Active clinical trials for "Telangiectasis"

This study will evaluate the status of the growth hormone/ insulin-like growth factor-1 (GH/IGF-1) axis in relation to growth failure, body weight and composition and neuroprotection in children with Ataxia telangiectasia (AT).

This study will explore the factors that influence screening behaviors of adults diagnosed with hereditary hemorrhagic telangiectasia (HHT), an inherited condition in which blood vessel defects called arteriovenous malformations (AVMs) result in direct connections between arteries and veins. Patients most commonly have small AVMs called telangiectases on the tongue, face, hands, mouth, and throat and the mucosal linings of the nose and gastrointestinal tract. Recurrent nosebleeds are a hallmark of the disease. Large AVMs can also occur in various organs, causing sudden and life-threatening complications. The study will examine how patients think and feel about their condition and what actions they take to screen for internal symptoms of the disease. Men and women 18 years of age and older who have HHT may be eligible for this study. Participants fill out a 30-minute questionnaire, available in print or online, that includes questions about the participant s beliefs about HHT actions taken to screen for internal symptoms of HHT experience with HHT current health status, family history and demographic information

We will address coagulation parameters in hereditary haemorrhagic telangiectasia (HHT) compared to controls.

OBJECTIVES: I. Examine screening modalities for pulmonary vascular arteriovenous malformation (PAVM) in individuals with endoglin mutations. II. Examine the prevalence of cerebral arteriovenous malformations (CAVM) in individuals with hereditary hemorrhagic telangiectasia (HHT). III. Investigate whether modifier genes exist that determine which individuals with HHT due to an endoglin mutation develop PAVMs and which develop CAVMs. IV. Investigate the frequency of cardiac valve abnormalities in individuals affected with HHT due to an endoglin mutations.

To examine the biobehavioral determinants of obesity in Black as compared with white women.

Bevacizumab is widely prescribed for the treatment of severe bleeding related to epistaxis or gastrointestinal bleeding in HHT. We studied the efficacy of bevacizumab on severe bleeding in HHT patients in a randomized study recently published (NCT03227263, J Int Med 2023). In this study, 24 patients were included, 12 patients received bevacizumab and 12 patients received placebo. The duration of patient participation was 6 months, including the 2.5-month treatment period and 3.5 month follow-up after treatment. We describe the evolution of the number of RBC transfused in HHT patients who received bevacizumab during the year after the end of the study.

Hereditary hemorrhagic telangiectasia (HHT) results from genetic deregulation of angiogenesis. It is characterized by mucocutaneous telangiectasia responsible for recurrent epistaxis affecting quality of life (anaemia, iron deficiency, social distress). More rarely, HHT is complicated by the appearance of pulmonary, hepatic or cerebral arteriovenous malformations that can lead to serious complications: cerebrovascular accidents, cerebral abscesses, high output heart failure, and massive hemoptysis (1). The intensity of symptoms increases with age but with significant individual variability, even for the same mutation in the same family. Thus, while the mutations responsible for the disease have been identified, the pathophysiology is not fully understood because these mutations do not explain the great diversity of clinical presentations. Other factors not yet identified probably play an important role. Angiogenic T cells (TANG) are a newly individualized T cell population, defined by a CD4+CXCR4+CD31+ phenotype, which plays a key role in differentiating endothelial progenitors (2). In an earlier study, the investigators showed that patients with HHT had a decrease in CD4+ and CD8+ LT compared to a cohort of healthy subjects (3). They hypothesize that the lymphopenia mainly involves TANG, whose quantification could make it possible to assess the individual level of angiogenesis during HHT. The evaluation of the TANG levels could thus make it possible to personalize HHT management.

Macular telangiectasia type 2 ("MacTel Type 2") is an uncommon eye disorder that results in slow vision loss beginning in middle age. The macula is the central part of the retina, which lines the back of the eye like the film of a camera. The macula is responsible for central or reading vision. Telangiectasis refers to dilated, leaky vessels, for example varicose veins in the legs. One of the earliest manifestations of macular telangiectasia type 2 is an acquired reduction and/or redistribution of the macular pigment carotenoids at the foveal center. Currently, the biochemical mechanisms and clinical significance underlying these changes are not known, but it seems likely that better understanding of this phenomenon could lead to new interventions against MacTel. The objectives of this study are to image the maculas of MacTel subjects using two-wavelength autofluorescence imaging and resonance Raman imaging to target the 7-degree radius pigment ring characteristic of macular telangiectasia type 2 in order to gain further insight into the significance of this early clinical sign, and to evaluate whether supplementation with oral zeaxanthin can normalize macular pigment distribution in MacTel subjects

The purpose of this study is to see how the look of telangiectasias (small dilated blood vessels) on radiated breast skin when altered by the pulsed dye laser affects a patient's overall well being. Patients will have a set of treatments with a pulsed dye laser. This is a laser that targets red blood vessels and delivers heat causing the telangiectasias to become smaller and less visible. The laser has been used safely to treat telangiectasias on the skin of patients who received radiation for breast cancer. Patients in the study will be asked to complete a questionnaire asking how they feel about the telangiectasias, their radiated skin and its effect on their daily lives. The questionnaire will be given at every visit. The improvement in the look of patients' radiated skin will also be compared to answers to the questionnaire. We hope the study will improve our understanding of how patients feel about the long term effects of radiation on their skin.

Hereditary haemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is an inherited multisystemic disorder with recurrent epistaxis, mucocutaneous telangiectasia and visceral arteriovenous malformations. The purpose of this study is to provide data about multiple clinical aspects of HHT and responses to treatment. For comparison of some aspects also data of non-affected relatives is collected (second cohort). the questionnaire has been designed primarily for web based entry, but can also be circulated in paper format on request.