Origins and Impact of EDS in Connective Tissues and Skin

University College London (UCL)

Status: Unknown

Conditions: Ehlers-Danlos Syndrome

Treatments: Procedure: Orthopaedic & Gynaecology surgery

Study type: Observational

Funder types: Other

Identifiers

NCT02721797

15/0438

Details and patient eligibility

About

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.

Enrollment: 35 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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

Trial design

35 participants in 5 patient groups

Skin

Description:

Patients with EDS diagnosis having surgery, have debrided skin retained for this research

Treatment:

Procedure: Orthopaedic & Gynaecology surgery

Tendon

Description:

Patients with EDS diagnosis having surgery, have debrided tendon retained for this research

Treatment:

Procedure: Orthopaedic & Gynaecology surgery

Uterine tissue

Description:

Patients with EDS diagnosis having surgery, have debrided uterine tissue retained for this research

Treatment:

Procedure: Orthopaedic & Gynaecology surgery

Vaginal tissue

Description:

Patients with EDS diagnosis having surgery, have debrided vaginal tissues retained for this research

Treatment:

Procedure: Orthopaedic & Gynaecology surgery

Ligaments

Description:

Patients with EDS diagnosis having surgery, have debrided ligaments retained for this research

Treatment:

Procedure: Orthopaedic & Gynaecology surgery