View clinical trials related to Congenital Abnormalities.
Filter by:The purpose of this study is to find out if your adrenal glands are normal or abnormal. This can be determined by whether or not your adrenal gland concentrates more of a labeled building block of adrenal hormone, norcholesterol. This labeled material had been used as an investigative diagnostic tool for imaging adrenal glands for many years with success in our hands. This is a diagnostic procedure. CT, MRI and Ultrasound can determine the size and presence or absence of tumor but cannot assess the function of the adrenal glands. To determine hormone concentrations from blood samples would involve more invasive catherization.
The research purpose is to determine if thymus transplantation with immunosuppression is a safe and effective treatment for complete DiGeorge anomaly. The research includes studies to evaluate whether thymus transplantation results in complete DiGeorge anomaly subjects developing a normal immune system.
The study purpose is to determine if cultured thymus tissue implantation (CTTI) (previously described as transplantation) with tailored immunosuppression based on the recipient's pre-implantation T cell population is a safe and effective treatment for complete DiGeorge anomaly. This study will also evaluate whether cultured thymus tissue implantation and parathyroid transplantation with immunosuppression is a safe and effective treatment for complete DiGeorge anomaly and hypoparathyroidism.
To develop a non-invasive, simple and affordable, measurement technique to differentiate hemangiomas from subtypes of VMS. The purpose of this study is to determine the best office based diagnositc instrument for differentiating the subtype of vascular lesions. The instrument must be simple and affordable so it can be used by primary car physicians in the doctor office. The procedure will be based on non-invasive and unharmful measurements that will be compared to the diagnosis from specialized physicians in this field and the final pathology.
PURPOSE The purpose of this study is to learn more about multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT). MLT is a rare vascular disorder characterized by multiple congenital skin and visceral lesions, profound thrombocytopenia, and gastrointestinal bleeding. The skin lesions may appear red, brown or blue, often misdiagnosed as hemangiomas. The gastrointestinal tract, liver, and lungs are the most common internal organs involved. The severe thrombocytopenia (low platelets) is believed to be the result of platelet trapping within the skin and visceral vascular lesions. Severe and chronic gastrointestinal bleeding is common during infancy and early childhood. Although a relatively newly described entity, MLT was likely previously reported as hemangiomas, blue rubber bleb nevus syndrome, diffuse hemangiomatosis, Kasabach-Merritt phenomenon, and hereditary hemorrhagic telangiectasia. The term cutaneovisceral angiomatosis with thrombocytopenia is also a term used for this same disease. This study is a longitudinal cohort study of MLT to collect detailed clinical data on the distribution of disease, disease severity, and complications. This data will be used to create diagnostic criteria and an evaluation protocol for infants with this disease
One purpose of this study is to determine whether the amount of cultured thymus tissue implanted into DiGeorge anomaly infants has any effect on the immune outcome. Another purpose of this study is to determine whether parental parathyroid transplantation (in addition to cultured thymus tissue implantation (CTTI) can help both the immune and the calcium problems in DiGeorge infants with hypocalcemia. [Funding Source - FDA Office of Orphan Products Development (OOPD)]
Phase I of the study (motion and quality assurance [QA] study) is being used to determine intrafraction target motion and define quality assurance procedures for single fraction spinal radiosurgery. The Phase II portion of the study is being used to estimate the palliative response (pain or relief of neurologic symptoms) and local control for single fraction radiosurgery delivered with TomoTherapy and to assess the acute and late toxicity of spinal radiosurgery.
This study will investigate Ebstein's anomaly, a congenital abnormality of the tricuspid valve of the heart and try to identify the genetic origins of the disease. Adults and children 2 years of age and older with Ebstein's anomaly and healthy volunteers may be eligible for this study. Participants undergo the following procedures: - Blood tests: Three tube of blood will be collected, with the total amount limited to about half a teaspon for each two pounds of body weight. - Saliva sample collection: A small amount of saliva is collected by spitting into a sterile container. - Oral (cheek) swab: Cells are collected from the mouth using a soft brush to swab the inside lining of the cheek. - Electrocardiogram: The electrical activity of the heart is recorded using electrodes placed on the chest. - Echocardiogram: Heart function is assessed using ultrasound.
The purpose of this study is to evaluate the safety and efficacy of extended dosing of mipomersen in patients with familial hypercholesterolemia on lipid-lowering therapy who have completed either the 301012-CS8 (NCT00280995) or 301012-CS9 (NCT00281008) clinical drug trials.
This is a retrospective chart review study. The purpose of this study is to review our experience at Children's Healthcare of Atlanta in neonates receiving aprotinin. We will examine the specific outcomes of renal dysfunction, thrombosis and mortality.