Central nervous system malformation

This study tests a new, minimally invasive surgical technique to repair open neural tube defects (spina bifida) in unborn babies. Instead of opening the uterus, surgeons use a tiny camera and tools inserted through small incisions. The goal is to close the spinal defect effective…

This study looked at 250 people with Chiari malformation type I and syringomyelia to compare two surgical approaches: one that opens the covering of the brain and spinal cord, and another that also removes or shrinks the tonsils at the base of the brain. The goal was to see which…

This study looked at the safety of vatiquinone in 101 people with inherited mitochondrial disease who had already taken the drug in a previous study or treatment plan. The goal was to track any side effects until the drug became commercially available or the program ended. Partic…

This study tested two ways to stimulate sacral nerves in 48 children aged 2-17 with severe constipation and fecal incontinence that didn't improve with standard care. One group got an implanted nerve stimulator, the other a non-invasive patch. The goal was to see if either approa…

This study tested whether a nerve block called erector spinae plane block (ESPB) can reduce pain and the amount of anesthesia needed during and after tethered cord surgery in children. The trial involved 73 children aged 18 and under. The goal was to see if the block lowers pain …

This study followed 180 adults with syringomyelia, a condition where a cyst forms in the spinal cord, for up to 5 years. Researchers tracked symptoms, muscle strength, and MRI scans to learn how the disease progresses and how surgery affects outcomes. The goal was to gather knowl…

This study looked at the genetics of Chiari I malformation, a condition where part of the brain pushes into the spinal canal. Researchers analyzed DNA and family histories from 152 participants to find genes that may cause the malformation. The goal was to better understand why i…

This completed study looked for genetic causes of Chiari type I malformation, a condition where part of the brain pushes into the spinal canal. Researchers took blood samples from 40 people with the condition and their relatives to analyze their DNA. The goal was to find specific…

This completed study created a French national registry for people with rare overgrowth syndromes caused by PIK3CA gene mutations. Researchers collected medical and genetic information from 28 patients to better understand these conditions and estimate how many people are affecte…

This study tested whether a powerful DNA test called high-throughput exome sequencing can find genetic causes of multiple birth defects in fetuses when standard exams fail. Researchers studied 100 fetuses with at least two malformations and no prior diagnosis. They compared the n…

This study tested whether a fast type of genetic test called rapid genome sequencing can find the cause of birth defects seen on ultrasound more quickly than current methods. Researchers included 184 pregnancies with certain ultrasound findings. The goal was to see if results cou…

This study tested how the experimental drug radiprodil interacts with five common medications (warfarin, midazolam, digoxin, rosuvastatin, and omeprazole) in 18 healthy adults. Participants took radiprodil alone and then with each of these drugs to measure changes in drug levels …

This study looked at 126 children and young adults (up to age 25) with serious, non-progressive neurological diseases like cerebral palsy or brain injury. Researchers wanted to understand the best time to introduce a pediatric palliative care team. They reviewed medical records f…