Congenital nervous system disorder

This study tests a gene therapy called OPGx-RDH12 for people with Leber Congenital Amaurosis (LCA) caused by mutations in the RDH12 gene, a rare condition that leads to severe vision loss from a young age. The treatment is given as a single injection under the retina in the worse…

This early study tests whether washing the bladder with an antibiotic (gentamicin) followed by a probiotic (Lactobacillus) can help restore healthy bacteria and prevent urinary tract infections in people with neurogenic bladder due to spinal cord injury, multiple sclerosis, or sp…

This study tests a nerve-monitoring device that alerts surgeons when a child's vocal cord nerve is at risk during throat, chest, or heart surgery. About 90 children under 18 will be randomly assigned to standard care or standard care plus the monitor. After surgery, doctors will …

This study tests a medicine called surlorian in 28 adults with a rare genetic muscle disease (RYR1-related myopathy) that causes weakness. The goal is to see if surlorian improves muscle strength and function, like standing from a chair or walking. Participants will be randomly a…

This early-stage trial tests a lab-grown penile tissue made from a man's own cells to repair severe, irreversible damage to the penis. Ten men aged 18-60 who have failed standard treatments will receive the implant. The main goal is to check safety, not effectiveness.

This study tests a custom-made drug called an antisense oligonucleotide (ASO) designed for one person with Schuurs-Hoeijmakers syndrome, a rare genetic condition. The drug aims to correct a specific genetic mutation to improve communication and motor skills. Only one participant …

This study tests a new medicine called GenSci134, a long-acting growth hormone, in 128 children with growth hormone deficiency (GHD). The goal is to find the best dose and see if it is safe and helps children grow taller. In the first part, children get one shot of GenSci134; in …

This early-stage trial tests a new gene therapy called FRF-001 for FOXG1 syndrome, a rare genetic disorder that affects brain development. The therapy is given as a single injection into the brain's fluid spaces. The study will include 12 children and adults and will check for sa…

This study tests an oral medicine called GS3-007a for children with growth hormone deficiency. In the first part, kids receive different doses or a placebo for 14 days to check safety. In the second part, they take the chosen dose or a standard injection for 52 weeks to see how w…

This study tests whether wearable augmented reality (AR) glasses can diagnose vertigo as accurately as standard eye-movement exams. About 200 adults with vertigo will try both methods during one visit. If successful, AR glasses could make vertigo assessment faster and more access…

This study tests whether sending text messages or voice call reminders with helpful behavior change tips can improve how many babies get their full set of vaccines on time. About 7,800 caregivers of newborns in Bangladesh will be split into three groups: one gets no reminders, on…

This study tests whether electroacupuncture (mild electrical pulses through thin needles) can help patients whose stomachs stop working properly after surgery for digestive tract tumors. Seventy-six adults who had such surgery and developed gastroparesis (stomach paralysis) will …

This study tests whether inhaled salbutamol, a drug used for asthma, can reduce breathing distress in newborns with transient tachypnea of the newborn (TTN). TTN is a common lung condition after birth where fluid stays in the lungs, causing fast breathing. The trial will enroll j…

This study tests an experimental drug called BMB-101 in 16 adults with Prader-Willi syndrome who struggle with severe, constant hunger. The trial is double-blind and placebo-controlled, meaning some participants get the drug and some get a dummy treatment, and neither they nor th…

This study looks at people aged 65 and older who have signs of brain blood vessel disease on a past scan but no history of stroke, dementia, or other major brain conditions. Researchers will collect information on daily function, thinking skills, speech, and any new vascular even…

This pilot study will test whether using ultrasound during common office procedures for voice and swallowing problems is helpful and practical. Researchers will enroll 200 adults with conditions like chronic cough, vocal cord issues, or swallowing difficulties. They will measure …

This study will follow 300 Belgian children with growth hormone deficiency for three years to see how their bodies respond to daily or weekly growth hormone shots. Researchers will measure growth, weight, blood sugar, fats, and other health markers. The goal is to understand whic…

This study looks at the teeth, mouth, and face health of 25 people with Mowat-Wilson syndrome, a rare genetic condition. Researchers will check for cavities, gum disease, and facial features, and ask about quality of life. No treatment is given—the goal is to gather information t…

This study looks at children with spinal dysraphism, a birth defect where the spine doesn't close properly. The goal is to better understand bladder and bowel problems in these children, especially those with less obvious forms. By studying 210 children treated at one hospital ov…

This study aims to find biological markers in blood and urine that could explain congenital central hypoventilation syndrome (CCHS), a rare disorder where the brain fails to control breathing during sleep. Researchers will collect samples from 40 adults with CCHS and healthy volu…