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Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome (OSA in EDS)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02435745
Recruitment Status : Completed
First Posted : May 6, 2015
Last Update Posted : December 11, 2015
Sponsor:
Collaborators:
University Children's Hospital, Zurich
Ehlers-Danlos Network, Switzerland
Information provided by (Responsible Party):
Malcolm Kohler, University of Zurich

Brief 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.


Condition or disease
Ehlers-Danlos Syndrome Obstructive Sleep Apnea

Detailed 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.

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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
Ehlers-Danlos Syndrome
Patients with the diagnosis of Ehlers-Danlos syndrome
Controls
Patients/Subjects without the diagnosis of Ehlers-Danlos syndrome



Primary Outcome Measures :
  1. Prevalence of OSA [ Time Frame: up to 12 months ]

Secondary Outcome Measures :
  1. Craniofacial phenotyping [ Time Frame: up to 12 months ]
  2. Aortic diameter [ Time Frame: up to 12 months ]


Information from the National Library of Medicine

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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
Study Population
Prospective case-control study including EDS patients and controls matched for age, gender, height and weight. The following outcomes will be assessed: 1) apnoea-hypopnoea index, 2) sleep-related questionnaires, 3) medical chart review, and 4) echocardiography
Criteria

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

Information from the National Library of Medicine

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


Locations
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Switzerland
Division of Pulmonology, University Hospital Zurich
Zurich, Switzerland, 8091
Sponsors and Collaborators
University of Zurich
University Children's Hospital, Zurich
Ehlers-Danlos Network, Switzerland
Investigators
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Principal Investigator: Malcolm Kohler, Prof. MD University of Zurich
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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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
Keywords provided by Malcolm Kohler, University of Zurich:
Ehlers-Danlos Syndrome
Obstructive Sleep Apnea
Prevalence
Aortic Aneurysm
Additional relevant MeSH terms:
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Apnea
Sleep Apnea Syndromes
Sleep Apnea, Obstructive
Ehlers-Danlos Syndrome
Syndrome
Disease
Pathologic Processes
Respiration Disorders
Respiratory Tract Diseases
Signs and Symptoms, Respiratory
Signs and Symptoms
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