Active clinical trials for "Telangiectasis"

Ataxia-telangiectasia (A-T) is a multisystem auto-somal recessive disorder linked to the A-T mutated gene (ATM) on chromosome 11q22-23, and characterized by progressive neural degeneration, immunodeficiency, and progressive ocular motor dysfunction. In previous studies, the quantitative description of the ocular motor deficits from clinical examination was limited to various defects in saccade and gaze control, dysmetric saccades, impairments of smooth pursuit, gaze holding, convergence, vestibular and optokinetic nystagmus slow phases, and cancellation of the vestibulo-ocular reflex. The aim of our research is to add existing findings with quantitative description of oculomotor patterns in A-T patients using videooculography (VOG).

In this study the investigators will obtain histological samples from people with hereditary haemorrhagic telangiectasia (HHT, also known as Osler-Weber-Rendu Syndrome).

Hereditary Haemorrhagic Telangiectasia (HHT) is a rare inherited genetic disease of autosomal dominant inheritance with a prevalence of about 1/5000. It is manifested by haemorrhage, mucocutaneous telangiectasia and visceral arteriovenous malformations (AVMs) (lung, liver and nervous system). Severe complications during pregnancy in HHT are rare but considered high risk. Intracranial or pulmonary haemorrhage, stroke and heart failure have been reported in some women with HHT during pregnancy. These complications occur most often in the second and third trimesters when maternal physiological changes such as peripheral vasodilatation and increased cardiac output are at their peak. Previous retrospective studies were conducted with numbers ranging from 40 to 97 patients and highlighted the importance of early screening of complications and specific management. The aim of this study is to describe, on a larger number of patients, the obstetric and neonatal complications in patients with HHT and followed in the French Reference Center for HHT.

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.

OBJECTIVES: I. Collect data regarding the natural history of hereditary hemorrhagic telangiectasia (HHT). II. Establish genotype-phenotype correlations in HHT. III. Create a database of information for researchers throughout the world.

To conduct several studies on the epidemiology of venous disease.

Liver transplantation (LT) has been proposed as a curative treatment in hereditary hemorrhagic telangiectasia (HHT) with severe hepatic involvement. The investigating team provides a long-term evaluation of graft status after LT for HHT with a focus on the risk of recurrence. The present study included all patients prospectively followed up after LT for HHT in the Lyon Liver Transplant Unit from 1993 to 2010 with a survival of more than 1 year.

Hereditary Haemorrhagic Telangiectasia (HHT) is a rare inherited genetic disease of autosomal dominant inheritance with a prevalence of 1/6000. It is manifested by haemorrhages, mucocutaneous telangiectasias and visceral arteriovenous malformations. These symptoms significantly affect the daily lives of patients, their social relationships and their working lives. HAS (Haute Autorité de Santé) national recommendations focus on assessing and improving the quality of life (QOL) of patients. Many scales for measuring QOL exist but they are most often general and therefore have the disadvantage of not taking into account the particularities of pathologies and their symptoms and do not allow to have a precise vision of their impact on QOL. It is important to be able to evaluate this impact, to determine its nature and to quantify it so that health professional can adapt their proposal for the management of HHT patients. And only the development of a specific and validated QOL measurement scale will allow them to access this information. The aim of this study is to develop a scale of measurement of quality of life in HHT disease and to validate it, a scale specific to HHT, simple and fast to fill by the patients themselves.

The project will collect information on the mapping of clinical ratings on a number of scales that are used in the assessment of patients with ataxias.

A long-term follow-up cohort study of patients that were assigned in two previous studies to compare the clinical results of sclerotherapy of telangiectasias and reticular veins of lower limbs using 0.2% polidocanol diluted in 70% hypertonic glucose (PDHG) vs 75% hypertonic glucose (HG) alone. All women, previously treated as aforementioned, were invited to be reevaluated regarding late maintenance and pigmentation over two years of follow-up. No new treatments were applied to the cohort.