Congenital nervous system disorder

This study tests the long-term safety and effectiveness of an experimental drug called BBP-418 (ribitol) in people with limb-girdle muscular dystrophy type 2I/R9, a rare genetic muscle-weakening disease. Participants who completed a previous study will take BBP-418 orally twice d…

This study tests a donor stem cell transplant for people with severe immune system problems, like SCID and Wiskott-Aldrich syndrome. The goal is to help the body make healthy blood cells and fight infections. Participants receive donated stem cells to rebuild their immune system.…

This study tests a liquid medicine called mirabegron in children aged 6 months to 3 years who have bladder problems due to nerve damage (neurogenic detrusor overactivity). The goal is to see if the medicine helps the bladder hold more urine safely, reducing leaks and pressure. Ch…

This study tests a new device that combines two heart therapies: one to strengthen heartbeats and another to stop dangerous rhythms. About 300 adults with heart failure and a weak heart pump will get the device. Researchers will check if it safely converts life-threatening heart …

This study follows about 200 people with Prader-Willi syndrome who are taking or starting VYKAT XR. Researchers will track side effects and how the drug affects their health over time. The goal is to gather more safety information, not to test if the drug cures the condition.

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 follows 200 children in Japan with growth hormone deficiency who are taking Sogroya® (somapacitan) as part of their normal care. Researchers will monitor side effects and growth over 1 to 3 years to see how safe and effective the drug is in real-world use. Participants…

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 phase 3 trial is testing the safety of pitolisant in 150 people with Prader-Willi syndrome who have already taken the drug in a previous study. Participants will receive pitolisant tablets and be monitored for side effects. The goal is to see if pitolisant is safe for long-t…

This study tests a stem cell transplant using a milder chemotherapy-like regimen to treat children and young adults (up to age 28) with various immune system disorders. The goal is to help the donor stem cells settle in the body with fewer side effects. The study involves 20 part…

This phase 2 trial tests setmelanotide (Imcivree), a daily injection, in 18 people aged 6 to 65 with Prader-Willi syndrome who have obesity. The study will check if the drug is safe and helps reduce body weight and hunger over 52 weeks.

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 tracks the safety and effectiveness of Ngenla, a growth hormone injection, in over 500 children aged 3 and older with growth hormone deficiency in Korea. Researchers will monitor side effects and growth changes over 6 years during routine medical care. The treatment he…

This study tests a new device that electrically stimulates the voice box muscles in people with bilateral vocal fold paralysis, a condition where both vocal cords are stuck closed. The main goal is to see if the device is safe and can improve breathing and voice quality. Eight ad…

This study tests a stem cell transplant method for people with inherited metabolic disorders and severe osteopetrosis. The goal is to get the donor cells to take hold while keeping side effects low. Participants receive chemotherapy drugs before the transplant to prepare their bo…

This study tests a new approach for people aged 5 to 45 with primary immune deficiencies and end-stage lung disease. Participants receive a double lung transplant followed by a stem cell transplant from the same donor. The goal is to see if this combined procedure is safe and can…

This study tests the long-term safety of a nasal spray called carbetocin for people with Prader-Willi syndrome who experience severe, constant hunger (hyperphagia). About 160 participants who completed a previous study will receive the spray three times daily. The goal is to see …

This study tests a new device called the SPIRION Laryngeal Pacemaker in 20 people with bilateral vocal cord paralysis, a condition that narrows the airway and makes breathing difficult. The device is implanted to help open the vocal cords during breathing. The main goals are to c…

This early-stage trial tests a gene therapy called ATA-100 for people with LGMDR9, a rare genetic muscle disease that causes progressive weakness. Six adults receive a single intravenous infusion of the therapy, which delivers a working copy of the FKRP gene. The main goal is to …

This trial gives a single child with a rare form of congenital muscular dystrophy access to their own banked stem cells. The cells are given through 14 IV infusions to see if they are safe and can help control the disease. Because it involves only one patient, the results will be…

This study tests a drug called BBP-418 (Ribitol) in 81 people aged 12 to 60 with limb girdle muscular dystrophy type 2I (LGMD2I), a genetic condition that causes progressive muscle weakness. Participants receive either the drug or a placebo for 36 months to see if it slows the di…

This study tests a new way to repair spina bifida before birth using a tiny camera and a patch made from donated human umbilical cord tissue. The patch is placed over the spinal cord to create a watertight seal, which may reduce problems after birth. The trial includes 50 pregnan…

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

This study is testing whether whole body MRI scans can help find cancers early in children and adults with Li-Fraumeni syndrome, a genetic condition that greatly raises cancer risk. About 150 participants will receive annual whole body MRI scans for four years to see if they keep…

This study tests a program called Tu'Washindi, designed by and for young women in Kenya. It combines support clubs and community sessions to help girls ages 15-24 reduce intimate partner violence and consistently use HIV prevention pills (PrEP). About 1,562 participants will be f…

This study tests whether group psychotherapy can help parents of children with Leber congenital amaurosis (LCA) feel better emotionally and handle stress. Forty parents will take part, with half joining therapy groups and the other half serving as a comparison. Researchers will m…

This pilot study tests a program called ALIGN, designed to help adults with spina bifida improve how they manage health tasks like coordinating care and handling medications. The program includes six virtual group sessions and one individual session with a clinician. Researchers …

This phase 3 study tests a device that gently stimulates the vagus nerve through the skin (tVNS) to see if it can safely reduce temper outbursts in people with Prader-Willi syndrome. About 102 participants aged 10 to 40 will use either continuous or intermittent stimulation. The …

This study tests a program called FACE-Rare, designed to support family caregivers of children with rare, life-limiting diseases. The program includes three sessions to help families prepare for future medical decisions and improve their quality of life. Researchers will compare …

This study tests whether a non-invasive device that delivers pulsed electromagnetic fields can improve bladder function in 40 children aged 4-12 with myelomeningocele (a form of spina bifida). The treatment aims to stimulate nerves controlling the bladder, potentially reducing in…

This phase 3 trial tests whether inhaled salbutamol, a drug used for asthma, can help newborns with transient tachypnoea (rapid breathing after birth). About 608 babies born between 32 and 42 weeks will receive either salbutamol or a placebo. The goal is to see if the drug reduce…

This study tests a training program that teaches children with physical disabilities how to use their manual wheelchairs better. The goal is to help them move around on their own instead of relying on others, which can improve their confidence and social life. Four children aged …

This Phase 3 trial tests a nasal spray called carbetocin to reduce the intense, constant hunger (hyperphagia) in people with Prader-Willi syndrome. The study involves 170 participants aged 5 to 30 and lasts 12 weeks. Caregivers will rate changes in hunger-related behaviors using …

This 24-month observational study follows 100 people aged 12–50 with Limb Girdle Muscular Dystrophy type R1 (LGMD R1). Researchers will test whether a motor function scale called NSAD and muscle fat measurements from MRI can reliably track disease progression. The goal is to vali…

This study follows nearly 600 people with Smith-Magenis syndrome (SMS), a rare genetic condition, to track how their health, behavior, and development change over time. Researchers will perform detailed medical exams, genetic tests, and surveys to better understand the syndrome's…

This study follows 400 patients for two years after they have endoscopic endonasal skull base surgery (surgery through the nose to reach the base of the skull). The goal is to measure their quality of life and nose function using standard questionnaires. It does not test a new tr…

This study follows 500 adults with vocal cord paralysis or atrophy who undergo laryngeal framework surgery. Researchers will track voice quality, swallowing ability, and complication rates for two years after surgery. The goal is to understand which surgical techniques work best …

This study aims to find better ways to measure how retinitis pigmentosa (a genetic eye disease that causes vision loss) progresses over time. Researchers will use advanced imaging and vision tests in 40 people with specific genetic forms of the disease. The goal is to identify re…

This 10-year observational study will follow 500 children with growth hormone deficiency who are receiving the once-weekly injection somapacitan as part of their routine care. Researchers will track side effects, medication errors, and new cases of cancer or type 2 diabetes. The …

This study examines whether removing the breathing tube (extubation) in the operating room versus later in the intensive care unit improves outcomes for newborns undergoing surgery for myelomeningocele, a type of spina bifida. Researchers will review records of 60 babies to compa…

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 aims to discover new genetic mutations that cause mitochondrial disorders by analyzing tissue samples from up to 6,900 participants. It includes people with suspected or known mitochondrial diseases, such as MELAS or Leigh's Disease, who lack a genetic diagnosis. The r…

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 is creating a new tool for children with spina bifida and their doctors to work together on setting personal goals for managing bladder and bowel leakage. The goal is to improve the child's quality of life by focusing on what matters most to them, rather than just medi…

This study looks at children and teenagers with growth hormone deficiency or who were born small for their age. It tracks how closely they follow their prescribed Norditropin® treatment and whether that affects their final height. The study is observational, meaning no new treatm…

This study looks at whether a power wheelchair that can lift a child from sitting to standing is practical for kids with conditions like cerebral palsy, spinal cord injuries, or genetic diseases. Only 4 children aged 5-17 are taking part. The goal is to see if the chair helps the…