NCT02712060

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
50

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Mar 2016

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

March 1, 2016

Completed
13 days until next milestone

First Submitted

Initial submission to the registry

March 14, 2016

Completed
3 days until next milestone

First Posted

Study publicly available on registry

March 17, 2016

Completed
1.1 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

May 1, 2017

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

May 1, 2017

Completed
Last Updated

May 15, 2017

Status Verified

May 1, 2017

Enrollment Period

1.2 years

First QC Date

March 14, 2016

Last Update Submit

May 12, 2017

Conditions

Keywords

Ehlers-Danlos SyndromeObstructive Sleep ApneaPrevalenceChildrenPediatricAdolescents

Outcome Measures

Primary Outcomes (1)

  • Prevalence of OSA in children and adolescents with EDS

    up to 12 months

Secondary Outcomes (1)

  • Quality of life in children and adolescents with EDS

    up to 12 months

Study Arms (2)

EDS patients

Patients with the diagnosis of Ehlers-Danlos syndrome

Other: No intervention

controls

Patients/Subjects without the diagnosis of Ehlers-Danlos syndrome

Other: No intervention

Interventions

EDS patientscontrols

Eligibility Criteria

AgeUp to 18 Years
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64)
Sampling MethodProbability 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

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Division of Pulmonology, University Hospital Zurich

Zurich, 8091, Switzerland

Location

MeSH Terms

Conditions

Sleep Apnea, ObstructiveEhlers-Danlos Syndrome

Condition Hierarchy (Ancestors)

Sleep Apnea SyndromesApneaRespiration DisordersRespiratory Tract DiseasesSleep Disorders, IntrinsicDyssomniasSleep Wake DisordersNervous System DiseasesHemostatic DisordersVascular DiseasesCardiovascular DiseasesHemorrhagic DisordersHematologic DiseasesHemic and Lymphatic DiseasesSkin AbnormalitiesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin Diseases, GeneticGenetic Diseases, InbornCollagen DiseasesConnective Tissue DiseasesSkin and Connective Tissue DiseasesSkin Diseases

Study Officials

  • Malcolm Kohler, 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.

Study Record Dates

First Submitted

March 14, 2016

First Posted

March 17, 2016

Study Start

March 1, 2016

Primary Completion

May 1, 2017

Study Completion

May 1, 2017

Last Updated

May 15, 2017

Record last verified: 2017-05

Locations