AUTONOMY
Research type
Research Study
Full title
Extra-Articular Manifestations of Hypermobile Ehlers-Danlos Syndrome
IRAS ID
249051
Contact name
Ian Wilkinson
Contact email
Sponsor organisation
Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge
Clinicaltrials.gov Identifier
Not applicable, Not applicable
Duration of Study in the UK
3 years, 0 months, 0 days
Research summary
What are the physiological processes underlying extra-articular manifestations of hypermobile Ehlers-Danlos Syndrome and how are they associated? \n\nHypermobile Ehlers-Danlos Syndrome (hEDS) is a relatively common, but diverse connective-tissue disorder causing overly flexible joints, stretchy skin and tissue fragility. Many patients also experience extra-articular (non-joint related) manifestations including long-term pain, local anaesthetic insensitivity, and orthostatic intolerance (symptoms when standing). These vary in severity, but often result in significant disability and reduced quality of life. Evidence-based care of hEDS patients is lacking, due to a limited understanding of the condition and its causes. Therefore, clinicians face uncertainty regarding effective management which is mainly limited to symptom control. \n\nThis study will address extra-articular manifestations of hEDS by investigating the basic characteristics of symptomatic hypermobility and the overlap between them, with emphasis on the cardiovascular and autonomic nervous (control of unconscious bodily functions e.g. heart rate) systems, pain perception and small-fibre dysfunction. We will also look into genetic associations.\n \nEligible participants will be 18 years of age or older, and either have a current clinical diagnosis of hEDS (or equivalent), or be a healthy volunteer. Relevant information from patients’ medical records will be collected to avoid repeated assessments. Additionally, patients will be asked to donate a blood sample and skin biopsy, and participate in neurological/ pain perception assessments. Healthy volunteers will complete these assessments in addition to further blood tests, and cardiovascular/autonomic nervous system assessments as per patient care. Assessments will be conducted across a maximum of two half-day visits at Addenbrooke’s Hospital.\n\nResults will contribute towards a greater understanding of hEDS and its extra-articular manifestations, therefore improving diagnosis and management of the condition. Refining the phenotype of this group will also increase the likelihood of discovering the genetic causes, thus allowing for genetic testing. Overall this work may identify possible therapeutic targets for investigation in future interventional trials. \n
REC name
North of Scotland Research Ethics Committee 1
REC reference
18/NS/0121
Date of REC Opinion
29 Oct 2018
REC opinion
Favourable Opinion