View clinical trials related to Congenital Abnormalities.
Filter by:Rationale: The prevalence of adult patients with congenital heart disease (CHD) has steadily increased over the last decades, due to the advances in cardiac surgery. A large number of these patients cope with right ventricular (RV) volume or pressure overload, largely caused by residual lesions after cardiac surgery in childhood. Previous RV overload due to pulmonary regurgitation in Tetralogy of Fallot (TOF) can lead to RV dysfunction. These findings warrant close surveillance of RV function, and adequate and evidence-based pharmacological therapy to reduce both morbidity and mortality in this young patient group. The renin-angiotensin-aldosterone system (RAAS) is activated in patients with ventricular failure, irrespective of the effected (left or right) ventricle. Angiotensin converting enzyme (ACE) inhibitors and angiotensin II receptor blockers (ARB's) are drugs which act as inhibitors of RAAS. Previously, large trials have demonstrated the beneficial effect of angiotensin converting enzyme (ACE) inhibitors on morbidity and mortality in patients with acquired left ventricular (LV) dysfunction. ARB's have a similar effect as ACE inhibitors in patients with acquired LV dysfunction but discontinuation because of side effects such as cough is less frequent. In TOF patients with RV overload due to pulmonary regurgitation, pulmonary valve replacement leads to a decrease in RV size and pulmonary regurgitation. Current guidelines advise empiric use of RAAS inhibitors for right ventricular dysfunction in adult patients with congenital heart disease. However, the actual effect of RAAS inhibition on right ventricular dysfunction in adult TOF patients without severe valvular lesions has not been sufficiently investigated. Therefore, we set-up the proposed study, and hypothesize that ARB's have a beneficial effect on RV ejection fraction in adult TOF patients with RV dysfunction without severe valvular lesions. Objective: to improve RV ejection fraction in adult TOF patients with RV dysfunction without severe valvular lesions. Study design: a prospective, multicenter, double-blind, randomized, placebo-controlled trial. Follow up two years Study population: adult patients with Tetralogy of Fallot with right ventricular dysfunction, defined as right ventricular ejection fraction < 50% and without severe valvular lesions Intervention: patients are randomized to receive either losartan 150 mg once daily, or placebo in the same regimen. Main study parameters/endpoints: the primary endpoint is difference in change in RV ejection fraction, determined by cardiovascular magnetic resonance imaging (CMR), between the treatment and the control group at two years follow-up. Nature and extent of the burden and risks associated with participation, benefit and group relatedness: All investigations, except blood analysis, are non-invasive and free of risk. The burden for the patients mainly consists of the time that is consumed by the visits to the clinic. At these visits time will be consumed by: history taking and physical investigation (15 minutes); quality of life score (15 minutes); laboratory tests (6 times venopuncture, total amount of blood withdrawn approximately 90ml). Cardiopulmonary exercise testing (1hour), echocardiography (15 minutes) and CMR (45 minutes) are part of regular medical care. Adverse effects from losartan are usually limited and consist of dizziness due to hypotension, renal impairment, hyperkalemia and liver impairment. We expect no change or an increase in RV function in the intervention group compared to the control group over the two-year follow up period, which would be a great benefit for this young study population.
Background: The human face is critically important for breathing, eating, seeing, and speaking/ communicating, but its most important job may be to look like a human face. Devastating facial deformities often cause affected individuals to avoid human contact and disappear from society. Although current surgical advancements can somewhat restore facial defects, this process often requires many operations and the resulting face only resembles the human face. To date, over 20 face transplants have been performed with highly encouraging functional and aesthetic results, but widespread clinical use has been limited due to the adverse effects of life-long and high-dose immunosuppression needed to prevent graft rejection. Risks include infection, cancer, and metabolic problems, all of which can greatly affect recipients' quality of life, make the procedure riskier, and jeopardize the potential benefits of face transplantation. Study Design: This non-randomized, Phase II clinical trial will document the use of a new immunomodulatory protocol (aka - Pittsburgh Protocol, Starzl Protocol) for establishing face transplantation as a safe and effective reconstructive treatment for devastating injuries/ defects by minimizing maintenance immunosuppression therapy in face transplant patients. This protocol combines lymphocyte depletion with donor bone marrow cell infusion and has enabled graft survival using low doses of a single immunosuppressive drug followed by weaning of treatment. Initially designed for living-related solid organ donation, this regimen has been adapted for use with grafts donated by deceased donors. The investigators propose to perform 15 full or partial human face transplants employing this novel protocol. Specific Aims: 1) To establish face transplantation as a safe and effective reconstructive strategy for the treatment of devastating facial injuries/defects; 2) To reduce the risk of rejection and enable allograft survival while minimizing the requirement for long-term, high-dose, multi-drug immunosuppression. Significance of Research: Face transplantation could help injured individuals recover functionality, self-esteem, and the ability to reintegrate into family and social life as "whole" individuals. This protocol offers the potential for minimizing the morbidity of maintenance immunosuppression, thereby beneficially shifting the risk/benefit ratio of this life-enhancing procedure and enabling a wider clinical application of face transplantation.
This register study will collect the treatment information of the intracranial arteriovenous malformation patients in China. We aim to understand the current treatment situation of the disease in China.
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.
Cutaneous Arteriovenous malformations (AVM's) rare congenital high-flow vascular malformations in which arteries and veins are directly connected through a complex web of abnormal arteries and veins instead of a normal capillary network. Arterial feeders and enlarged draining veins directly connect through arteriovenous fistulas that create the "nidus". The natural history of AVMs is organized into a clinical staging system: during the first phase of quiescence, the arteriovenous malformation mimics a capillary malformation. After many years, the AVM may enlarge with loco-regional expansion and tissular destruction. At the ultimate stage, AVM may impact the heart function. They are considered non malignant but can expand and become a significant clinical risk when extensive. The management of these high flow AVM remains often problematic. Complete and large surgical excision of the nidus after hyperselective embolization is the only potential therapeutic solution but this, is often difficult if not impossible. There is no pathogenetic hypothesis for the development of these malformations. Histopathological examination (performed only on surgical resection specimen) is poor and does not provide sufficient evidence to assess the evolutivity or the severity of the MAV. Recent data hypothesize that these vascular malformations are associated with alterations of the vascular endothelium caused by genetic abnormalities involved in the control of angiogenesis and vascular homeostasis. The detection of these anomalies allows the search for cellular and genetic markers that might be useful to optimize the clinical classification, staging, predicting the evolution of these defects and some understanding of its pathophysiological mechanisms. To our knowledge, no studies to identify cellular markers / genetic and endothelial associated with the development of cutaneous AVMs have been published to date.
Cerebral cavernous malformations (CCMs) are clusters of abnormal blood vessels in the brain and spine. CCMs can bleed and cause strokes, seizures, and headaches. CCMs are often caused by an inherited gene mutation (alteration) in one of three CCM genes (CCM1, CCM2, or CCM3). There is a wide range of disease severity even among family members with this disease, though the natural history has not been clearly described for this particular population. This study will continue to enroll and follow participants with familial CCM to identify factors that influence CCM disease severity and progression, focusing on barriers to clinical trial preparedness. Our long-term goal is to identify measurable outcomes and robust biomarkers that will help select high-risk patients and help monitor drug response in future clinical trials. The specific goals of this study are to: - Identify factors that influence lesion progression to symptomatic hemorrhage and other outcomes, including quality of life; - Investigate the role of the gut microbiome and lesion burden in CCM disease, and - Identify blood biomarkers predictive of CCM disease severity and progression for clinical trials.
Little is known about the effect of fMRI navigation in the intracranial arteriovenous malformation surgery. The investigators aim to perform a multicenter prospective randomized single -blind clinical trial to assess the effect and safety of fMRI navigation in the brain arteriovenous malformation surgery.
This cross-sectional, non-interventional, and observational study will assess the lipid profile of patients who have been taking lipid-modifying drugs (i.e., proportion of patients achieving treatment to goal according to national and international lipid management guidelines) during a single visit to their physicians on an outpatient basis in 6 representative geo-economic regions in China: Northeast, North, East, South, Southwest, and Northwest; and within each region, in three tiers of hospitals: tier 3 (primary or teaching hospitals), tier 2 (secondary or city level hospitals), and tier 1 (community hospitals/health centers). The investigators will primarily be cardiologists, endocrinologists, neurologists, gerontologists, internists, or other physicians who are representative of the general population of physicians managing patients with dyslipidemia and/or at high risk for cardiovascular events likely to be treated with lipid-modifying drugs. Demographic data, cardiovascular risk factors, a history of cardiovascular disease and cardiovascular treatments will be documented in a single visit through patient clinical examination and chart review. DYSIS-China is part of a string of epidemiological studies that share the same master protocol, which has been conducted in different countries mainly in Europe and Canada. The analysis of the pooled studies including overall data and cross-country comparisons is the subject of a distinct protocol.
Cohort study evaluate the efficacy treatment with OK-432 in cystic malformation of the head and neck region. The malformations are macrocystic and the preevaluation will include CT/MRI, US and blood tests. The injection will be in the OR under US guided, maximal dose will be 0.2mg. The follow-up will be of short term - till 30 days post injection and long term - follow-up wil be till 2 years.
Patients with cirrhosis can have abnormalities in laboratory tests reflecting changes in primary and secondary haemostasis. Such changes have been considered particularly relevant in the bleeding complications that occur in cirrhosis. However, several studies have shown that routine diagnostic tests are not clinically useful to stratify bleeding risk in patients with cirrhosis. Moreover, treatments used to increase platelet count or to modulate platelet function could potentially do harm. Consequently the optimal management of bleeding complications is still a matter of discussion. Moreover, in the last two decades there has been an increased recognition that not only bleeding but also thrombosis complicates the clinical course of cirrhosis. Over the last years, emerge that in vivo platelet function and coagulation cascade might be modulated by an alteration of pro-oxidant and antioxidant balance. Thus It has previously been demonstrated that chronic liver diseases are characterized by increased oxidative stress state. Aim of the study is to analyse the relationship between oxidative stress, haemostatic balance and clinical complications in cirrhosis.