Skip to main content
OpenTrials
Completed

NCT Number: NCT02435745

Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome

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.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Ehlers-Danlos Syndrome Aneurysm Aortic Aneurysm Aortic Diseases Apnea Cardiovascular Diseases Collagen Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Dyssomnias Genetic Diseases, Inborn Hematologic Diseases Hemic and Lymphatic Diseases Hemorrhagic Disorders Hemostatic Disorders Nervous System Diseases Obstructive Sleep Apnea Respiration Disorders Respiratory Tract Diseases Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases Sleep Apnea Syndromes Sleep Apnea, Obstructive Sleep Disorders, Intrinsic Sleep Wake Disorders Vascular Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Division of Pulmonology, University Hospital Zurich

Zurich, Canton of Zurich, 8091, Switzerland

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. Prevalence of OSA

    Time frame: up to 12 months

Secondary outcomes

  1. Craniofacial phenotyping

    Time frame: up to 12 months

  2. Aortic diameter

    Time frame: up to 12 months

Sponsors and collaborators

Lead sponsor

University of Zurich

Other

Collaborators

  • Ehlers-Danlos Network, Switzerland
  • University Children's Hospital, Zurich

Registry information

Acronym: OSA in EDS

Important dates

Study start
2015
Primary completion
2015
Study completion
2015
First posted
May 6, 2015
Registry last updated
Dec 11, 2015

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.