Ehlers-Danlos Syndrome
Conditions
Brief summary
The main aim of this study is to evaluate the effect of cross linking on the elasticity of skin samples from patients with non-vascular Ehlers-Danlos Syndrome (hEDS or cEDS).
Detailed description
This is a single-center study based on skin biopsies. The skin biopsies will be taken at the non-vascular Ehlers-Danlos syndromes reference center at the Raymond Poincaré Hospital (Garches), by Dr. Karelle Benistan. This center regularly performs this type of biopsy as part of its routine care, and has set up a fibroblast bank for Genethon (Authorization for biological collection at Genethon: SED BACG n° DC-2021-4628). Samples will be transported to the Centre de Recherche Saint-Antoine (UMR-S 938) where they will be processed, cut and placed on histological slides. Atomic force microscopy analyses will be carried out at the Laboratoire de Réactivité de Surface (CNRS/Sorbonne University).
Interventions
PROCEDUREskin biopsy
Samples will be taken under local anaesthetic (after injection of 1 cc of Xylocaine without adrenaline) using a 4 mm diameter dermal biopsy punch. The biopsy will be performed on the buttocks. Fragments are stored in 15-mL polypropylene tubes in PBS at 4°C.
Sponsors
GCS Ramsay Santé pour l'Enseignement et la Recherche
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
BASIC_SCIENCE
Masking
NONE
Intervention model description
Single-center study performed on biopsied skin samples
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Patient aged 18 or over, having read and signed the consent form for participation in the study * Patient with classic or hypermobile Ehlers-Danlos syndrome * Regularly followed-up at the non-vascular Ehlers-Danlos Syndrome Reference Center at Garches Hospital.
Exclusion criteria
* Patient under court protection, guardianship or curatorship * Pregnant or breast-feeding patient * Patient not affiliated to the French social security system * Impossibility of giving the subject informed information and/or written informed consent: dementia, psychosis, disturbed consciousness, non-French-speaking patient * Contraindication to anaesthesia or allergy to local anaesthetic product
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Young's modulus quantification | Day 0 | Atomic force microscopy (AFM), in contact mode, enables force curves to be obtained. The tip no longer scans the surface of the sample, but probes the surface at several indentation points. A microlever deflection curve is generated for each indentation point. Calculation of Young's modulus is based on Bilodeau's model, in which the tip is assimilated to a pyramid in contact with a flat surface. F is the measured force, E the modulus of elasticity, α the face angle of the pyramid, δ the indentation depth and ν the Poisson's ratio of the sample, set at 0.5 (corresponding to an incompressible material). Young's modulus will be quantified by AFM |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Collagen fibril diameter measurement | Day 0 | Three 2 μm x 2 μm images with at least 100 scan lines will be acquired on each sample and used to describe the intrinsic characteristics of collagen fibrils. |
| Collagen fibril D-period length measurement | Day 0 | Three 2 μm x 2 μm images with at least 100 scan lines will be acquired on each sample and used to describe the intrinsic characteristics of collagen fibrils. |
Countries
France
Contacts
Primary ContactGeoffroy NOURISSAT, MD
Outcome results
None listed