Active clinical trials for "Congenital Abnormalities"

3D modeling associated with the tracking of nerve fibers meets the needs of preoperative planning for tumors and cervico-facial congenital malformations. Indeed, these lesions are closely related to the cranial nerves and in particular nerve V (infratemporal fossa), nerve VII (temporal bone, parotido-masseter region), nerves IX, X, XI, XII and the chain cervical sympathetic (infratemporal and cervical regions). The development of a model of this region will therefore improve the surgical management of these children.

Prematurely born children are at higher risk of cognitive impairments and behavioral disorders than full-term children. There is growing evidence of significant volumetric and shape abnormalities in subcortical structures of premature neonates, which may be associated to negative long-term neurodevelopmental outcomes. The general objective is to look directly at the long-term neurodevelopmental implications of these neonatal subcortical structures abnormalities. Investigators propose to develop biomarkers of prematurity by comparing the morphological and diffusion properties of subcortical structures between preterm, with and without associated brain injuries, and full-term neonates using brain MRI. By combining subcortical morphological and diffusion properties, investigators hypothesize to be able to: (1) delineate specific correlative relationships between structures regionally and differentially affected by normal maturation and different patterns of white matter injury, and (2) improve the specificity of neuroimaging to predict neurodevelopmental outcomes earlier. The specific aims and general methodology are: 1) Build a new toolbox for neonatal subcortical structures analyses that combine a group lasso-based analysis of significant regions of shape changes, a structural correlation network analysis, a neonatal tractography, and tensor-based analysis on tracts; 2) Ascertain biomarkers of prematurity in neonates with different patterns of abnormalities using correlational and connectivity analysis within and between structures features; 3) Assess the predictive potential of subcortical imaging on neurodevelopmental outcomes by correlating neonatal imaging results with long-term neurodevelopmental scores at 9 and 18 months, and 6-8 years, follow-up. In each of these aims, investigators will use advanced neuroimaging analysis developed by their group and collaborator, including multivariate tensor-based morphometry and multivariate tract-based analysis. This application will provide the first complete subcortical network analysis in both term and preterm neonates. In the first study of its kind for prematurity, investigators will use sparse and multi-task learning to determine which of the biomarkers of prematurity at birth are the best predictors of long-term outcome. Once implemented, these methods will be available to compare subcortical structures for other pathologies in newborns and children.

The purpose of this pilot study is to evaluate the disease-modifying efficacy of lovastatin in patients with brain arteriovenous malformation.

The present study was designed to evaluate bowel function in preschool and early childhood in a large number of patients with anorectal Malformation and to identify the associated risk factors for bowel dysfunction.

The objective of this study is the development, implementation and management of a registry of patient data that captures clinically meaningful, real-world, data on the diagnosis, nature, course of infection, treatment(s) and outcomes in patients with complex disease globally.

The purpose of this study is to get a better understanding of the clinical implications (including reproductive problems and obstetric complications), appropriate diagnostic tools and correct surgical treatment of Mullerian anomalies.

Cerebral Arteriovenous malformations (AVMs) are abnormal tangles which are usually believed congenital. AVM can cause different symptoms depending on where it is located, but the most common symptoms are intracranial hemorrhage and seizure. Outcomes of AVM patients can be very different due to factors like the location of lesion, age, sex etc. Generally, more early the intervention was taken, the risk of adverse events would be lower. But the selection of surgical timing for pediatric AVM patients is hard to judge, due to children's cerebral vessels angioarchitecture can be still developing with their age. Some previous studies indicated that there is no difference in intervention outcomes between pediatric and adult AVM patients, so pediatric patients should undergo more aggressive intervention. DOPA study aims to compare the clinical intervention outcomes of both pediatric and adult patients with eloquent region cerebral arteriovenous malformations, helping to determine the treatment strategy.

An anomalous coronary artery from the opposite sinus of Valsalva (ACAOS) represents a congenital disorder with an anomalous location and/or course of the coronary vessel. The prevalence of ACAOS in the general population is around 1 % and they are mostly clinically insignificant and remain often undetected. However, some variants of ACAOS are associated with adverse cardiac events. The possible presence of an interarterial/intramural course is the primary cause for an oval proximal vessel shape and/or proximal vessel narrowing, which may lead under stress conditions to a "dynamic compression" of the vessel (compared to "fixed" stenosis in coronary artery disease). To mimic these conditions, dobutamine and volume challenge is used to invasively measure fractional flow reserve (FFR) during coronary angiography and is seen as the gold standard in assessing the hemodynamic relevance of ACAOS. We established a specialized interdisciplinary clinic for coronary artery anomalies including imaging specialists, invasive cardiologists and congenital heart disease surgeons as correct downstream testing and treatment decision is highly challenging in these patients. Thus, systematic collecting of all available diagnostic methods (invasive and non-invasive) is required to assess the optimal diagnostic procedure and treatment for these patients. Coronary computed tomography angiography (CCTA) is the method of choice to characterize the exact anatomy of ACAOS. However, how functional invasive FFR is associated with anatomical CCTA findings is unknown. Further, diagnostic accuracy of a novel independent research algorithm with computational fluid dynamics (ctFFR) as well as functional imaging (i.e. stress single photon emission computed tomography) in this specific setting is unknown. The presented project will help to understand the pathophysiology of CAAs with particular focus on ACAOS-IC and improve risk stratification based on non-invasive imaging.

Foot deformities are one of the most common orthopedic problems in patients with cerebral palsy(CP). Various methods have been proposed to evaluate foot morphology. Arch height index (AHI) measurement is a simple and quantitative method that can be applied in outpatient settings to evaluate the morphology of the medial longitudinal arch(MLA) of the foot. In this study, we aim to investigate the feasibility of AHI measurement in children with CP and, to identify other clinical findings that may be related to foot arch height determined by the AHI method.

The MiMBa (Malaria in Mothers and Babies) Pregnancy Registry aims to generate robust evidence on the safety of a range of antimalarials when used in pregnancy, particularly in the first trimester. This will be a multi-country observational study and will be deployed in several field sites in Africa.