Characterization of Bleeding Disorders in EDS

Ehlers-Danlos Syndrome Clinical Trial

Official title:

Disordered Bleeding in Ehlers Danlos Syndromes

Clinical Trial Details — Status: Enrolling by invitation

Administrative data

• NCT number: NCT05434728
• Other study ID #: 21-5787.0
• Status: Enrolling by invitation
• Start date: November 1, 2022
• Est. completion date: February 1, 2024

Study information

• Verified date: May 2023
• Source: University Health Network, Toronto
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Enrolling by invitation
• Enrollment: 45
• Est. completion date: February 1, 2024
• Est. primary completion date: December 1, 2023
• Gender: All
• Age group: 18 Years and older

Eligibility

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.

Exclusion Criteria:

• Subtypes of Ehlers Danlos Syndrome which are not Classical, Hypermobile, or Vascular.

• Unable or unwilling to consent for the study

Related Conditions & MeSH terms

• EDS
• Ehlers-Danlos Syndrome
• Hypermobile EDS (hEDS)
• Hypermobile Ehlers-Danlos Syndrome
• Syndrome
• Vascular Ehlers-Danlos Syndrome

Intervention

Other:
• 20 ml venous blood collection
participant blood sample will be divided between sample EDTA sample tubes for thrombin generation testing and viscoelastic (ROTEM) testing of impaired hemostasis

Locations

Country	Name	City	State
Canada	GoodHope EDS - Toronto General Hospital	Toronto	Ontario

Sponsors (1)

Lead Sponsor	Collaborator
University Health Network, Toronto

Country where clinical trial is conducted

Canada, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	The prevalence of platelet dysfunction among patients with a known diagnosis of EDS		6 months
Secondary	The severity of platelet dysfunction (as characterized by the percentage of non-functional platelets) in patients with EDS		6 months
Secondary	The prevalence and severity of impaired thrombin generation as assessed through thrombin generation testing in patients with EDS		6 months
Secondary	The prevalence and severity of impaired hemostasis as assessed through viscoelastic testing (ROTEM) in patients with EDS		6 months
Secondary	The prevalence and severity of bleeding as assessed via the ISTH-BAT scale in patients with EDS		6 months