Clinical trial NCT02712060: Obstructive Sleep Apnoea in Children and Adolescents With Ehlers-Danlos Syndrome
Official title: Obstructive Sleep Apnoea in Children and Adolescents With Ehlers-Danlos Syndrome
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Ehler's Danlos Syndrome
Obstructive Sleep Apnea
Keywords: Ehlers-Danlos Syndrome
Obstructive Sleep Apnea
Prevalence
Children
Pediatric
Adolescents
Lead sponsor: University of Zurich
Sponsor class: OTHER
Collaborators: name: University Children's Hospital, Zurich
name: Ehlers-Danlos Network, Switzerland
First posted: 2016-03-17
Enrollment: 50
Sex: ALL
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Prospective case-control study including children and adolescents from 0-18 with EDS and matched controls. The following outcomes will be assessed: 1) apnoea-hypopnoea index, 2) sleep-related questionnaires, 3) medical chart review

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 children and adolescents with EDS is unknown.

The primary objective of this study is to assess the prevalence of OSA in children and adolescents with EDS (25) compared to a matched control group (25). The secondary objective of this pioneer study is to assess the quality of life in children and adolescents in EDS in comparison to healthy children and adolescents.

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 children and adolescents with EDS is unknown.

The primary objective of this study is to assess the prevalence of OSA in children and adolescents with EDS compared to a matched control group. The secondary objective of this pioneer study is to assess the quality of life in children and adolescents in EDS in comparison to healthy children and adolescents.

Eligibility 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

Primary outcomes:
measure: Prevalence of OSA in children and adolescents with EDS
timeFrame: up to 12 months
Secondary outcomes:
measure: Quality of life in children and adolescents with EDS
timeFrame: up to 12 months
Other outcomes:
Locations:
city: Zurich
country: Switzerland
facility: Division of Pulmonology, University Hospital Zurich
Study officials:
affiliation: University of Zurich
name: Malcolm Kohler, MD
role: PRINCIPAL_INVESTIGATOR
References: