Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome

Study Overview
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Brief Summary
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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
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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.

Official Title
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Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome

Conditions
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Ehlers-Danlos Syndrome, Obstructive Sleep Apnea

Participation Criteria
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Eligibility Criteria
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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
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Ehlers-Danlos Syndrome<br>Patients with the diagnosis of Ehlers-Danlos syndrome | |
| Controls<br>Patients/Subjects without the diagnosis of Ehlers-Danlos syndrome | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Prevalence of OSA |  | up to 12 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Craniofacial phenotyping |  | up to 12 months | 
| Aortic diameter |  | up to 12 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Ehlers-Danlos Syndrome, Obstructive Sleep Apnea, Prevalence, Aortic Aneurysm