Ultrastructural Collagen Markers in Ehlers Danlos Syndromes

• Conditions: Hypermobile EDS (hEDS); Ehlers-Danlos Syndrome; Classical Ehlers-Danlos Syndrome
• Interventions: Other: Skin Biopsy

• Registration Number: NCT05429996
• Lead Sponsor: University Health Network, Toronto

Brief Summary

Establishing the diagnosis of Ehlers Danlos Syndromes (EDS)/generalized hypermobility spectrum disorders (G-HSD) is often problematic for patients. The absence of a precise unifying diagnosis in patients results in a significant emotional burden on the patient and caregivers, not to mention the hidden costs, including multiple recurring visits to several medical specialists and associated social and economic costs. To date, while collagen ultra-scale morphological heterogeneity has been used to comment on an EDS diagnosis, the mechanical properties of the collagen remain mostly unexplored.

From a biophysical point of view, collagen affected with hEDS can be described as biomechanically deficient. In the case of EDS, the skin's abnormal elasticity can be directly related to the organization of the collagen network within the dermis. Quantitative Nanohistology (QNH) is a newer method to evaluate both the structural and mechanical properties of collagen in-situ histological sections.

Therefore, the aim of this study is to define histo-biophysical markers of two most common types of EDS i.e. classical EDS (cEDS) \& hypermobile EDS (hEDS) at the single collagen fibrils level and matrix and to further explore the origin of collagen fibril properties deficiency in hEDS and cEDS.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2022-06-17
• Study First Submitted QC: 2022-06-17
• Study First Posted: 2022-06-24
• Study Start: 2022-10-31
• Status Verified: 2023-11
• Last Update Submitted: 2023-11-27
• Last Update Posted: 2023-11-28
• Primary Completion: 2024-06-01
• Study Completion: 2024-08-01

Recruitment & Eligibility

• Status: ENROLLING_BY_INVITATION
• Sex: All
• Target Recruitment: 20

Inclusion Criteria

• Adults aged between 18 and 60 years who can provide informed consent in English
• Able to read, speak, and comprehend English without the assistance of a translator
• Have been diagnosed with hypermobile EDS as per the 2017 EDS criteria; or with genetically confirmed classical EDS (age and sex-matched). This diagnosis is carried out by the UHN GoodHope EDS clinic routinely for all patients on the basis of clinical exam and genetic testing, if indicated.

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Exclusion Criteria

• Subjects under the age of 18
• Unable to speak, read and comprehend English
• Unable to provide consent (cognitive impairment)
• Pregnant women

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Individuals with hypermobile EDS	Skin Biopsy	Skin biopsy collection
Individuals with classical EDS	Skin Biopsy	Skin biopsy collection

Primary Outcome Measures

Name	Time	Method
to analyze percentage prevalence of abnormal morphological markers of single collagen fibril using atomic force microscopy	3 months	systemic nanoscale imaging to investigate the presence of morphological markers associated with each EDS type and compared to the normative data from the Bozec-lab obtained from healthy volunteers. These markers include fibrils D-banding periodicity, unwinding of the fibrils, variation in fibrils registration, and finally, cylindrical homogeneity (of the fibril

Trial Locations

Locations (1)

GoodHope EDS - Toronto General Hospital; 🇨🇦 Toronto, Ontario, Canada