Active clinical trials for "Telangiectasia, Hereditary Hemorrhagic"

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

During the Efficacy Study (Part B), the investigators will study whether Pazopanib, taken daily for 24 weeks, will reduce the severity of nose bleeds in patients with hereditary hemorrhagic telangiectasia (HHT). Patients will either be provided active drug or a placebo [sugar - inactive pill], and be tested for nose bleed severity throughout the trial, including particularly nose bleed duration. Investigators will also test for blood loss, as well as for safety. This study is funded by the US Department of Defense USAMRAA and FDA/OOPD.

Patients affected by hereditary hemorrhagic telangiectasia (HHT) very often suffer from recurrent nosebleeds called epistaxis. There is no treatment currently available to reduce the frequency or severity of epistaxis. This research project will examine the effect of nintedanib, a capsule to be taken twice a day, on the frequency and severity of epistaxis in HHT. The study will take place at the Respiratory medicine department of the Lausanne University Hospital (Centre hospitalier universitaire vaudois, CHUV). The investigators will recruit about 48 participants with HHT, who will be divided in 2 groups. Each group will perform the same examinations and follow-up visits. The study will begin with 2 months of observation during which subjects will be asked to fill a diary to record the number and duration of epistaxis episodes. The diary will be filled daily for the entire duration of the study, i.e. 8 months. After 2 months of observation, the treatment phase will begin. Participants will take a capsule (nintedanib 150 mg or placebo) once a day for 2 weeks, then twice a day for 14 weeks. In case of intolerance at the dose of 2 capsules per day, the treatment may be reduced to 1 capsule per day. Subjects will also have to mention on the diary any blood transfusion, iron perfusion, and any symptoms they may be experiencing. Following the 16 weeks of treatment, an 8-week follow-up period will allow to observe the effects of nintedanib after the end of the treatment period, and to monitor any unexpected adverse events.

The purpose of this Phase 1b proof of concept study, randomised, placebo controlled, double blind, multicentre study is to asssess safety and efficacy of 2 doses of VAD044 in adult HHT patients

This pilot study is to determine the safety and efficacy of oral sirolimus (blood trough level 6-10ng/ml) in patients with HHT that are experiencing moderate or severe epistaxis. The effect of oral sirolimus on epistaxis will be compared to baseline using the Patient-Reported Outcome of cumulative weekly nose Bleeding Duration (PRO-CB). The PRO-CB association with biomarker variability over the duration of the study will be investigated. In the pilot study subjects will be treated with 2mg of sirolimus once daily to obtain a trough level of 6-10ng/ml for 3 months.

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.

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.

This is a Phase II placebo-controlled double-blind study of pomalidomide in patients with hereditary hemorrhagic telangiectasia (HHT) with moderate to severe epistaxis who have anemia and/or require parenteral iron infusions or blood transfusions. A total of 159 patients will be randomized 2:1 to treatment with oral pomalidomide or matching placebo for 24 weeks. Mean change from baseline to 24 weeks in the Epistaxis Severity Score (ESS) will be compared between treatment groups to determine pomalidomide efficacy.

The hepatic involvement of HHT (Hereditary Haemorrhagic Telangiectasia) disease is characterised by the formation of arterio-sus-hepatic shunts which lead to dilatation of the hepatic artery and may result in high output heart failure. This evolves silently for long-standing period from left ventricular cavities dilatation to advanced heart failure with post-capillary pulmonary hypertension (PH) (more rarely pre-capillary), and its evolution is poorly understood. The specific treatment options for HHT disease are either the use of anti-angiogenic therapy (bevacizumab) or liver transplantation. As rest echocardiography can only detect advanced cases or heart failure with rest PH, the investigators speculate that exercise echocardiography can provide additional information in patients without rest PH. The hypothesis is that an exaggerated pulmonary pressure increase during exercise may precede the occurrence of rest PH in the course of the disease. It could identify patients with substantial heart failure at an earlier stage and may facilitate the access to liver transplantation. These parameters have never been studied in this context and it seems interesting to evaluate them in this pilot study. The investigators hypothesise that HHT (Hereditary Haemorrhagic Telangiectasia) patients with hepatic involvement and cardiac high output will have significantly greater and/or earlier elevation of exercise pulmonary arterial pressures than those with normal cardiac output.

Hypophosphatemia induced by treatments with injectable iron is a frequent side effect already reported during marketing. Situations of osteomalacia secondary to these hypophosphatemias are rarer and reported in the form of case reports in the literature. Hypophosphatemia in this context is attributed to an excess of FGF-23 (defect of degradation linked to carbohydrates in martial preparations) with renal leakage of phosphate. Rendu-Osler disease (ROM) is an autosomal dominant genetic disease, favoring the formation of vascular malformations, including nasal and digestive telangiectasias causing repeated bleeding, even hemorrhages. Iron deficiency is frequent and profound there, and oral martial treatments are often insufficient to compensate for these losses. Regular iron infusions, to avoid transfusions, are often necessary.