Clinical Research Directory

Sleep-disordered Breathing in Infants With Myelomeningocele

This study aims to determine whether the risk for sleep-disordered breathing in infants with myelomeningocele (a severe form of spina bifida) differs among those who underwent fetal vs. postnatal surgery, and to examine the link between sleep-disordered breathing and neurodevelopment.

Operating Room Extubation and Postoperative Outcomes in Neonates With Meningomyelocele

Meningomyelocele is one of the most common neural tube defects requiring surgical repair in the neonatal period. Postoperative respiratory complications and the need for prolonged mechanical ventilation are important causes of morbidity in these patients. The timing of extubation may influence postoperative respiratory outcomes and the duration of neonatal intensive care unit (NICU) stay. This retrospective cohort study aims to evaluate the impact of operating room extubation on postoperative outcomes in neonates undergoing meningomyelocele repair at Gaziantep City Hospital. Clinical, laboratory, and perioperative data will be obtained from hospital records. Postoperative mechanical ventilation requirement, duration of ventilation, NICU length of stay, and perioperative laboratory changes will be compared between neonates extubated in the operating room and those extubated in the intensive care unit.

Cellular Therapy for In Utero Repair of Myelomeningocele - The CuRe Trial

Spina bifida, or myelomeningocele (MMC), is a birth defect that results in paralysis, excess fluid on the brain (hydrocephalus), and impaired ability to urinate and have bowel movements normally. In a previous study (the MOMS trial), surgery before birth (in-utero/fetal surgery) was shown to reduce the need for shunting for hydrocephalus. There was also some improvement in ambulation, but 58 % of the children still could not walk unassisted. This study is testing living stem cells from placenta added to the fetal repair in an effort to improve the ability to walk. Previous animal studies have shown dramatic improvement in walking and bowel and bladder function when placental stem cells are added to MMC repair. Use of these "living" cells may protect the developing spinal cord, prevent further injury, and may even reverse existing damage to the nerves that control movement. This study is assessing the safety and efficacy of adding stem cells to open fetal surgery for MMC in humans.

Fetoscopic Repair of Isolated Fetal Spina Bifida

The purpose of this investigation is to evaluate maternal and fetal outcomes following fetoscopic repair of fetal spina bifida at the Johns Hopkins Hospital. The hypothesis of this study is that fetoscopic spina bifida repair is feasible and has the same effectiveness as open repair of fetal spina bifida, but with the benefit of significantly lower maternal and fetal complication rates. The fetal benefit of the procedure will be the prenatal repair of spina bifida. The maternal benefit of fetoscopic spina bifida repair will be the avoidance of a large uterine incision. This type of incision increases the risk of uterine rupture and requires that all future deliveries are by cesarean section. The use of the minimally invasive fetoscopic surgical technique may also lower the risk of preterm premature rupture of membranes and preterm birth compared to open fetal surgery. Finally, successful fetoscopic spina bifida repair also makes vaginal delivery possible.

Transcutaneous Spinal Stimulation for Children and Youth With Spina Bifida

A study to use transcutaneous spinal cord stimulation to characterize sensorimotor deficits in a pediatric population of individuals with spina bifida.

Incontinence and Quality of Life in Children With Spina Bifida

This study aims to develop an innovative, interactive tool for joint use by spina bifida patients and their urologists to identify patients interested in addressing their urinary and fecal incontinence and establish continence goal(s) they would like to achieve. To date, no such tool exists for use by spina bifida patients or urologists. This represents a major paradigm shift in the urologic care of pediatric SB patients. It will give children and families a voice in setting their personal goals for urinary and fecal incontinence, rather than relying on physicians' traditional clinical targets (e.g., absence of urinary incontinence, 4-hour dry interval). These traditional views fail to reflect the full patient experience of their ailment by underestimating symptoms and prioritizing only the most severe. This study represents the first time that such a process will be formalized before initiating urological therapy in children with SB (Aim 2). Additionally, this tool may help rule out interventions with a low chance of achieving desired goals and allow for a recalibration of unrealistic goals. The app will be useful for any child, regardless of urinary and fecal incontinence treatment history or underlying bladder pathology, as it will help describe personalized clinical treatment goals based on urinary incontinence, a characteristic all these patients share. This study will also capture the health-related quality of life (HRQOL) impact of urinary and fecal incontinence improvement regardless of the treatment, whether behavioral, medical or surgical, many of which are available to patients regardless of age. A systematic therapeutic goal-setting tool will help in bringing precision medicine to the SB population.

Fetoscopic NEOX Cord 1K® Spina Bifida Repair

To fetoscopically use cryopreserved human umbilical cord allografts, named NEOX Cord 1K®, as a spinal cord cover of spina bifida defects. This procedure will be performed to create a watertight seal covering over the spinal cord in order to decrease the incidence rates of postnatal morbidities. For larger skin defects, NEOX Cord 1K® may be used as a skin cover.

Cryopreserved Human Umbilical Cord as a Meningeal Patch in Fetoscopic Spina Bifida Repair

The objective is to test the efficacy of a laparotomy-assisted fetoscopic surgical approach to cover spina bifida spinal cord developmental defects using cryopreserved human umbilical cords (NEOX Cord 1K®) as a meningeal and skin patch.

Prenatal and Postnatal Ultrasonographic Evaluation of Myelomeningocele to Predict Post-Surgical Outcomes

Myelomeningocele (MMC), also known as open spina bifida, is a serious congenital condition in which the cord and meninges protrude through the spinal column's defective bony encasement due to a defective closure of the posterior portion of the neural tube between the fourth week of pregnancy.

In-Utero Endoscopic Correction of Spina Bifida

The purpose of this study is to evaluate the feasibility and effectiveness of performing fetoscopic surgical correction of fetal spina bifida. Two surgical approaches will be utilized: the percutaneous technique versus the laparotomy/uterine exteriorization technique.

In Utero Surgery for Fetal Myelomeningocele: Decision-making Mechanisms and Psychological Impact of Prenatal Therapy

Myelomeningocele is a malformation of the spine and spinal cord, generally diagnosed prenatally, and responsible for a complex disability for the unborn child. In the event of continued pregnancy, in utero surgery can be performed to improve the prognosis of the children. This fetal therapy does not allow a cure and induces risks for the fetus, and for the mother, both during surgery and for her obstetric future. Currently, few studies have focused on the factors influencing the choice to resort to in utero surgery and the experience of patients and co-parents before and after this intervention. No qualitative study on the subject has been published to date.

The Role of CSF in Chiari II Brain Malformation

Spina bifida, particularly its most severe form known as open spina bifida (myelomeningocele), is a significant congenital disorder that results in profound neurological impairments, including Chiari II malformation. This malformation is associated with the downward displacement of the cerebellum and brainstem into the spinal canal, often leading to hydrocephalus, a condition where cerebrospinal fluid (CSF) accumulates in the brain1. These conditions can result in a range of complications, including cognitive and motor disabilities, learning difficulties, and, in severe cases, early mortality1,2. While surgical interventions, including prenatal and postnatal surgeries, have been developed to manage the physical manifestations of spina bifida and Chiari II malformation, these procedures have not been fully successful in addressing the associated brain anomalies3. This study aims to explore the hypothesis that the composition of CSF plays a critical role in the development of these brain defects. Specifically, it is hypothesized that the rapid replenishment of CSF, due to its leakage from the open spine in spina bifida, results in a "less mature" fluid composition, which negatively affects neurogenesis and neuronal migration during critical periods of brain development.

Fetal Surgery Interview Study: Parental Perceptions of Fetal Surgery

Open maternal-fetal surgery is currently used on fetuses with myelomeningocele (MMC). Fetoscopic or minimal access fetal surgery is also being used to treat fetuses with congenital diaphragmatic hernia (CDH). Following accurate diagnosis of a congenital malformation such as MMC or CDH, prospective parents face a range of uncertainties regarding the future of their unborn child, and the options provided require major ethical considerations. In the situation under study, termination of pregnancy may be for some parents an alternative option to expectant prenatal management. Fetal therapy provides a tantalising third option for some, where procedures are undertaken to reduce the likelihood of a more complicated neonatal course, potentially improving long term outcome, but at risk of amniotic fluid leakage, infection and most importantly very preterm delivery, itself associated with significant neonatal mortality and morbidity and long-term consequences. Balancing these competing risks is challenging. For an intervention to be effective it also needs to be acceptable to women and their families. "Acceptability" can be defined as a multi-faceted construct that reflects the extent to which people delivering or receiving a healthcare intervention consider it to be appropriate, based on anticipated or experienced cognitive and emotional responses to the intervention. With this study it is the aim to assess how women (and their partners) perceive the acceptability of a fetal surgical intervention for MMC and CDH. Participants will be asked to share their thoughts, views, feelings and experiences with regards to the decision to participate in fetal surgery. Data are collected by the use of in-depth face-to-face interviews. In-depth interviews are used to understand the participant's perspectives and perceptions of a situation they are in. It explicitly includes participants interpretation and understanding of an event The interviews will be held in two or three moments in time (for parents opting for fetal surgery, there will be one additional interview, after the intervention while admitted in hospital): after counselling for options, but before eventual intervention; for intervention group shortly after the intervention, and 12 weeks after birth of the baby, or termination of pregnancy.

Role of Perforator Flaps in Back Defects Reconstruction

evaluation of perforator flaps versus perforator plus flaps

Laparotomy Versus Percutaneous Endoscopic Correction of Myelomeningocele

The purpose of this study is to evaluate the feasibility of a fetoscopic surgical technique for antenatal correction of fetal myelomeningocele. Two surgical approaches will be utilized. The percutaneous approach will be offered to participants with a posterior placenta. The laparotomy/uterine exteriorization approach will be offered to participants regardless of placental location.