View clinical trials related to Congenital Abnormalities.
Filter by:This study is being performed to document the outcomes of subjects using our MaxAn Anterior Cervical Plate and assess them for Adjacent level Disease. All subjects will be followed for 2 years.
STUDY OBJECTIVES: To demonstrate equivalent clinical and radiologic outcomes as "gold standard" (Autologous Bone Graft) in a representative clinical model (hindfoot fusions) STUDY HYPOTHESIS: Augment® Injectable is an equivalent bone grafting substitute to autologous bone graft in applications as shown by superiority analysis for safety and non-inferiority analysis for effectiveness STUDY RATIONALE: To evaluate a fully synthetic bone graft material to facilitate fusion in conditions or injuries requiring bone graft in a representative clinical fusion model and thus the opportunity to provide equivalent union rates as Autologous Bone Graft without necessitating an additional invasive procedure to harvest the graft
240 subjects with "high risk" adult spinal deformity requiring surgical correction will be enrolled in a prospective multi-center international study. "High risk" patients are defined by either their diagnoses and/or the type of surgical intervention as listed in the inclusion criteria. Neurologic complications in the form of new motor and sensory deficits will be monitored prospectively in all patients at hospital discharge, and at 6 weeks (± 2 weeks) six months (± 2 months) and 24 months(± 2 months) after the surgery. All new deficits will be adjudicated for relationship to the surgical intervention. Regression analyses will be used to evaluate the association between patient demographics, co morbidities, treatment history, spinal deformity characteristics, surgical characteristics, non-neurologic complications and pre-surgical status to occurrence of a neurologic deficit after surgery.
Background: - Congenital malformations, sometimes called birth defects, occur because of a difference in early human development. There are many different types of congenital malformations, and some of these can be caused by changes in genetic material. Researchers are interested in studying individuals with these congenital malformations to better understand the causes and the effects of certain congenital malformations. Objectives: - To understand more about what causes congenital malformations that arise in early human development. - To learn if genetic causes can be found to explain why a person has a congenital malformation. Eligibility: - Individuals who have been diagnosed with a congenital malformation. Design: - Participants will be seen at the National Institutes of Health for a series of visits over 3 to 4 days. Participants will be asked to provide copies of past medical records and test results for review, and will be asked questions about pregnancy/prenatal history, birth, newborn, medical, developmental, and family history. - Parents or siblings of participants may also be asked to provide information for research purposes. - Participants may have additional medical evaluations as part of this study, including any of the following tests: - Physical examinations - Other consultations as clinically indicated - Blood samples for genetic testing - Tissue biopsy for genetic testing - Photographs of affected areas, such as front and side views of the face and other body parts that may be involved in a congenital malformation, like the hands and feet. - Other tests as indicated by a specific malformation, such as organ ultrasounds. - No additional invasive testing, testing requiring sedation, or testing involving radiation is planned for this protocol. These tests, if performed, would involve a separate consent....
The purpose of this study is to determine whether Bosentan is an effective and safe treatment to adolescent and adult (15 years and older) patients, born with one ventricle of the heart instead of two (single ventricle physiology) and who have undergone TCPC as a palliative surgical treatment. The aim of the TCPC operation is to use the one functioning ventricle to pump the blood flow to the body, while the blood to the lungs is received directly from the caval veins, and is thus a passive flow, without the aid of a ventricle to actively pump the blood through the pulmonary circulation. The resistance in the pulmonary circulation is therefore critical to these patients. These patients have markedly lower work capacity in bicycle test than the general public. Furthermore they have a high risk of developing complications e.g. loss of protein from the intestines. Bosentan is a medication that lowers the resistance in the pulmonary circulation. It is routinely used for patients with pulmonary hypertension. Some studies have shown that drugs that lower the pulmonary resistance can increase exercise capacity significantly in patients with single ventricle physiology. In this study 80 patients will receive either placebo or Bosentan for 14 weeks. Before and after the treatment, bicycle test along with blood samples, stool samples and quality of life interviews will be performed. Every four weeks during the study blood samples, physical exam and interviews will be performed to ensure the safety of the treatment. The investigators expect to find a significant increase in work capacity after 14 weeks in the treatment group compared with the placebo group. Moreover the investigators hope to find a decrease in intestinal protein loss and an improved quality of life.
The aim of the study is to evaluate the efficacy of a specific maternal position to correct fetal position in occipito-posterior during the labor. The investigators hypothesize that the maternal position described by the Dr de Gasquet facilitate the rotation in occipito-anterior during the labor. The calculated sample size is 438 participants (219 in each group)
There is an unsatisfied medical need for a first-line treatment of lymphatic malformations with a good benefit/risk profile. Based on a patient experience in the institution, the investigators plan to verify whether or not the medication sildenafil has a beneficial effect on lymphatic malformations. The investigators plan to do this by treating patients with lymphatic malformations with the medication sildenafil for a 20 week period. This is an investigator initiated study funded by an Innovations in Patient Care grant and a SPARK grant.
A prospective population-based cohort study to examine whether varenicline use during pregnancy is associated with an increased risk of major congenital malformations in infants above that associated with smoking during pregnancy.
This study assessed the safety and efficacy of LDK378 in adult patients with genetic abnormalities in anaplastic lymphoma kinase (ALK).
Face transplantation surgery is the transfer of face tissue from a deceased human donor to a patient with a severe facial deformity. Face transplantation is an innovative reconstructive procedure that has the potential to significantly improve the lives of patients with severe facial injuries. The purpose of this study is to develop the best practices for facial transplantation that will improve the outcomes of future face transplant recipients.