Evaluation of the Effects of Cross Linking on the Biomechanical Characteristics of Skin Samples From Patients With Classic or Hypermobile Ehlers-Danlos Syndrome (SEDSKIN)

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).

Study Overview

• Status: Not yet recruiting
• Conditions: Ehlers-Danlos Syndrome
• Intervention / Treatment: Procedure: skin biopsy

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).

• Study Type: Interventional
• Enrollment (Estimated): 28
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Geoffroy NOURISSAT, MD; Phone Number: 33 07 69 99 67 30; Email: gnourissat@wanadoo.fr

Study Locations

• France
  • Paris, France, 75019
    • Clinique Maussins-Nollet

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Basic Science
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Skin biopsy	Procedure: skin 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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Young's modulus quantification	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	Day 0

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Collagen fibril diameter measurement	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.	Day 0
Collagen fibril D-period length measurement	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.	Day 0

Collaborators and Investigators

• Sponsor: GCS Ramsay Santé pour l'Enseignement et la Recherche

Study record dates

Study Major Dates

• Study Start (Estimated): April 1, 2024
• Primary Completion (Estimated): April 1, 2025
• Study Completion (Estimated): July 31, 2025

Study Registration Dates

• First Submitted: March 21, 2024
• First Submitted That Met QC Criteria: March 21, 2024
• First Posted (Actual): March 28, 2024

Study Record Updates

• Last Update Posted (Actual): March 28, 2024
• Last Update Submitted That Met QC Criteria: March 21, 2024
• Last Verified: March 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Cardiovascular Diseases; Vascular Diseases; Skin Diseases; Disease; Congenital Abnormalities; Hematologic Diseases; Hemorrhagic Disorders; Genetic Diseases, Inborn; Connective Tissue Diseases; Hemostatic Disorders; Skin Diseases, Genetic; Skin Abnormalities; Collagen Diseases; Syndrome; Ehlers-Danlos Syndrome
• Other Study ID Numbers: 2023-A02097-38

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No