Clinical Trials About "Congenital Disorders" RSS

20:07 EDT 15th September 2019 | BioPortfolio

We list hundreds of Clinical Trials about "Congenital Disorders" on BioPortfolio. We draw our references from global clinical trials data listed on and refresh our database daily.

More Information about "Congenital Disorders" on BioPortfolio

We have published hundreds of Congenital Disorders news stories on BioPortfolio along with dozens of Congenital Disorders Clinical Trials and PubMed Articles about Congenital Disorders for you to read. In addition to the medical data, news and clinical trials, BioPortfolio also has a large collection of Congenital Disorders Companies in our database. You can also find out about relevant Congenital Disorders Drugs and Medications on this site too.

Showing "Congenital Disorders" Clinical Trials 1–25 of 6,700+


Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation

The goal of this study is to better characterize the metabolic alterations and sugar structure alterations (glycosylation abnormalities) in patients diagnosed with Congenital Disorders of Glycosylation. The investigators aim to assess the safety and tolerability of oral galactose treatment in a small pilot group of Congenital Disorders of Glycosylation patients. The investigators will also determine the relationship between simple milk sugar intake (galactose dose) in the diet ...

Neurodevelopmental Disorders in Children With Congenital Heart Disease

Children with congenital heart disease are at risk for neurodevelopmental disorders that will impact their quality of life and their integration into society. The aim of this study is to detect neurodevelopmental disorders of children with congenital heart disease aged from 6 to 66 months in Nord-Pas-De-Calais (France), to evaluate their frequency and risk factors for a better follow-up. This study will help to implement a specific program for evaluation and management of ...

Breast Milk and Congenital Gastrointestinal Disorders

This study aims to identify whether an all breast milk (BM) diet would improve outcomes in neonates with congenital gastrointestinal disorders (CGD) by facilitating an earlier transition off of parenteral nutrition (PN).

"Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects"

The objective of the study is to investigate congenital disorders of glycosylation in congenital heart diseases without a clear molecular or genetic basis.

Assesment of Olfactory Disorders and Performance of a New Olfactory Test in Children With Congenital CMV

CMV lesions were found in the olfactory system of children with congenital CMV infection but no study has hitherto examined the impact of congenital CMV infection on olfaction. So the investigators propose in this study to assess the proportion of children with olfactory deficits among children with congenital CMV infection. Second this study will also evaluate performances of a new olfactory test, based on discrimination of binary odorant mixtures.

Study of Hemostasis in Patients With Congenital Disorder of Glycosylation

The purpose of this study is to investigate the coagulation balance in a cohort of congenital disorder of glycosylation (CDG) patients using conventional tests combined with an integrated approach of their coagulation disorders in using TGA in the absence or presence of sTM. Thus, investigators aimed to define if the hemostatic balance in CDG patients, is preserved despite of combined deficiencies in both procoagulant and anticoagulant factors.

Pregnancy and Fibrinogen Disorders

The aim of this observational study is to evaluate the prevalence of uncomplicated pregnancies in women suffering from congenital fibrinogen disorders (i.e, hypofibrinogenemia, dysfibrinogenemia, hypodysfibrinogenemia) as well as to describe pregnancies outcomes in such diseases.

Infant Medical Records: Case Report Proposal

Infants with congenital long QT syndrome (LQTS) and 2:1 atrioventricular block (AVB) have been recognized as a clinical subset of children with LQTS. The purpose of this study is to describe the clinical course and outcome of a patient with congenital long QT syndrome (LQTS).

Outcomes of Children With Congenital Single Ventricle Heart

Congenital heart disease affects 1 in 100 newborn babies each year and more than 2,000,000 Americans have a congenital heart defect. One common defect treated at Children's Healthcare of Atlanta at Egleston is single ventricle heart. Due to these overwhelming numbers, the use of diagnostic imaging technology to assess these defects and heart function is an important step in the evolving care of this patient group.

A Safety and Tolerability Study of Topical PAT-001 in Congenital Ichthyosis

Congenital ichthyosis (CI) is a large, heterogeneous family of inherited skin disorders of cornification resulting from an abnormality of skin keratinization, such as scaling and thickening of the skin. Treatment options include keratolytic agents, which can abruptly lead to extensive shedding or peeling of scales. PAT-001 primarily acts as a keratolytic agent; thus, making it a potential drug candidate for the treatment of skin disorders associated with hyperkeratinization, su...

Eisenmenger's Syndrome in Adults With CHD

Review the outcome of treatment with endothelin receptor antagonists (bosentan or sitaxsetan) alone or in combination with Sildenafil (a PDE-5 inhibitor) in adult patients with pulmonary hypertension due to congenital heart disease.

Adult Congenital Heart Disease Surgery

It is now estimated that the number of adults with congenital heart disease in the U.S is over 800,000. Unfortunately, these patients, in some way, have become a lost population. They have congenital abnormalities familiar to a children's hospital, yet have surpassed the age cutoff for admission. Recently, we have developed a specialized program to care for this unique patient population. Dedicated programs such as ours hope to optimize patient care, consolidate specia...

Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases

The aim of this study is the identification of familial congenital arrhythmogenic disorders and their clinical follow-up.

Percutaneous Interventions in Adults With CHD

The primary objective of this study is to determine the clinical benefits of percutaneous intervention to improve pulmonary blood flow on oxygen saturations, symptoms, exercise tolerance and hematocrit in patients with complex cyanotic congenital heart disease who are not candidates for surgical repair.

MRI Versus Four Dimensional Ultrasound in Detection of CNS Fetal Congenital Anomalies

Congenital central nervous system (CNS) anomalies are common and most devastating. They occur in frequency of about 1.4 to 1.6 per 1000 live births but are seen in about 3-6% of still births.They account for 40% of deaths of all infants in the first year of life. In survivors, they cause a variety of neurological disorders, mental retardation or drug resistant epilepsy. CNS anomalies are usually compatible with life, prolonged hospitalization, higher health care costs, u...

Linear Growth of Children With Congenital Adrenal Hyperplasia

The congenital adrenal hyperplasias (CAHs) comprise a family of autosomal recessive disorders that disrupt adrenal steroidogenesis. Three specific enzyme deficiencies are associated with virilization of affected women. The most common form is 21-hydroxylase deficiency (21-OHD) due to mutations in the 21-hydroxylase (CYP21A2) gene. Other virilizing forms include 3b-hydroxysteroid dehydrogenase type 2 (HSD3B2) and 11b-hydroxylase deficiencies associated with mutations in the HSD3...

Screening for Genes in Patients With Congenital Neutropenia

Syndromic congenital neutropenia (SCN) includes a heterogeneous group of diseases characterized by congenital neutropenia associated with the involvement of other organs. Most patients have syndromic congenital neutropenia, which does not correspond, either clinically or genetically, to any other previously described form. A large number of genes still have to be identified in these syndromic forms. The aim of this study is to identify the molecular bases of congenital neutrop...

Prospective Study of the Diagnostic and Therapeutic Management of Congenital Glaucoma in France

Evidence of a relationship between age at discovery of congenital glaucoma and visual acuity at 4 years of age. The delay in diagnosis is a factor of poor visual acuity. Will justify the implementation of information programs with health and education professionals in order to improve the functional prognosis of patients with congenital glaucoma.

Compassionate Use of SOM230 for Hyperinsulinemic/Hypoglycemia

Congenital hyperinsulinism is a rare condition that can cause life-threatening hypoglycemia. Current treatment for congenital hyperinsulinism is often suboptimal, and such individuals may respond to a new somatostatin analog, pasireotide. This is a compassionate use study of the effects of pasireotide on individuals with suboptimally treated congenital hyperinsulinism.

Epidemiology and Prevention of Congenital HCMV in Immune Mothers. Congenital HCMV Infection Lombardy

Human cytomegalovirus (HCMV) is the leading infectious agent causing congenital disabilities such as mental retardation, psychomotor delay, hearing loss, speech and language disabilities, behavioural disorders and visual impairment. About 0.6% newborns are HCMV-congenitally infected and, among these, about 20% are symptomatic at birth or will develop long-term sequelae. The public health impact of congenital HCMV is substantial although greatly unrecognized. In Italy, estimated...

Efficacy and Safety of Tideglusib in Congenital Myotonic Dystrophy

This is a randomized, multicenter, double-blind, placebo-controlled, Phase 2/3 study of patients (aged 6 to 16 years) diagnosed with Congenital Myotonic Dystrophy (Congenital DM1).

Research for Genetic Factors Involved in Congenital Dislocation of Hip: Genome-wide Association Study in Grand West France

The main objective is to identify the genes involved in congenital dislocation of the hip. The secondary objectives are to measure the association between mechanical risk factors and congenital dislocation of hip and study the interactions between these factors and genetic factors.

Type of Material in Repair of Congenital Diaphragmatic Hernia

The objective of this study is to evaluate the use of 2 different types of biosynthetic material for the repair of congenital diaphragmatic hernia. The research question is: what is the best material for repairing large congenital diaphragmatic hernias? The primary outcome variable is recurrence.

Screening For Critical Congenital Anomalies In NICU And Their Out Come

The congenital malformation (CMF) include disturbance in normal process of organogenesis occurring before birth . - The (CMF) are structural ,functional, or (biochemical Molecular) defect presenting at birth. - The structural defect resulting from prenatal insult during period of embryogeneses. - The neonate with congenital malformation have differences in physiology, anatomy, in response to stress. - The (CMF) are important causes of infan...

Transition From Adolescents to Adulthood for Patients With Congenital Heart Diseases

We aim to measure the impact of a transition program in congenital cardiology in terms of health-related quality of life.

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