Central nervous system malformation

This study tests a custom-made drug for one child with a rare, severe brain disease called CONDBA, caused by a specific gene mutation. The drug aims to slow or stop brain damage by targeting the faulty gene. Researchers will track changes in movement, coordination, and quality of…

This study tests two ways to surgically repair spina bifida in the womb using a tiny camera. The goal is to close the spinal defect and reverse brain changes caused by the condition. About 110 pregnant women carrying babies with spina bifida will take part. The two methods are co…

This study tests a minimally invasive fetoscopic surgery to repair spina bifida in unborn babies. The goal is to close the spinal defect and reverse brain herniation while reducing risks like uterine rupture and preterm birth that come with open fetal surgery. Thirty pregnant wom…

This early-phase trial tests an experimental drug called radiprodil in 30 people with tuberous sclerosis complex or focal cortical dysplasia type II whose seizures have not responded to at least two other medications. The study is open-label, meaning everyone gets the drug, and w…

This study tests a bone marrow transplant method that avoids harsh chemotherapy and radiation for people with dyskeratosis congenita, a genetic disorder causing bone marrow failure. The goal is to fix the blood system without worsening lung or liver disease or raising cancer risk…

This study tests two minimally invasive fetal surgery techniques for repairing neural tube defects (spina bifida) in the womb. One method uses a Durepair patch to reinforce the repair, while the other does not. Researchers aim to see if the patch leads to a thicker repair and few…

This study aims to uncover the genetic roots of aortic aneurysms and valve disease by analyzing tissue and blood samples from 3,000 participants. Researchers will look for new disease-causing genes and factors that affect disease severity. The goal is to build a biorepository to …

This study uses MRI scans to understand how different neck positions affect the flow of cerebrospinal fluid (the fluid around the brain and spine) in people with Chiari malformations and similar neck abnormalities. Researchers will compare fluid flow in healthy volunteers and pat…

This study aims to find the genetic cause of PHACE syndrome, a rare condition. Researchers will analyze DNA from 50 people diagnosed with PHACE. Participants must also have an eye exam. The goal is to identify genes that may be responsible for the syndrome, which could lead to be…

This study tests two types of hyperextension braces (Jewett and Spinomed) on 30 healthy adults aged 18-35. Researchers measure how much each brace limits spinal movement and affects posture during daily activities like standing and squatting. The goal is to provide clear data to …