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NCT06659640
The purpose of this study is to: * evaluate the safety, tolerability, pharmacokinetics (PK) and pharmacodynamics (PD) of single ascending doses of ALN-6400 in healthy volunteers * evaluate the efficacy, safety, tolerability and PD of multiple doses of ALN-6400 in adult patients with HHT
NCT04404881
This research study is studying to see whether bevacizumab may treat chronic bleeding and iron deficiency anemia in Hereditary Hemorrhagic Telangiectasia (HHT). Hereditary Hemorrhagic Telangiectasia (HHT) is a disorder that causes abnormal blood vessel formation. In HHT, there is a mutation in the TGF-β pathway, which results in an increase of vascular endothelial growth factor (VEGF) levels. An increase in VEGF levels can result in poorly formed blood vessels that have a higher rate of bleeding than normal blood vessels. Bevacizumab is designed to block VEGF activity. It is believed that targeting increased VEGF levels may be able to treat HHT. This research study involves the following study drug: \- Bevacizumab
NCT07445347
High cardiac output secondary to hepatic arteriovenous malformations may be isolated or associated with left heart failure with post-capillary pulmonary hypertension. More rarely, precapillary pulmonary hypertension develops, linked to obstructive pulmonary arterial remodeling, referred to as pulmonary arterial hypertension (PAH), which affects younger patients and is not necessarily associated with hepatic arteriovenous malformation. BEVACIZUMAB is an anti-VEGF treatment indicated under compassionate use guidelines for hereditary hemorrhagic telangiectasia in cases of symptomatic hepatic arteriovenous malformations, when complicated by isolated high cardiac output or post-capillary pulmonary hypertension, and in cases of refractory chronic bleeding. However, the efficacy of this treatment on pulmonary hypertension related to high cardiac output, isolated or associated with left heart failure, is poorly understood. In addition, this treatment is classified as a "possible association" for the development of PAH, according to the 7th World Congress Symposium on Pulmonary Hypertension. Indeed, Hlavaty et al. found, based on pharmacovigilance data and by searching for disproportionate effects using the Bayesian network method, a possible link between the use of BEVACIZUMAB and the development of PAH. This treatment is therefore not recommended in cases of PAH associated with hereditary hemorrhagic telangiectasia. The objective of this study is to investigate the efficacy and tolerability of Bevacizumab treatment in hereditary hemorrhagic telangiectasia with cardiac involvement (isolated symptomatic high cardiac output or associated with post-capillary PAH) secondary to severe liver damage, based on the experience of the French hereditary hemorrhagic telangiectasia network since the CIROCO registry was opened in 2009.
NCT07101575
Hereditary haemorrhagic telangiectasia (HHT) is a rare autosomal dominant genetic disease associated with mutations in genes encoding proteins of the transforming growth factor β (TGF-β) family, i.e. endoglin (ENG), activin receptor A (ACVRL1), and SMAD 4 (small mother against decapentaplegic 4). Mutations in any of these genes lead to the onset of arteriovenous malformations (AVMs). The clinical consequences of this syndrome are primarily AVM-associated complications. Major cardiovascular consequences occur in the more advanced stages, but their prevalence is low. Most HHT patients are asymptomatic, and ischemic heart disease has a significantly lower prevalence than in the general population. The limited sample size of studies currently published in the literature makes it difficult to characterize any subclinical cardiovascular alterations in asymptomatic HHT subjects. Alterations in TGF-β family proteins likely result in a protective effect on the coronary circulation against atherosclerosis. A thorough understanding of the potential protective factors against coronary artery disease, underlying HHT alterations, may allow the development of gene therapy models inspired by the HHT phenotype. Some manifestations of extracellular matrix remodelling at the tissue level (i.e. myocardial and valvular) may be more prevalent in HHT patients than in the general population. Finally, any subclinical alterations in cardiac function related to chronic anaemia and possible iron overload due to iron replacement therapy are not yet known. Primary objective of the study will be to perform a complete echocardiographic characterization, using new imaging methods aimed at identifying even subclinical dysfunctions of cardiac mechanics, including a phenotyping of the morphology and function of the valvular systems, as well as paradoxical shunts. Secondary objectives of the study will be: 1) To verify whether there are echocardiographic differences, related to extracellular matrix remodelling, in addition to the presence of shunts, between the various HHT genotypes and to identify any genotype-phenotype correlations. 2)To verify the impact of chronic anaemia and iron supplementation on cardiac mechanics in relation to possible genotype-phenotype interactions. About study methodology, collection and analysis of clinical and echocardiographic data will be obtained from routine cardiac assessments performed as part of the HHT clinical-care pathway.
NCT04874558
This study aims to develop a novel ultra-low dose chest CT technology for use in Hereditary Hemorrhagic Teleangiectasia (HHT) patients and to determine the lowest possible radiation dose that is achievable without sacrificing the diagnostic quality.
NCT06259292
The Comprehensive HHT Outcomes Registry of the United States (CHORUS) is an observational registry of patients diagnosed with Hereditary Hemorrhagic Telangiectasia (HHT). The purpose of this study is to better understand HHT, the symptoms and complications it causes, and the impact the disease has on people's lives. The investigators will collect long-term information about the participant, allowing us to understand how the disease changes over time, and what factors can influence those changes. Ultimately, this should help improve treatments for the disease. Another important goal of the study is to provide a way to contact people to participate in future clinical trials and other research. The registry will be a centralized resource for recruitment for clinical trials. People in the registry will not be obligated to join any of these additional studies, but if interested, can agree to be contacted if they may be eligible for a study. Participants will: * Be asked to provide permission to collect information from their medical records, including things like demographic information, diagnosis information, family history, test results, treatment information, symptoms, complications, lifestyle and other relevant medical information. * Be asked study-related questions by phone or at a clinic visit. * Be asked study-related questions every year after enrollment for up to 10 years or until the study ends. A member of the study team will communicate with participants by phone or at clinic visits to collect information regarding any changes to their health over the previous year/s including new test results, treatment information, symptoms, and complications from HHT.
NCT04646356
This study will investigate the effectiveness of oral low-dose tacrolimus for the treatment of recurrent nasal hemorrhage in HHT subjects. The primary outcome for the trials will be the reduction of epistaxis severity (minutes of bleeding per week). The biological outcomes of interest are the regression of vascular malformations as well as tissue and circulation biomarkers of the relevant mechanistic pathways. In this Phase II open label trial, we estimate a sample size of 30 subjects with HHT, with moderate-severe recurrent epistaxis will be required. Subject will be treated with a 6-month course of tacrolimus twice daily.
NCT03397004
This study will investigate the effectiveness of oral doxycycline for the treatment of recurrent nasal hemorrhage in Hereditary Hemorrhagic Telangiectasia (HHT) subjects. The primary outcome for the trials will be the reduction of epistaxis severity (minutes of bleeding per week). The biological outcomes of interest are the regression of vascular malformations as well as tissue and circulation biomarkers of the relevant mechanistic pathways. A Phase II, randomized double-blind placebo-controlled crossover trial. Approximately 30 subjects with HHT, with moderate-severe recurrent epistaxis will participate in the randomized double-blind placebo-controlled cross over trial. Subject will be treated with a 6-month course of doxycycline 100mg twice daily or placebo twice daily.
NCT05550376
The present project aims to study the inflammatory and endothelial responses involved in the differences in clinical events related to both genotypes (ENG vs. ACVRL1) in HHT. Accordingly, a cross-sectional study is proposed to evaluate the differences in circulating inflammatory and endothelial biomarkers, including interleukines, adhesion molecules, chemokines and immune regulatory molecules between both HHT groups.
NCT02464644
Hereditary Hemorrhagic Telangiectasia (HHT) affects 1 in 5,000 people. The purpose of this study is to provide data regarding the frequency of common health conditions and the tolerability of therapies in HHT by using a questionnaire. This will be filled in by both people with HHT, and controls who will be members of the general population without HHT. The questionnaire has been designed primarily for web based entry, but can also be circulated in paper format on request
NCT01752049
Hereditary hemorrhagic telangiectasia (HHT) is a hereditary vascular condition characterized by the development of abnormal connections between arteries and veins throughout the body, called vascular malformations. These abnormal blood vessels are referred to as arteriovenous malformations (AVM) if they are large and telangiectasias if they are small. Telangiectasias develop due to irregular growth of blood vessels. Anti-angiogenic therapy, such as the drug Apo-Timop, curbs the growth of new blood vessels. Apo-Timop is included in a class of medications called beta-blockers. Anti-angiogenic therapies exert their beneficial effects in a number of ways: by disabling the agents that activate and promote cell growth, or by directly blocking the growing blood vessel cells. The investigators think that anti-angiogenic therapy may lead to the shrinking of telangiectasia in people with HHT. The investigators hope that this study will provide us with proof of this concept and might lead to the development and study of anti-angiogenic therapies to help improve the lives of individuals with vascular malformations.
NCT03850730
Investigators will test the value of very low dose Pazopanib administered to patients with hereditary hemorrhagic telangiectasia for the reduction in the severity of nose bleeds in those with frequent and long duration bleeding episodes.
NCT04113187
Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder of angiogenesis associated with disabling epistaxis. Management of these nose bleedings requires more effective treatment. Propranolol, a beta-blocker, is a potentially useful therapeutic considering its anti-angiogenic properties. Our objective is to explore the efficacy of propranolol, three months after its introduction, on the cumulative duration of epistaxis in HHT patients.
NCT02389959
This is a randomized, controlled, double-blind, placebo-controlled trial of intranasal Avastin (bevacizumab) injection versus saline control for control of HHT-related epistaxis when used in conjunction with bipolar electrocautery.
NCT04139018
This study is a double-blinded, randomized controlled trial to evaluate the efficacy of an intranasal topical timolol gel in the care for epistaxis in adults with hereditary hemorrhagic telangiectasia.
NCT01402531
This is a research study to find out more about the use of Avastin (proper chemical name is bevacizumab) in the treatment of epistaxis (nose bleeding) in patients with Hereditary Hemorrhagic Telangiectasia (HHT).
NCT02936349
Current HHT guidelines recommend CT scan to detect new or recurrent PAVMs after embolotherapy. Recent studies using transthoracic contrast echocardiography (TTCE) shunt grade for PAVM screening suggest that graded TTCE can accurately predict the size of PAVMs on chest CT and their amenability to embolization. This study's purpose is to evaluate whether TTCE shunt grade can also accurately predict PAVM size and amenability to treatment in patients who are post-embolization.
NCT01485224
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.
NCT02106520
Hereditary Hemorrhagic Telangiectasia (HHT) is a rare (\~ 1/6000) but ubiquitous genetic disease. It is associated with abnormal angiogenesis and autosomal dominant inheritance, leading to telangiectasias and arteriovenous fistulae. More than 95% of patients are concerned by epistaxis (nosebleeds). These events are spontaneous, repeated, irregular, both diurnal and nocturnal, a source of anemia, disabling and very socially embarrassing. Anti-angiogenic treatments, including bevacizumab, are a new therapeutic option in HHT. The aim of this study is to evaluate 3 months after the end of the treatment the efficacy on the duration of the nosebleeds with 3 different doses (25, 50 and 75 mg) of bevacizumab administered as a nasal spray in a repeated manner (3 administrations) in patients with Hereditary Hemorrhagic Telangiectasia complicated by nosebleeds. This randomized, double-blind, placebo-controlled, seamless phase II/III study is to be carried out on 4 groups of 20 patients for first step and 2 groups of 20 to 40 patients for second step
NCT01406639
This study is for patients with recurrent epistaxis (nosebleeds) as a result of Hereditary Hemorrhagic Telangiectasia (HHT). The aim is to determine if ranibizumab, topically applied will diminish epistaxis in patients with HHT as measured by the HHT Epistaxis Severity Score (ESS), hematocrit, and hemoglobin and serum ferritin levels.