Characterization of Bleeding Disorders in EDS

NCT05434728 | Unknown

• 1 other identifier: 21-5787.0
• Study Type: observational
• Target: 45
• Locations: 1 country
• Sites: 1

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.

Conditions

Ehlers-Danlos Syndrome; EDS; Classical Ehlers-Danlos Syndrome; Classical EDS (cEDS); Hypermobile Ehlers-Danlos Syndrome; Hypermobile EDS (hEDS); Vascular Ehlers-Danlos Syndrome; Vascular EDS (vEDS)

Outcome Measures

Primary Outcomes (1)

• The prevalence of platelet dysfunction among patients with a known diagnosis of EDS

  6 months

Secondary Outcomes (4)

• 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 thrombin generation as assessed through thrombin generation testing 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 bleeding as assessed via the ISTH-BAT scale in patients with EDS

  6 months

Study Arms (3)

Hypermobile EDS

Individuals with a confirmed diagnosis of hypermobile EDS

Other: 20 ml venous blood collection

Classical EDS

Individuals with a confirmed diagnosis of classical EDS

Other: 20 ml venous blood collection

Vascular EDS

Individuals with a confirmed diagnosis of vascular EDS

Other: 20 ml venous blood collection

Interventions

20 ml venous blood collection OTHER

participant blood sample will be divided between sample EDTA sample tubes for thrombin generation testing and viscoelastic (ROTEM) testing of impaired hemostasis

Classical EDS; Hypermobile EDS; Vascular EDS

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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.

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• University Health Network, Toronto: lead

Study Sites (1)

GoodHope EDS - Toronto General Hospital

Toronto, Ontario, M5G 2C4, Canada

Location

Biospecimen

Retention: SAMPLES WITH DNA

Venous blood sample will be collected

MeSH Terms

Conditions

Ehlers-Danlos Syndrome; Ehlers-Danlos syndrome type 1; Ehlers-Danlos syndrome type 3; Ehlers-Danlos Syndrome, Type IV

Condition Hierarchy (Ancestors)

Hemostatic Disorders; Vascular Diseases; Cardiovascular Diseases; Hemorrhagic Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Skin Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases, Genetic; Genetic Diseases, Inborn; Collagen Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Skin Diseases; Aortic Dissection; Dissection, Blood Vessel; Aneurysm

Study Officials

• Nimish Mittal, MBBS, MD

  University Health Network - University of Toronto

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Medical Director - GoodHope EDS Clinic, Toronto General Hospital

Study Record Dates

• First Submitted: June 17, 2022
• First Posted: June 28, 2022
• Study Start: November 1, 2022
• Primary Completion: December 1, 2023
• Study Completion: February 1, 2024
• Last Updated: May 9, 2023

Record last verified: 2023-05

Locations

CA (1)