Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome

Completed

• Conditions: Ehlers-Danlos Syndrome; Obstructive Sleep Apnea

• Registration Number: NCT02435745
• Lead Sponsor: University of Zurich

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.

Study Timeline

• Study Start: 2015-04
• Study First Submitted: 2015-04-27
• Study First Submitted QC: 2015-04-30
• Study First Posted: 2015-05-06
• Status Verified: 2015-12
• Primary Completion: 2015-12
• Study Completion: 2015-12
• Last Update Submitted: 2015-12-10
• Last Update Posted: 2015-12-11

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 200

Inclusion Criteria

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

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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

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Prevalence of OSA	up to 12 months

Secondary Outcome Measures

Name	Time	Method
Aortic diameter	up to 12 months
Craniofacial phenotyping	up to 12 months

Trial Locations

Locations (1)

Division of Pulmonology, University Hospital Zurich; 🇨🇭 Zurich, Switzerland