and Pompe disease, SDB is usually caused by nocturnal alveolar hypoventilaton due to diaphragmatic weakness which manifests first during sleep and REM sleep in particular. SDB usually leads to sleep disruption, non-restorative sleep and daytime symptoms including morning headache, hypersomnolence, and increased neuromuscular fatigue. In patients with severe diaphragmatic involvement both symptoms of SDB and potential complications of respiratory muscle weakness substantially add to overall disease burden of the disease and decrease life span. Diagnosis of SDB is established by means of sleep studies which should ideally comprise polysomnography (PSG) and transcutaneous capnography. PSG with capnometry is time-consuming, expensive and not readily available for patients or referring physicians, respectively. For this reason it is desirable to thoroughly screen patients with neuromuscular disease for symptoms of SDB and respiratory muscle weakness. Results from a validated screening questionnaire could be used as an adjunctive to pulmonary function testing or spirometry results in order to identify patients in whom sleep studies should be performed. In addition, a screening questionnaire would facilitate early recognition of patients with SDB, enabling treating physicians to take appropriate steps to establish the diagnosis and to initiate non-invasive ventilation as early as possible.

Until now, there is no validated German language screening questionnaire for symptoms of respiratory muscle weakness and SDB. Steier et al. published an English language questionnaire which was validated as a screening tool in 33 patients with very different neuromuscular disorders which were predominantly neurogenic (Steier et al. 2011). In this study, SDB was defined by an apnea hypopnea index above 5 per hour. Nocturnal oxygen saturation and CO2 monitoring were not taken into account at all. In addition the questionnaire does not systematically cover sleep-related symptoms of SDB in detail (such as sleep disruption and morning headache) which have to be separated from daytime symptoms such as dyspnea or orthopnea, respectively.

Thus, the current project aims to correlate comprehensively generated items of a screening questionnaire with sleep study results including capnography alongside with respiratory muscle testing in patients with neuromuscular disorders. As control subjects, patients with newly diagnosed obstructive sleep apnea syndrome and sleep disorders other than sleep-related breathing disorders are enrolled in the study.

Eligibility criteria: Inclusion Criteria:

* proven neuromuscular disease known to be potentially associated with diaphragmatic weakness (group 1)
* newly diagnosed obstructive sleep apnea with an apnea hypopnea index \> 15/h total sleep time (group 2)
* newly diagnosed narcolepsy, hypersomnia, insomnia or parasomnia in the absence of any sleep-related breathing disorder (group 3)
* availability of recent diagnostic sleep studies including polysomnography and transcutaneous capnography

Exclusion Criteria:

* ongoing CPAP oder non-invasive ventilation
* inability to participate in study procedures
* severe lung disease

Primary outcomes:
measure: Nocturnal hypercapnia tcCO2
timeFrame: 1 day
Secondary outcomes:
Other outcomes:
Locations:
city: Münster
country: Germany
facility: University Hospital Münster, Department of Sleep Medicine and Neuromuscular Disorders
city: Solingen
country: Germany
facility: Bethanien Hospital
Study officials:
affiliation: University Hospital Münster, Department of Sleep Medicine and Neuromuscular Disorders
name: Matthias Boentert, MD
role: STUDY_CHAIR
References: