Clinical trial NCT02435745: Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome
Official title: Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Ehlers-Danlos Syndrome
Obstructive Sleep Apnea
Keywords: Ehlers-Danlos Syndrome
Obstructive Sleep Apnea
Prevalence
Aortic Aneurysm
Lead sponsor: University of Zurich
Sponsor class: OTHER
Collaborators: name: University Children's Hospital, Zurich
name: Ehlers-Danlos Network, Switzerland
First posted: 2015-05-06
Enrollment: 200
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Prospective case-control study including EDS patients and controls matched for age, gender, height and weight. The following outcomes will be assessed: 1) apnoea-hypopnoea index, 2) sleep-related questionnaires, 3) medical chart review, and 4) echocardiography

Brief summary: Ehlers-Danlos Syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. EDS features such as genetically related cartilage defects, craniofacial abnormalities and increased pharyngeal collapsibility have been proposed to cause obstructive sleep apnoea (OSA). There is evidence from studies based on questionnaires that EDS patients might be more frequently affected by OSA and sleep disturbances than the general population. However, the actual prevalence of OSA in patients with EDS is unknown.

Aortic root dilation and dissection are common complications of EDS and little is known about the underlying risk factors. Preliminary evidence suggests a link with OSA but this has not yet been investigated.

The primary objective of this study is to assess the prevalence of OSA in EDS-patients (100) compared to a matched control group (100). The secondary objective of this pioneer study is to assess whether there is a relationship between OSA severity and aortic diame-ter/craniofacial abnormalities in EDS patients.

Detailed description: Ehlers-Danlos Syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. EDS features such as genetically related cartilage defects, craniofacial abnormalities and increased pharyngeal collapsibility have been proposed to cause obstructive sleep apnoea (OSA). There is evidence from studies based on questionnaires that EDS patients might be more frequently affected by OSA and sleep disturbances than the general population. However, the actual prevalence of OSA in patients with EDS is unclear.

Aortic dilation and dissection are complications associated with EDS and little is known about the underlying risk factors. Preliminary evidence suggests a link with OSA but this has not yet been investigated.

The primary objective of this study is to assess the prevalence of OSA in EDS-patients compared to a matched control group. The secondary objective of the study is to assess whether there is a relationship between OSA severity and craniofacial phenotypes / aortic diameter in EDS patients.

Eligibility criteria: Inclusion Criteria:

* Informed consent
* Diagnosis of Ehlers-Danlos Syndrome (not for control group)

Exclusion Criteria:

* Moribund or severe disease prohibiting protocol adherence
* Continuous positive airway pressure treatment for OSA during sleep study
* Physical or intellectual impairment precluding informed consent or protocol adherence
* Pregnant patients

Primary outcomes:
measure: Prevalence of OSA
timeFrame: up to 12 months
Secondary outcomes:
measure: Craniofacial phenotyping
timeFrame: up to 12 months
measure: Aortic diameter
timeFrame: up to 12 months
Other outcomes:
Locations:
city: Zurich
country: Switzerland
facility: Division of Pulmonology, University Hospital Zurich
Study officials:
affiliation: University of Zurich
name: Malcolm Kohler, Prof. MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Gaisl T, Giunta C, Bratton DJ, Sutherland K, Schlatzer C, Sievi N, Franzen D, Cistulli PA, Rohrbach M, Kohler M. Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: a parallel cohort study. Thorax. 2017 Aug;72(8):729-735. doi: 10.1136/thoraxjnl-2016-209560. Epub 2017 Jan 10.