Characterization of Bleeding Disorders in EDS

• Conditions: Classical EDS (cEDS); Ehlers-Danlos Syndrome; EDS; Classical Ehlers-Danlos Syndrome; Hypermobile Ehlers-Danlos Syndrome; Vascular Ehlers-Danlos Syndrome; Hypermobile EDS (hEDS); Vascular EDS (vEDS)
• Interventions: Other: 20 ml venous blood collection

• Registration Number: NCT05434728
• Lead Sponsor: University Health Network, Toronto

Brief Summary

Ehlers-Danlos Syndrome (EDS) is a disease that weakens the connective tissues (i.e. tendons and ligaments) in the human body. EDS can make the joints loose and alter skin and wound healing. It can also weaken blood vessels and organs. Many EDS patients are referred for investigation of bleeding symptoms. Although most patients will have mild symptoms such as bruising, many will experience significant bleeding that can be life-threatening. The physiological reason behind this has not been identified and therefore, treating this is challenging. In addition, patients with EDS frequently require major surgery due to complications from their connective tissue disease. These surgery carries a significant risk of catastrophic bleeding which is further magnified in this group of patients. The specific reason of clinical bleeding in patients with EDS is likely multifactorial, including skin and blood vessel fragility leading to increased bruising and poor wound healing, coagulopathies related to factor deficiency, acquired vonWillebrand disease (VWD), and notable platelet dysfunction.

Despite compelling preliminary evidence, there is limited data on the diagnosis and management of platelet dysfunction in EDS patients. Therefore, in this study we will characterize hemostasis, the medical term which refers to the process of stopping blood flow, across the three most common subtypes of EDS.we will also determine the burden of illness of pathologic bleeding in patients with Ehlers-Danlos Syndrome (EDS) using validated patient reported tools.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2022-06-17
• Study First Submitted QC: 2022-06-22
• Study First Posted: 2022-06-28
• Study Start: 2022-11-01
• Status Verified: 2023-05
• Last Update Submitted: 2023-05-08
• Last Update Posted: 2023-05-09
• Primary Completion: 2023-12-01
• Study Completion: 2024-02-01

Recruitment & Eligibility

• Status: ENROLLING_BY_INVITATION
• Sex: All
• Target Recruitment: 45

Inclusion Criteria

• Any adult (≥ 18 years) patient with a known diagnosis of Ehlers Danlos Syndrome (Subtypes Classical, Hypermobile, or Vascular) as per the 2017 International Classification of Ehlers Danlos Syndrome.

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Exclusion Criteria

• Subtypes of Ehlers Danlos Syndrome which are not Classical, Hypermobile, or Vascular.
• Unable or unwilling to consent for the study

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Hypermobile EDS	20 ml venous blood collection	Individuals with a confirmed diagnosis of hypermobile EDS
Classical EDS	20 ml venous blood collection	Individuals with a confirmed diagnosis of classical EDS
Vascular EDS	20 ml venous blood collection	Individuals with a confirmed diagnosis of vascular EDS

Primary Outcome Measures

Name	Time	Method
The prevalence of platelet dysfunction among patients with a known diagnosis of EDS	6 months

Secondary Outcome Measures

Name	Time	Method
The severity of platelet dysfunction (as characterized by the percentage of non-functional platelets) in patients with EDS	6 months
The prevalence and severity of impaired hemostasis as assessed through viscoelastic testing (ROTEM) in patients with EDS	6 months
The prevalence and severity of impaired thrombin generation as assessed through thrombin generation testing in patients with EDS	6 months
The prevalence and severity of bleeding as assessed via the ISTH-BAT scale in patients with EDS	6 months

Trial Locations

Locations (1)

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