Clinical trial NCT05434728: Characterization of Bleeding Disorders in EDS
Official title: Disordered Bleeding in Ehlers Danlos Syndromes
Study type: OBSERVATIONAL
Overall status: UNKNOWN
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)
Lead sponsor: University Health Network, Toronto
Sponsor class: OTHER
First posted: 2022-06-28
Enrollment: 45
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Observational model: OTHER
Time perspective: CROSS_SECTIONAL
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.

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.


Eligibility criteria: 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

Primary outcomes:
measure: The prevalence of platelet dysfunction among patients with a known diagnosis of EDS
timeFrame: 6 months
Secondary outcomes:
measure: The severity of platelet dysfunction (as characterized by the percentage of non-functional platelets) in patients with EDS
timeFrame: 6 months
measure: The prevalence and severity of impaired thrombin generation as assessed through thrombin generation testing in patients with EDS
timeFrame: 6 months
measure: The prevalence and severity of impaired hemostasis as assessed through viscoelastic testing (ROTEM) in patients with EDS
timeFrame: 6 months
measure: The prevalence and severity of bleeding as assessed via the ISTH-BAT scale in patients with EDS
timeFrame: 6 months
Other outcomes:
Locations:
city: Toronto
country: Canada
facility: GoodHope EDS - Toronto General Hospital
state: Ontario
Study officials:
affiliation: University Health Network - University of Toronto
name: Nimish Mittal, MBBS, MD
role: PRINCIPAL_INVESTIGATOR
References: