Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome

study id #: NCT02435745

condition: Ehlers-Danlos Syndrome, Obstructive Sleep Apnea

status: completed

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.

start date: April 2015

estimated completion: December 2015

last updated: December 11, 2015

phase of development: N/A

size / enrollment: 200

study 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.

primary outcomes:

• Prevalence of OSA [ Time Frame:up to 12 months ]

secondary outcomes:

• Craniofacial phenotyping [ Time Frame:up to 12 months ]
• Aortic diameter [ Time Frame:up to 12 months ]

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

sponsor: University of Zurich

investigators: Malcolm Kohler, Prof. MD University of Zurich

locations: Switzerland