Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome

Obstructive Sleep Apnea Clinical Trial

— OSA in EDS  

Official title:

Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02435745
• Other study ID #: KEK-ZH-Nr. 2015-0144
• Status: Completed
• Phase: N/A
• First received: April 27, 2015
• Last updated: December 10, 2015
• Start date: April 2015
• Est. completion date: December 2015

Study information

• Verified date: December 2015
• Source: University of Zurich
• Contact: n/a
• Is FDA regulated: No
• Health authority: Switzerland: Ethikkommission
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 200
• Est. completion date: December 2015
• Est. primary completion date: December 2015
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: N/A and older

Eligibility

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

Study Design

Observational Model: Case Control, Time Perspective: Prospective

Related Conditions & MeSH terms

• Apnea
• Ehlers-Danlos Syndrome
• Obstructive Sleep Apnea
• Sleep Apnea Syndromes
• Sleep Apnea, Obstructive
• Syndrome

Locations

Country	Name	City	State
Switzerland	Division of Pulmonology, University Hospital Zurich	Zurich

Sponsors (3)

Lead Sponsor	Collaborator
University of Zurich	Ehlers-Danlos Net Switzerland, University Children's Hospital, Zurich

Country where clinical trial is conducted

Switzerland, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Prevalence of OSA		up to 12 months	No
Secondary	Craniofacial phenotyping		up to 12 months	No
Secondary	Aortic diameter		up to 12 months	No

External Links

•   Study Homepage in English
•   Study Homepage in German