Hereditary Hemorrhagic Telangiectasia (HHT), Rendu Osler Disease
Conditions
Keywords
HHT, Rendu-Osler, Bevacizumab, Bleeding, High Cardiac output, Anaemia
Brief summary
Rendu-Osler disease (RO), also known as Hereditary Haemorrhagic Telangiectasia (HHT), is an autosomal dominant genetic disorder. Its pathophysiology is associated with an imbalance in angiogenic balance. The resulting epistaxis and digestive bleeding can be severe, requiring repeated transfusions in 5% of patients. In addition, some patients with HHT may present with liver damage, leading to high-flow heart failure. Vascular Endothelial Growth Factor (VEGF) plays a role in the pathophysiology of Rendu-Osler disease, leading to the use of a recombinant anti-VEGF monoclonal antibody, bevacizumab. Studies conducted and promoted by HCL have demonstrated the efficacy and safety of bevacizumab in patients with HHT. In 2014, bevacizumab was granted orphan drug designation for this disease. The 2020 international guidelines for the diagnosis and management of HHT suggest the use of systemic antiangiogenic agents in cases of epistaxis resistant to other treatments. The use of bevacizumab has been widely published in uncontrolled studies, demonstrating its efficacy in reducing epistaxis, improving anaemia, reducing transfusion dependence and improving quality of life. In France, bevacizumab is currently prescribed outside the scope of its marketing authorization. Treatment indications are validated within the French network of expert centres and the FAVAmulti rare disease network. In other countries, access to this treatment varies widely according to local regulations, and is currently being evaluated in the European VASCERN network. The aim of this study is to describe the use of bevacizumab in patients treated for HHT in France.
Interventions
OTHERReal World data study.
The bevacizumab population is defined as patients who received at least one bevacizumab injection. Descriptive analyses will be performed using demographic, clinical and genetic data
Sponsors
Hospices Civils de Lyon
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* \- Adult over 18 years of age * Rendu-Osler disease treated with bevacizumab prescribed for this condition * Treated and followed in France
Exclusion criteria
* \- Patient opposition to data use
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| The cumulated number of RBC (Red Blood Cell) units transfused | Efficacy outcomes were assessed across three consecutive 6-month periods: Period P1 (baseline), 6 months prior to the first infusion of bevacizumab ; Period P2, first 6 months following the initial induction infusion ; Period P3, the 6 months immediatel | The number of RBC units transfused (date and number of units) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Hemoglobin values (g/L) | Efficacy outcomes were assessed across three consecutive 6-month periods: Period P1 (baseline), 6 months prior to the first infusion of bevacizumab ; Period P2, first 6 months following the initial induction infusion ; Period P3, the 6 months immediatel | Hemoglobin values were collected continually, the average of all available hemoglobin values were calculated for each period, anemia was defined as an hemoglobin mean level less than 120 g/dl regardless of gender |
Countries
France
Outcome results
None listed