Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome

NCT02435745 | Completed

• 1 other identifier: KEK-ZH-Nr. 2015-0144
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

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.

Conditions

Ehlers-Danlos Syndrome; Obstructive Sleep Apnea

Keywords

Ehlers-Danlos Syndrome; Obstructive Sleep Apnea; Prevalence; Aortic Aneurysm

Outcome Measures

Primary Outcomes (1)

• Prevalence of OSA

  up to 12 months

Secondary Outcomes (2)

• Craniofacial phenotyping

  up to 12 months

• Aortic diameter

  up to 12 months

Study Arms (2)

Ehlers-Danlos Syndrome

Patients with the diagnosis of Ehlers-Danlos syndrome

Controls

Patients/Subjects without the diagnosis of Ehlers-Danlos syndrome

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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

You may qualify if:

• Informed consent
• Diagnosis of Ehlers-Danlos Syndrome (not for control group)

You may not qualify if:

• 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

Sponsors & Collaborators

• University of Zurich: lead
• University Children's Hospital, Zurich: collaborator
• Ehlers-Danlos Network, Switzerland: collaborator

Study Sites (1)

Division of Pulmonology, University Hospital Zurich

Zurich, Canton of Zurich, 8091, Switzerland

Location

Related Publications (1)

• 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.

  PMID: 28073822 DERIVED

MeSH Terms

Conditions

Ehlers-Danlos Syndrome; Sleep Apnea, Obstructive; Aortic Aneurysm

Condition Hierarchy (Ancestors)

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

Study Officials

• Malcolm Kohler, Prof. MD

  University of Zurich

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Prof. Dr. med. Malcolm Kohler

Study Record Dates

• First Submitted: April 27, 2015
• First Posted: May 6, 2015
• Study Start: April 1, 2015
• Primary Completion: December 1, 2015
• Study Completion: December 1, 2015
• Last Updated: December 11, 2015

Record last verified: 2015-12

Locations

CH (1)