Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

200 participants

Study Classification

OBSERVATIONAL

Study Start Date

2015-04-30

Study Completion Date

2015-12-31

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.

Conditions

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Ehlers-Danlos Syndrome Obstructive Sleep Apnea

Keywords

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Ehlers-Danlos Syndrome Obstructive Sleep Apnea Prevalence Aortic Aneurysm

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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Ehlers-Danlos Syndrome

Patients with the diagnosis of Ehlers-Danlos syndrome

No interventions assigned to this group

Controls

Patients/Subjects without the diagnosis of Ehlers-Danlos syndrome

No interventions assigned to this group

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

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Responsible Party

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Malcolm Kohler

Prof. Dr. med. Malcolm Kohler

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Malcolm Kohler, Prof. MD

Role: PRINCIPAL_INVESTIGATOR

University of Zurich

Locations

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Division of Pulmonology, University Hospital Zurich

Zurich, Canton of Zurich, Switzerland

Site Status

Countries

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Switzerland

References

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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.

Reference Type DERIVED

PMID: 28073822 (View on PubMed)

Other Identifiers

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KEK-ZH-Nr. 2015-0144

Identifier Type: -

Identifier Source: org_study_id