View clinical trials related to Craniosynostosis.
Filter by:The purposes of this study are: - to better understand the experience of the announcement for the diagnostic of craniosynostosis to patients and their families to improve the understanding of it and it modes of appropriation - to compare the announcement process concerning "simple" and "complex" forms. - to identify the intra-family issues at the announcement of a genetic mutation. - to reconstruct the care course of patients by analyzing the time of the announcement and the post-operative period.
This research study is being performed to evaluate two different doses of Tranexamic acid (TXA) in children who have craniosynostosis and have been referred to Boston Children's Hospital for corrective surgery. This surgery is associated with significant blood loss and frequently requires the transfusion of blood. TXA is a medication that reduces the amount of bleeding during surgery by improving clotting of the blood at the surgical site. TXA is an FDA-approved drug that is routinely used in infants and children undergoing major surgery including heart surgery, craniofacial surgery and scoliosis surgery. It has been shown to decrease both the amount of bleeding and the amount of blood transfusion needed. We would like to compare the different doses of TXA to see if a lower dose has the same effect on blood loss as a higher dose. We are also interested to learn why TXA seems to work better in some patients than in others. In order to study the effect of this drug we would like to give this drug to your child and measure the blood loss and the volume of blood given to your child during his/her surgery. The research is being done at two sites; Boston Children's Hospital and Gaslini Children's Hospital in Genoa, Italy. The main study doctor from Boston Children's Hospital is Dr. Susan Goobie. The Department of Anesthesiology at Boston Children's Hospital is sponsoring this study. We are planning to study a total of 68 infants and children from age 3 months to 6 years old scheduled for open craniosynostosis surgery at Boston Children's Hospital or Gaslini Children's Hospital.
Craniosynostosis is a birth defect that causes the bones on a baby's head to fuse together earlier than normal. This causes the baby to have an abnormally shaped head. These children are operated on to prevent or treat increased pressure on the brain, allowing for normal development. There is not good evidence of which children with craniosynostosis have increased pressure on the brain. Up to twenty patients with craniofacial abnormalities will be enrolled in this pilot study. The investigators will use a magnetic resonance scanner to obtain several measures of brain metabolism. The investigators will also obtain data which are markers of developmental delay. The results will also be compared to age and gender matched data from children without craniofacial abnormalities. There study hypothesis is that patients with craniofacial abnormalities associated with intracranial pressure will have decreased metabolic activity compared to control patients.
Craniofacial reconstruction surgery involves a surgical approach to the craniofacial region to repair cranial vault and facial deformities. The surgery is extensive, often requiring wide scalp dissections and multiple osteotomies and has been associated with significant morbidity. Some of the most severe and commonly seen problems are associated with the rate and extent of blood loss. Efforts to minimize surgical bleeding may translate to reduced transfusion requirements and a lessening of associated risks Epsilon-aminocaproic acid (EACA), an inhibitor of fibrinolysis, reduces transfusion requirements in children undergoing procedures on cardiopulmonary bypass (CPB), as well as in older children undergoing spinal surgery for scoliosis (1-6). Before controlled studies to assess efficacy of EACA in a craniofacial surgical population can be done, appropriate pharmacokinetic (PK) data are needed to determine the optimal dosing strategy. PK data exist for EACA in children undergoing operations on CPB and hypothermia. The aim of this study is to determine the pharmacokinetics of EACA in infants and children undergoing craniofacial reconstruction procedures.
The primary objectives of this study are - to procure human temporalis muscle, subcutaneous adipose (fat), and bone tissue samples from children with craniosynostosis, - to grow cells from these tissues in vitro, - to evaluate the osteogenic potentials of these cell types.
This study will try to find the gene changes responsible for the birth defects in craniosynostosis, Philadelphia type. Craniosynostosis syndromes are a group of conditions that result from closure of one or more of the fibrous joints between the bones of the skull before brain growth is complete. Because of the premature closure, the brain is not able to grow in its natural shape; instead, it compensates with growth in areas of the skull where the joints have not yet closed. The defects in raniosynostosis, Philadelphia type, include skull malformations and webbing of the fingers and toes. Gene changes known to be involved in other craniosynostosis syndromes have not been found in the Philadelphia type syndrome. Therefore, finding the genetic basis of this disorder will provide important new information regarding craniofacial and limb development. This study includes members of a single large family affected with craniosynostosis, Philadelphia type. Participants have 1 to 2 teaspoons of blood drawn for genetic studies. A second blood sample may be requested for further research. Some blood may be used to establish a cell line for later studies. This involves growing the white blood cells from the blood sample. The cells can be kept in the laboratory to make more DNA or can be frozen for later use in craniosynostosis studies. Patients may also have their medical records reviewed.
This study will explore the range and type of medical and developmental problems in patients with Muenke syndrome, a condition that results when one or more of the suture between the bones of the skull close before birth. Because of the premature closure, the skull is not able to grow in its natural shape; instead, it compensates with growth in areas of the skull where the sutures have not yet closed. This can result in an abnormally shaped head, wide-set eyes, and flattened cheekbones. Patients may also have an enlarged head, abnormalities of the hands or feet, and hearing loss. The fibroblast growth factor receptor 3 (FGFR3) gene, which is involved in the development and maintenance of bone tissue, plays a role in Muenke syndrome. In some cases, the FGFR3 mutation is inherited from a parent with Muenke syndrome; in other cases, where there is no family history of the disorder, the mutation occurs anew. A better understanding of this gene may lead researchers to develop better treatments and genetic counseling for people affected by Muenke syndrome. Patients with Muenke syndrome and their blood relatives may be eligible for this study. Family members with confirmed Muenke syndrome will have genetic counseling, and patients undergo the following tests and procedures: - Review of medical records and test results. - Questionnaires about the patient's prenatal, birth, newborn, and past medical history; family history; growth and development; medications; and current therapies. - Physical, neurological, ear, nose and throat, dental, and eye examinations. - Neuropsychological testing to assess cognitive thinking abilities. - Hearing evaluation. This includes an audiology test in which the patients listens to soft tones through earphones; a power reflectance test in which a chirping sound is heard through an earpiece placed at the entrance to the ear canal, and possibly an ABR/ASSR test, in which electrodes are attached to the forehead, earlobes, and behind the ears to measure brain waves in response to certain conditions. - MRI scan of the brain. MRI uses a strong magnetic field and radio waves to produce detailed pictures of the brain. During the scan, the patient lies on a table in a narrow cylinder (the scanner), wearing ear plugs to muffle loud noises that occur with electrical switching of the magnetic fields. - MRI scan of the middle and inner ear. This test is similar to the MRI, but uses a dye injected in a vein to enhance the images. - CT scan of the skull. CT uses x-rays to produce 3-dimensional images of the part of the body studied. - Dental evaluation with x-rays. - Skeletal survey (x-rays of all bones of the body). - Developmental assessment of IQ testing. - Blood tests for research purposes. A cell line may be established for use in future research. - Medical photographs to demonstrate clinical features, including side and front views of the face, head, and other parts of the body that may be involved in Muenke syndrome, like the hands and feet. - Other consultations or tests as clinically indicated
To learn more about the cognitive and motor development of infants and young children born with a craniofacial defect called craniosynostosis.