Congenital nervous system disorder

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 trial tests an experimental drug called REC-994 in adults with symptomatic cerebral cavernous malformation (CCM), a condition where clusters of abnormal blood vessels in the brain can cause bleeding, seizures, and other symptoms. Participants receive either a low or high dos…

This study tests an oral medication called LUM-201 in children with growth hormone deficiency who have not yet received treatment. The goal is to see if taking a pill daily can improve growth as effectively as standard daily injections. The trial also looks for a way to identify …

This study tested a new growth hormone medicine, somapacitan, given once a week, against the standard daily Norditropin in 200 children with growth hormone deficiency. After one year, children receiving the weekly shot grew just as much in height as those on daily shots, with sim…

This study tested an oral drug called LUM-201 in 15 children with growth hormone deficiency who had already received daily injections for a year. The goal was to see if LUM-201 could maintain or improve growth over 12 months. The drug was given once daily by mouth, and researcher…

This phase 2 trial tested sodium valproate, a drug used for seizures, in 41 children with Rubinstein-Taybi syndrome (RTS), a rare genetic condition causing intellectual disability. Participants aged 6 to 21 received either the drug or a placebo for one year. Researchers measured …

This study tested a new surgical procedure for people with Chiari malformation and type II skull base depression, a condition where brain tissue extends into the spinal canal. The surgery combined decompression, joint release, and fusion to relieve pressure and stabilize the spin…

This study looked at whether a high-fat diet changes how children with mitochondrial disease burn energy. 36 children aged 5 to 21 were randomly assigned to eat either a normal or high-fat diet for a month, then switched. Researchers measured their resting energy use and body com…

This study tested a drug called alemtuzumab (Campath) as a first treatment for children with hemophagocytic lymphohistiocytosis (HLH), a rare and life-threatening immune disorder. The goal was to see if it could help children survive until they could receive a stem cell transplan…

This study tested a mix of treatments—biofeedback, osteopathic care, behavioral training, diet changes, and electrical stimulation—to help children with spina bifida control their bladder. 66 kids aged 10-17 took part, receiving either the combo therapy or standard care for 10 we…

This study tested a new drug called OMT-28 in 28 people with primary mitochondrial disease, a condition that affects how cells produce energy. Participants took the drug once daily for 6 months, and researchers measured safety, blood markers of inflammation, and symptoms like fat…

This study tested a surgery that reconnects nerves in the throat to help people with both vocal cords paralyzed. The goal was to improve breathing and voice without causing swallowing problems. Four adults who had not gotten good results from earlier treatments took part. Results…

This study tested a new once-weekly growth hormone injection (somapacitan) against the standard daily growth hormone shot in 76 children with growth hormone deficiency who had never been treated before. The main goal was to see how well the weekly shot worked for height growth an…

This completed Phase 3 study tested somatropin, a synthetic growth hormone, in 33 Japanese children and adults with Prader-Willi syndrome. The goal was to see if it safely improves body composition by increasing lean body mass and reducing fat. Participants were divided into thre…

This study tested a new medicine, somapacitan, given once a week against the standard daily growth hormone shot (Norditropin®) in 110 Chinese children with growth hormone deficiency. The goal was to see if the weekly shot works as well as the daily one for helping children grow. …

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 three different materials (blood clot, platelet-rich fibrin, and concentrated growth factor) combined with two types of rinses to help regrow root tissue in 30 immature permanent teeth with dead nerves. Participants aged 9 to 25 were followed for 12 months using…

This study looked at whether growth hormone therapy can improve muscle strength, power, and body composition in short prepubertal boys, both those with growth hormone deficiency and those with idiopathic short stature. Thirty short boys received growth hormone injections for 12 m…

This Phase 3 trial tested a daily injection called elamipretide in 102 adults with primary mitochondrial myopathy, a genetic condition that causes muscle weakness and fatigue. Participants received either the drug or a placebo for 48 weeks. The main goal was to see if the drug co…

This study tested a drug called tideglusib against a placebo in 56 children aged 6 to 16 with congenital myotonic dystrophy, a rare genetic muscle disorder. The goal was to see if tideglusib could reduce symptoms like muscle weakness and breathing problems. The trial was complete…

This completed trial tested a personalized program of physical activity, nutrition guidance, and education for 128 adults with Prader-Willi syndrome. Participants followed the program during a 5-week hospital stay, with the goal of stabilizing or reducing their body mass index (B…

This phase 2 study tested the safety and effectiveness of tideglusib, an experimental drug, in 16 adolescents and adults with congenital or juvenile-onset myotonic dystrophy type 1. Participants received either 400 mg or 1000 mg of tideglusib daily. The study measured side effect…

This study tested a surgery performed before birth to repair a spinal defect called myelomeningocele, a severe form of spina bifida. The goal was to see if fixing the spine in the womb could reduce brain problems and nerve damage after birth. 38 pregnant women carrying fetuses wi…

This study tested a new, less invasive surgical technique to repair spina bifida before birth. Seven pregnant women carrying babies with the condition underwent a fetoscopic procedure using small incisions and a camera. The goal was to see if the surgery was feasible and safe for…

This study tested a new type of leg brace designed to help children with cerebral palsy and other movement disorders walk more easily. The brace was custom-made for each child and could be adjusted to provide different kinds of support. Researchers measured how well children walk…

This study tested two types of eye exercises—gaze stabilization and optokinetic training—in 32 adults aged 35-55 with chronic dizziness from inner ear problems. The goal was to see which better improves dizziness, balance, and confidence in daily activities. Results help guide th…

This study tested whether eye and neck exercises can reduce dizziness and uncontrolled eye movements in young adults with benign paroxysmal positional vertigo (BPPV). Fifty-six participants did either eye exercises alone or combined eye and neck exercises for six weeks. The goal …

This phase 2 study tested whether pitolisant, a drug that promotes wakefulness, can safely reduce excessive daytime sleepiness in people with Prader-Willi syndrome. The trial enrolled 65 participants aged 6 to 65 and compared pitolisant to a placebo over 11 weeks, followed by an …

This early study tested a tiny dexamethasone insert placed in the tear duct of 15 children after retinal surgery or laser treatment. The goal was to see if it could safely reduce pain and eye inflammation. Researchers measured pain using a standard scale and tracked any side effe…

This study tested an FDA-approved eyedrop (oxymetazoline 0.1%) in 36 adults with eyelid droop caused by facial nerve miswiring after paralysis. The goal was to see if the drop could temporarily raise the eyelid, improve vision, and reduce abnormal muscle spasms. Researchers measu…

This study tested a gel called ZYN002, applied to the skin, in 20 children and teens (ages 4-17) with 22q11.2 deletion syndrome. The main goal was to see if the gel is safe and tolerable over 38 weeks. Researchers also looked at whether it could improve behavior and other symptom…

This completed study looked at 90 people with lower back pain from conditions like herniated discs or spinal stenosis. Researchers compared two different target areas for injecting numbing medicine during a lumbar spine block to see which provides better pain relief and blood flo…

This study tested whether oxytocin nasal spray, sometimes called the 'love hormone,' can improve behavior and eating problems in adults with Prader-Willi syndrome. Fifty participants received either oxytocin or a placebo daily or every three days for 28 days. Researchers measured…

This study tested whether a high-intensity exercise program, run by physical therapy students, can help people with neurologic disabilities move better in everyday life. Fifteen participants with conditions like cerebral palsy, stroke, or spinal cord injury completed the program.…

This study tested a 12-week exercise program set to music for adults with physical disabilities like spinal cord injury, stroke, or Parkinson's disease. Participants exercised three times a week via video calls, doing movements adapted to their ability. The goal was to see if the…

This study tested prefabricated carbon fiber ankle-foot orthoses (AFOs) in 65 children and teenagers with conditions like cerebral palsy, spina bifida, or spinal cord injuries that affect walking. Researchers measured stride length, walking speed, and user satisfaction by compari…

This study followed 78 people with GNE myopathy, a rare genetic disease that causes progressive muscle weakness starting in young adulthood. Researchers collected medical history, blood samples, and muscle function tests over up to two years to understand how the disease progress…

This completed study by the National Human Genome Research Institute looked at 207 people with Moebius syndrome or similar congenital facial weakness disorders, along with their family members. Researchers aimed to better understand the genetic and clinical features of these cond…

This study examined spinal fluid from 32 children with tethered spinal cord to see if inflammation plays a role in the condition. Researchers collected fluid samples during surgery and looked for markers of inflammation. The goal was to better understand how the spinal cord gets …

This study looked at 173 infants with myelomeningocele, a severe form of spina bifida, to see if the timing of their surgery (before or after birth) affects their risk for sleep-disordered breathing. Researchers used sleep studies to measure breathing problems and later checked t…

This study looks at whether a 21-minute daily meditation practice called Shambhavi Mahamudra Kriya can improve brain health. Researchers will measure brain activity, brain structure, and thinking skills in 77 adults aged 20-65 over 6 months. The goal is to see if this simple, sea…

This completed study looked at how appetite-regulating hormones change in infants with Prader-Willi syndrome during the first four years of life. Researchers collected blood samples from 215 infants to understand why they switch from poor feeding to severe overeating and obesity.…

This study looked at 36 adults with spina bifida to understand why they often have bowel issues. Researchers took small tissue samples from the colon during a routine scope and measured how the rectum works. The goal was to see if nerve damage affects the gut's lining and nerves,…

This study followed 72 children who were diagnosed before birth with a missing or abnormal corpus callosum, the bundle of nerves connecting the brain's two halves. Researchers tested their thinking, movement, and behavior at age 3 to understand how they develop. The goal was to g…

This study looked at 69 women who had a pregnancy affected by spina bifida to understand how folic acid might prevent the condition. Researchers measured changes in DNA methylation and folate levels after a short course of folic acid supplements. The goal is to uncover the biolog…

This study followed 52 people with limb-girdle muscular dystrophy 2I (LGMD2I) for up to two years to learn more about how the disease changes over time. Researchers measured walking ability, muscle strength, heart function, and daily activities. The goal was to better understand …

This study looked at 21 pregnant women and their babies to understand how surgery before birth changes the immune system. The goal was to find out if immune system activation might cause early labor. Researchers collected blood samples and studied the placenta to track immune cha…

This study tested whether people with hypopituitarism (a condition where the pituitary gland doesn't work properly) have lower oxytocin levels compared to healthy individuals. Researchers gave participants a drug called exenatide (a GLP1 receptor agonist) to see if it could stimu…

This study followed 76 women with congenital toxoplasmosis (a parasitic infection present from birth) to see if pregnancy increases the risk of eye inflammation (retinochoroiditis). Researchers checked eye exams done during pregnancy and after childbirth, comparing them to non-pr…

This study looked at 500 children who had surgery for a rare brain tumor called craniopharyngioma. Researchers used MRI scans to grade how much the tumor damaged a key brain area (the hypothalamus). They found that more damage was linked to higher rates of growth hormone deficien…

This study looked at 800 children with congenital hydrocephalus (fluid buildup in the brain) to see which surgery works best: a shunt (a tube that drains fluid) or an endoscopic third ventriculostomy (ETV, a procedure that creates a new drainage pathway). Researchers used MRI sca…

This study looked at how well children with myelomeningocele (a type of spina bifida) can perform two tasks at the same time, like moving blocks while tapping a rhythm, compared to children without the condition. Researchers tested 60 children aged 7-18 using simple hand and thin…

This study looked at whether showing health warning messages in a mobile app where people buy alcohol affects their purchasing. Over 11,700 adults in Sweden took part. One group saw rotating health warnings, while the other saw standard messages. The researchers tracked purchases…

This completed study looked at whether a blood test for a substance called ADMA can measure blood vessel health in children with growth hormone deficiency or those born small for their age. Researchers compared ADMA levels to ultrasound measurements of artery function in 23 child…

This study measured how children with and without autism look at faces, body movements, and objects using eye-tracking technology. Researchers wanted to see if visual patterns could help understand social differences in autism. 150 children took part, including those with autism …

This completed study involved 40 families of children with growth hormone deficiency. Researchers used data from connected injector devices and family surveys to develop a personalized growth hormone treatment profile (PGTP) report. The goal is to help doctors create more tailore…

This completed study tracked 87 patients who received Luxturna gene therapy for a rare inherited eye condition that causes blindness. Researchers monitored side effects and pregnancy outcomes for up to 5 years after treatment. The goal was to gather real-world safety data, not to…

This study looked at two community-based wellness programs for adults with disabilities like spina bifida, cerebral palsy, spinal cord injury, and traumatic brain injury. Researchers measured changes in health, mood, quality of life, and healthcare costs over up to 24 months. The…

This study measured the biological (epigenetic) age of 10 children with growth hormone deficiency before and after 6 months of hormone therapy. Researchers wanted to see if treatment changes how old their cells appear. The goal is to better understand growth hormone's effects on …

This completed study followed 477 women in Denmark who had a planned cesarean delivery. Researchers used text-message surveys to track pain levels, medication use, and how pain affected daily life over several months. The goal was to better understand how common persistent pain i…