View clinical trials related to Neural Tube Defects.
Filter by:Spina bifida is a neurological abnormality characterized by an opening in the skin and exposure of the spinal cord on the back of the baby at the time of birth. The complete closure and separation of the spinal cord from the skin occurs in the first month of pregnancy. This form of spina bifida is associated with leg weakness, sensation loss, and bowel and bladder incontinence. The majority of patients (>80%) also develop increased fluid in the brain, called hydrocephalus, and require additional surgery to treat this problem. Standard treatment of myelomeningocele (MMC) involves closing the opening in the back within the first 3 days of life. The surgery releases the spinal cord from the skin and brings the skin edges together to prevent infection and injury to the exposed nerves. Of note, this type of surgery does not improve function. The investigators want to study the open in-utero fetal surgery technique in patients who are candidates for the standard open fetal repair technique but have a pre-pregnancy BMI of 35.0-40.0. The latter is a reason for exclusion for open fetal repair in most centers in the United States.
This study will assess the benefits of using mobile health system designed for individuals with chronic and complex health conditions (such as those with Spinal Cord Injury,Cerebral Palsy, Spina Bifida, and Traumatic Brain Injury) to improve their wellness and self-management skills compared to those who receive standard of care only.
The purpose of the study is to evaluate the maternal and fetal outcomes of a new technique for the fetoscopic repair of fetal MMC at Texas Children's Hospital Pavilion for Women. The investigators hypothesis is that this minimally invasive technique is feasible, and that this approach will have the same efficacy as open fetal surgery for MMC, but with significantly less maternal-fetal risk. Both mother and baby will benefit from the surgery. The fetus will have a repaired MMC defect, and the mother will not have a uterine incision (hysterotomy). A hysterotomy increases the risk of uterine rupture and requires that all subsequent deliveries are by cesarean section. There may also be a decreased risk of Pre-term Premature Rupture Of Membranes (PPROM) and prematurity when compared with the current open operation. Finally, a vaginal delivery is possible following the fetoscopic fetal surgery if the baby is shown to have a skin covered repair.
- Purpose of study : to determine the preventive effect of acetazolamide administration, prone positioning, and the combination of both following the neurosurgical interventions in lumbosacral region for cerebrospinal fluid (CSF) leak, CSF collection and wound dehiscence. - Sample size: 144 - intervention groups: - Group A: Acetazolamide administration for 10 days - Group B: prone positioning for 10 days - Group C: Acetazolamide administration and prone positioning for 10 days - Group D: no intervention - Period of study: Autumn 2012 to the end of winter of 2015
The purpose of this study is to determine if there is a difference in the short term response in serum folate after a single dose of folic acid in normal weight and obese women of childbearing age.
Allogeneic stem cell transplantation (transplant of blood cells from another individual) is a treatment option for patients with myelodysplasia or myeloproliferative Disorders. During the course of this study, it will be evaluated whether a particular type of blood cell, called a cytokine-induced killer (CIK) cell, may add benefit to allogeneic stem cell transplantation. CIK cells are present in small quantities in the bloodstream but their numbers can be expanded after a brief period of nurturing in a laboratory.
The Genetics of Neural Tube Defects Study at the University of Miami: The University of Miami John P. Hussman Institute for Human Genomics is looking for families to participate in research to identify the genetic and environmental factors that contribute to Neural Tube Defects (NTD). Our research goal is to better understand the genetic and environmental causes of both open NTD, like spina bifida and anencephaly, and closed NTD, like lipomeningocele and tethered cord. This will eventually lead to more accurate genetic counseling and risk assessment, improved treatments, and better prevention methods. Any individual with a diagnosis of NTD and his/her selected family members can participate, if willing. Participation is free. Travel is not required. Participation involves reading and signing a consent form, providing a blood sample, a family and medical history interview, and granting the research staff permission to review the medical records of the individual(s) with NTD. We maintain the highest standards of confidentiality for all families. If interested, please contact Maria Ciliberti, the study coordinator, at 1-877-686-6444 (toll free) or directly at 305-243-4360, or by email Mciliberti@med.miami.edu . Please visit our web site at www.hihg.org for more information.
Neural Tube Defects (NTDs) are multifactorial (genetic/environmental) diseases that arise from failure of embryonic neural tube closure. Several studies have demonstrated that periconceptional administration of folic acid can prevent approximately 70% of all NTDs cases. The finding of several NTDs cases in a single family, despite prophylactic therapy with folic acid, suggested that a proportion of human NTDs are folate-resistant. So far, no preventive therapy for folate-resistant NTDs is available. Studies performed on folate-resistant NTDs animal models have shown that inositol is effective in preventing NTDs occurrence. Preliminary results in patients with at least two previous pregnancies affected by NTDs, despite folic acid supplementation, indicate that periconceptional treatment with 500 mg/day of inositol (three months before conception and two months after) is able to prevent NTDs recurrence in humans. Recently, caffeine intake (more than 10 mg/day) has been associated with an increased risk of NTDs, especially for subgroups of people that carry genetic variants for enzymes involved in caffeine metabolism. The teratogenic effects of caffeine are known since the 70s. Indeed, gynecologists suggest to pregnant women to avoid/reduce caffeine intake. It is still unknown, however, whether pre-conception caffeine intake interferes with prophylactic therapy for NTDs. In the proposed study, we aim to evaluate the effect of "espresso" consumption (corresponding to about 100 mg caffeine) on the pharmacokinetics of oral administered myo-inositol (MI), in order to highlight any possible negative effects of caffeine on MI adsorption and excretion before conception. The study will consist of two phases and will be carried on twelve healthy volunteers. During phase 1, volunteers will be kept for 15 days under inositol-poor diet; at the end of this period, 20 g of MI will be administrated in a single dose. Basal levels of serum and urinary concentration will be evaluated before MI administration (t0); subsequently, sampling will be performed 2, 4, 6 and 8 hours after MI administration. Phase 2 will consist of 15 additional days of inositol-poor diet: basal levels of MI will be again measured before MI administration. In phase 2, MI administration will be concomitant to caffeine exposure through single"espresso" consumption. Samples will be collected at the same time points as in phase 1.
This project will describe and evaluate the impact of a unique partnership model designed to coordinate transfer of care by formally linking pediatric and adult heath care services. The experiences of young people receiving this model of care will be compared and contrasted against the experiences of young people receiving the current standard of care. Young people with a diagnosis of Cerebral Palsy (CP), Acquired Brain Injury in childhood (ABIc), and Spina Bifida (SB) will be followed during the transition period. Preparation for transition, health care, and transfer of care service delivery will be detailed in a process evaluation. An outcome evaluation will measure the ability of the two models of service to enable youth to maintain continuity within the health care system after transitioning from pediatric to adult care. Secondary outcomes, including how health, well-being, social participation, transition readiness, and health care utilization are affected will also be explored.
The purpose of this study is to investigate the level of functional independence and the quality of life of adolescents and young adults with spina bifid in an Italian population.