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Ultrastructural Collagen Markers in Ehlers Danlos Syndromes

NCT ID: NCT05429996

Last Updated: 2023-11-28

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ENROLLING_BY_INVITATION

Total Enrollment

20 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-10-31

Study Completion Date

2024-08-01

Brief Summary

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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

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Conditions

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Ehlers-Danlos Syndrome Classical Ehlers-Danlos Syndrome Hypermobile EDS (hEDS)

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Individuals with hypermobile EDS

Skin biopsy collection

Skin Biopsy

Intervention Type OTHER

Skin biopsy specimens will be collected for both groups and subjected to quantitative nano histology using atomic force microscopy to assess for structural profile of a single collagen fibril

Individuals with classical EDS

Skin biopsy collection

Skin Biopsy

Intervention Type OTHER

Skin biopsy specimens will be collected for both groups and subjected to quantitative nano histology using atomic force microscopy to assess for structural profile of a single collagen fibril

Interventions

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Skin Biopsy

Skin biopsy specimens will be collected for both groups and subjected to quantitative nano histology using atomic force microscopy to assess for structural profile of a single collagen fibril

Intervention Type OTHER

Eligibility Criteria

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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.

Exclusion Criteria

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

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University Health Network, Toronto

OTHER

Sponsor Role lead

Responsible Party

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Nimish Mittal

Staff Physician/Clinical Investigator

Responsibility Role PRINCIPAL_INVESTIGATOR

Locations

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GoodHope EDS - Toronto General Hospital

Toronto, Ontario, Canada

Site Status

Countries

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Canada

Other Identifiers

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21-5542.0

Identifier Type: -

Identifier Source: org_study_id