Clinical trial NCT02721797: Origins and Impact of EDS in Connective Tissues and Skin
Official title: Origins and Impact of EDS in Connective Tissues and Skin
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Ehlers-Danlos Syndrome
Keywords: hypermobility
collagen
joint
hyperflexation
Lead sponsor: University College, London
Sponsor class: OTHER
Collaborators: name: University College London Hospitals
First posted: 2016-03-29
Enrollment: 35
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Eligible patients will be identified from screening of all new and existing Hypermobility, Orthopaedics and Gynaecology clinics at UCLH and invited to participate in the study. The appropriate information sheet will be given to the patients who have been identified for elective surgery as part of their treatment plan and meeting the inclusion.

Brief summary: Ehlers-Danlos Syndrome (EDS) is an inherited disease of collagen, found in connective tissues, such as skin. EDS patients suffer from joint and skin problems (skin hyperextensibility, joint hypermobility) along with a large range of other disorders, including, delayed wound healing with atrophic scarring, easy bruising, tissue fragility, gastrointestinal and gum problems. There are many different types of EDS, with different mechanisms of action, and not all of these are well understood. This study will used advanced microscopy techniques called atomic force microscopy (AFM) and scanning electron microscopy (SEM) to analyse the changes in collagen as a result of EDS, compared to normal collagen. These changes will be viewed at the micron and nanoscale level (between 1,000 to 100,000 x magnification), and will focus on the differences in collagen construction through a process called cross-linking. These changes could potentially help clinicians understand the root cause of EDS symptoms, and provide a deeper knowledge of cross-linking disorders in collagen. Increasing our knowledge of how collagen is affected in EDS patients, may lead to improved treatment options for patients.


Eligibility criteria: Inclusion Criteria:

* Adult (18+) patients requiring elective surgery as part of their treatment plan who fulfil the Brighton criteria for Joint Hypermobility Syndrome (JHS)/EDS hypermobility type with significant joint hypermobility (Beighton score of 6 and above) and /or have evidence of significant connective tissue weakness, or rectal/vaginal prolapse

Exclusion Criteria:

* Patients with insufficient ability in English to give informed consent, if a translator is not present.
* Patients with severe developmental disorders, precluding their consent for research

Primary outcomes:
measure: Histological changes in EDS compared with healthy collagen using light microscopy after staining
timeFrame: 1-5 years
measure: Collagen morphological changes in EDS compared with healthy collagen using AFM and SEM
timeFrame: 1-5 years
measure: Collagen topographical changes in EDS compared with healthy collagen using AFM and SEM
timeFrame: 1-5 years
Secondary outcomes:
measure: Collagen Young's modulus changes in EDS compared with healthy collagen using AFM
timeFrame: 1-5 years
measure: Collagen nanoscale adhesion changes in EDS compared with healthy collagen using AFM
timeFrame: 1-5 years
measure: Collagen nanoscale single molecule pulling force in EDS compared with healthy collagen using AFM
timeFrame: 1-5 years
Other outcomes:
Locations:
city: London
country: United Kingdom
facility: University Collage Hospital
Study officials:
affiliation: UCLH
name: Hanna Kazkaz
role: PRINCIPAL_INVESTIGATOR
affiliation: UCL
name: Laurent Bozec
role: PRINCIPAL_INVESTIGATOR
affiliation: UCL
name: Adam Strange
role: PRINCIPAL_INVESTIGATOR
affiliation: UCL
name: Rodney Graham
role: PRINCIPAL_INVESTIGATOR
affiliation: UCLH
name: Susan Parekh
role: PRINCIPAL_INVESTIGATOR
References: