View clinical trials related to Congenital Abnormalities.
Filter by:This study aims to evaluate the safety and feasibility of coronary infusion of autologous placental cord blood mononuclear cells during the Norwood heart operation in newborn hypoplastic left heart syndrome (HLHS) patients.
The purpose of this project is to validate a quick, easy-to-use and administer smartphone hearing-in-noise test. The Hearing-in-Noise Test (HINT) measures an individual's ability to hear speech in quiet and in noise. HINTs are traditionally done testing both ears together as binaural hearing ability is key in noisy settings and everyday, functional hearing. The app (called HearMe) can potentially be used to easily and quickly collect hearing-in-noise and speech-in-noise measurements. The smartphone app developed is a hearing-in-noise test that presents the subject with a series of stimuli consisting of a spoken three-digit sequence presented at a varying hearing-to-noise ratio. For each stimulus presentation, the user tap the three-digit sequence. The duration of the app is less than 3 minutes. For this project the investigators will test at least 50 subjects with hearing loss and 50 control subjects between the ages of 18-80. The subjects will be invited to take the app. The approach for this pilot study is to characterize hearing-in-noise thresholds (also referred to as a speech-reception threshold) as measured by the app in both subject groups, and relate it to the phenotype of each group as a preliminary evaluation of the app as well as a preliminary validation against their routinely collected measurements of hearing function (pure-tone audiometry thresholds). The study will assess the validity of the test construct in measuring hearing-in-noise thresholds, and serve as a foundation for further iterative designs of the app and future validation and characterization studies. This study seeks to validate a developed smartphone HINT on an initial cohort of patients and controls. It is anticipated that patients with hearing loss will display higher signal-to-noise ratio thresholds (as measured by the iPhone app) compared to controls.
The SALMANTICOR study will obtain data on the prevalence and incidence of structural heart disease in a population setting. A cross-section survey of randomly selected residents of Salamanca (Spain) will be performed. A total of approximately 2400 individuals, stratifies by place of residence (rural and urban) and by age and sex will be studied. The variables to analyzed will be obtained from the clinical history, different surveys including social status, Mediterranean diet, functional capacity, electrocardiogram, echocardiogram and biochemical and genetic analysis. Surviving participants are expected to return for a 5 and 10-year follow-up visit.
The purpose of this study was to investigate whether the balanced fluids therapy change plasma osmolality in neurosurgical procedures due to brain tumors, meningeomas and arterio-venous malformation.
Standard of care for Lymphatic Malformations has been surgical excision. We have been using OK432/Picibanil (generously supplied by Chugai Pharmaceuticals in Japan) since 1992 with great success for macrocystic disease. The objective of the study was to provide OK-432 immunotherapy to subjects with macrocystic or mixed (> 50% macrocystic) lymphatic malformations (LMs) and investigate the efficacy and safety of OK 432 as a treatment option in subjects with LMs.
To assess the indications and diagnostic efficiency of whole genome sequencing (WGS) in pediatric patients with unexplained intellectual disability/developmental delay, multiple congenital abnormalities and other rare and undiagnosed diseases
The objective of this study is to further establish that SQUID, an alternative liquid embolic agent with specific properties, is a safe and effective alternative in bAVM endovascular treatment strategy available to date. Therefore, the performance of SQUID will be documented and its safety of use will be confirmed in current practice.
This is a national, prospective study designed to investigate the genetic etiologies of non-immune hydrops fetalis (NIHF) and other birth defects. At least half of prenatally diagnosed NIHF cases remain of unknown etiology after standard work up, and a substantial proportion of other birth defects remain of unknown etiology as well. The investigators are performing exome sequencing (ES) for the affected fetus or neonate in unexplained cases, as well as enrolling cases with a genetic explanation to represent the full spectrum of diseases underlying NIHF and other birth defects.
Congenital Heart Defects and NIRS
This is a First-in-Human (FIH), 2-part, Phase 1/2, open-label, multicenter study design to evaluate the safety, tolerability, PK, pharmacodynamics, PGx, and efficacy of TAS0728. This study consists of Phase 1 and Phase 2 components in subjects with advanced solid tumors with HER2 or HER3 overexpression, amplification, or mutation who have progressed despite standard therapy or for which no standard therapy exists, particularly urothelial cancer, biliary tract cancer, metastatic breast cancer, non-small cell lung cancer and colorectal cancer.