Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic Telangiectasia
Status:
Completed
Trial end date:
2016-10-11
Target enrollment:
Participant gender:
Summary
Hereditary hemorrhagic telangiectasia (HHT) (OMIM 187300 and 600376), also known as
Rendu-Osler-Weber syndrome, is an autosomal dominant disease and has a prevalence between
1:5000 and 1:8000 in different populations. Clinically, the occurrence of mucocutaneous and
gastrointestinal telangiectasias and of systemic arteriovenous malformations is commonly
observed. Recurrent and severe epistaxis, due to the presence of telangiectasias in nasal
mucosa, is the most common presentation of HHT, frequently leading to severe anemia requiring
intravenous iron and blood transfusions. Although not life threatening, severe epistaxis has
a great impact on quality of life in HHT patients and it represents the most important
impediment in daily activities, that poses therapeutic challenge. Recently, angiogenesis has
been implicated in the pathogenesis of HHT. Circulating concentrations of both TGF-beta and
vascular endothelial growth factor (VEGF) are significantly elevated and therefore,
anti-angiogenic substances may be effective in the treatment of vascular malformations in
this disease. Thalidomide functions as a potent immunosuppressive and antiangiogenic agent.
The aim of this study is to assess the clinical effects of thalidomide therapy on the
severity of epistaxis in subjects with HHT who are refractory to standard therapies.