Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome (OSA in EDS)
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ClinicalTrials.gov Identifier: NCT02435745 |
Recruitment Status :
Completed
First Posted : May 6, 2015
Last Update Posted : December 11, 2015
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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.
Condition or disease |
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Ehlers-Danlos Syndrome Obstructive Sleep Apnea |
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 Type : | Observational |
Actual Enrollment : | 200 participants |
Observational Model: | Case-Control |
Time Perspective: | Prospective |
Official Title: | Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome |
Study Start Date : | April 2015 |
Actual Primary Completion Date : | December 2015 |
Actual Study Completion Date : | December 2015 |

Group/Cohort |
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Ehlers-Danlos Syndrome
Patients with the diagnosis of Ehlers-Danlos syndrome
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Controls
Patients/Subjects without the diagnosis of Ehlers-Danlos syndrome
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- Prevalence of OSA [ Time Frame: up to 12 months ]
- Craniofacial phenotyping [ Time Frame: up to 12 months ]
- Aortic diameter [ Time Frame: up to 12 months ]

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Ages Eligible for Study: | Child, Adult, Older Adult |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Probability Sample |
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

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02435745
Switzerland | |
Division of Pulmonology, University Hospital Zurich | |
Zurich, Switzerland, 8091 |
Principal Investigator: | Malcolm Kohler, Prof. MD | University of Zurich |
Responsible Party: | Malcolm Kohler, Prof. Dr. med. Malcolm Kohler, University of Zurich |
ClinicalTrials.gov Identifier: | NCT02435745 |
Other Study ID Numbers: |
KEK-ZH-Nr. 2015-0144 |
First Posted: | May 6, 2015 Key Record Dates |
Last Update Posted: | December 11, 2015 |
Last Verified: | December 2015 |
Ehlers-Danlos Syndrome Obstructive Sleep Apnea Prevalence Aortic Aneurysm |
Apnea Sleep Apnea Syndromes Sleep Apnea, Obstructive Ehlers-Danlos Syndrome Syndrome Disease Pathologic Processes Respiration Disorders Respiratory Tract Diseases Signs and Symptoms, Respiratory Sleep Disorders, Intrinsic Dyssomnias Sleep Wake Disorders |
Nervous System Diseases Hemostatic Disorders Vascular Diseases Cardiovascular Diseases Hemorrhagic Disorders Hematologic Diseases Skin Abnormalities Congenital Abnormalities Skin Diseases, Genetic Genetic Diseases, Inborn Collagen Diseases Connective Tissue Diseases Skin Diseases |