View clinical trials related to Telangiectasis.
Filter by:Study design: Single arm open-label clinical trial in ataxia-telangiectasia to test the effects of nicotinamide riboside on ataxia scales, immune function, and neurofilament light chain. Study population: 6-10 patients with Ataxia-Telangiectasia. Dose: Nicotinamide riboside 25 mg/kg/day in 3 equal divided doses. Primary endpoint: Scales for assessment and rating of ataxia (SARA), and International Cooperative Ataxia Rating Scale (ICARS). Improvement of at least ½ standard deviation in key clinical scales which includes either; a) significant improvement in total combined scores from the SARA and ICARS scales, and /or b) significant improvements any aspects of the SARA and ICARS scales individually, especially pertaining to; Postural and gait improvements, Improved syllable speed and articulation, Improved fine motor skills. Secondary endpoints: Serum analysis of neurofilament light chain (Nfl), Type 1 Interferon (INFs) epigenetic signature
Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler's disease, is a genetic disorder that leads to abnormal blood vessel formations. It primarily affects blood vessels in the skin, mucous membranes, and internal organs. The disease can be clinically diagnosed using the Curaçao criteria (1. Positive family history of HHT, 2. Recurrent and spontaneous epistaxis, 3. Multiple typical telangiectasias, 4. Organ involvement with vascular malformations, especially in the liver, lungs, gastrointestinal tract, or brain); if a patient meets at least 3 criteria, the diagnosis of HHT can be established. Patients with HHT often have telangiectasias on their faces. Additionally, many patients suffer from anemia, which can result in a pale and potentially tired appearance. Patients with HHT may be less satisfied with their appearance due to the aesthetic changes in their faces and may also experience psychosocial impairment. To further investigate this, various validated questionnaires (FACE-Q©, PROMIS-Profile-29+2, EQ5D), as well as routinely collected clinical data (e.g., laboratory values including hemoglobin levels, Curaçao criteria, smoking status, alcohol consumption, and the Epistaxis Severity Score (ESS)) will be used.
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.
This is an international, multi-center, randomized, prospective, double-blind, placebo-controlled, Phase 3 study, designed to assess the effect of EryDex (dexamethasone sodium phosphate [DSP] in autologous erythrocytes), administered by intravenous (IV) infusion once every 28 days, on neurological symptoms of patients with Ataxia Telangectasia (A-T).
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.
Purpose: To evaluate the sensitivity and specificity of the method for determining the clinical class of chronic venous diseases using the Ivenus application (within C0-C2 according to CEAP). Materials and methods: Patients who applied to several phlebology clinics for an initial consultation are consistently included in a multicenter prospective study. At the appointment, a doctor with at least 5 years of experience takes photographs of the lower extremities and uploads them to the IVENUS application, which automatically determines the clinical class according to CEAP, without showing the results to the surgeon (blinding). Further, the doctor independently determines the clinical class according to CEAP and enters the data into the register. The object of the study is a photograph of a certain area of the lower limb.
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.
With a described prevalence of brain arteriovenous malformations (CAVM) of 12.8% in HHT patients, of whom 10% presents with intracranial hemorrhage, HHT pose a risk of devastating intracranial hemorrhage. The main objective of the study is to challenge current statements (pros and cons) regarding systematic screening of asymptomatic HHT patients for neurovascular manifestations. The investigators are thus seeking to answer a question many screening programs have faced. A screening program should screen for a manageable problem, by a method that is considered cost effective and does not cause negative effect, even when extrapolated to a large cohort. Finally, the positive effect of screening program should outweigh the negative and not cause unnecessary concerns for the patients. The investigators are seeking to draw perspectives from the results to general questions about screening programs.
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.
The goal of this interventional study is to determine the incidence of depression, anxiety, sleep disturbances and resilience in a sample of subjects affected by Hereditary Hemorrhagic Telangiectasia. The study is declined through the evaluation of some outcome parameters at the time of enrollment (T0), during the counseling intervention (T1 and T2) and at the end (T3) of the subjects who will have carried out an individual counseling intervention.