Congenital nervous system disorder

This study tests an oral medication called LUM-201 for children with growth hormone deficiency who have never been treated before. The goal is to see if taking a pill every day for 12 months can improve growth rate compared to a placebo. The study involves 150 prepubertal childre…

This phase 3 trial tests an experimental drug called sepofarsen in 32 people with Leber congenital amaurosis (LCA), a rare genetic condition that causes severe vision loss from birth. The drug is injected into one eye, while the other eye gets a placebo, to see if it safely impro…

This study tests a daily pill called vibegron to see if it safely improves bladder control in children aged 2 to 18 with neurogenic detrusor overactivity (NDO), a condition where the bladder contracts too often due to nerve damage. Participants must already use a catheter to empt…

This study tests a special sealant called Immiseal that is applied during brain or spine surgery to prevent leaks of cerebrospinal fluid. It is used along with standard repair methods to create a watertight seal. The study follows adults aged 18 to 75 who need dural repair after …

This study tests a new growth hormone injection (GB06) in 192 children aged 3 to 11 with growth hormone deficiency, a condition that causes slow growth. The treatment is given daily for 52 weeks to see if it helps children grow taller at a similar rate to an existing approved hor…

This Phase 3 study tests whether the drug mavorixafor can reduce serious infections and increase neutrophil levels in people with chronic neutropenia—a condition where the body doesn't make enough infection-fighting white blood cells. About 176 participants will receive either ma…

This early-phase trial is testing a new drug, FOG-001, in about 595 people with advanced or metastatic solid tumors, including colorectal, prostate, and liver cancers. The drug is given alone or with other cancer treatments to see if it is safe and shrinks tumors. The study is cu…

This early-stage trial tests an experimental drug called CSTI-500 in 12 people aged 13 to 50 with Prader-Willi syndrome, a genetic condition that causes constant hunger and behavioral issues. The study aims to see if the drug is safe and can reduce excessive eating behaviors. Par…

This small pilot study tests whether cutting a fibrous strand at the end of the spinal cord (filum terminale) can relieve symptoms of occult tethered cord syndrome better than medical management alone. Twenty people aged 2 to 80 who have not improved with standard care will be ra…

This study tests a stem cell transplant for people with common variable immunodeficiency (CVID) and other immune disorders. The goal is to replace the faulty immune system with a healthy donor's stem cells. Participants are aged 5 to 40 and will receive a reduced-intensity transp…

This study tests whether a purine-rich diet can lower disease markers in people with AICA-ribosiduria, a rare genetic condition causing severe disability and epilepsy. Ten participants will follow a diet with 160 mg of purines per day. Early results in one patient showed promise,…

This early study tests a new gene therapy called GVB-2001 for people with primary open-angle glaucoma. The treatment is given as an injection into the eye to help lower high pressure inside the eye. About 6 adults aged 18 to 75 with glaucoma for at least a year will take part. Th…

This study looks at a surgery called selective laryngeal reinnervation for people whose vocal cords are paralyzed on both sides, making it hard to breathe. Researchers will track 15 adults aged 18 to 70 to see if the surgery improves breathing symptoms and lung function. The goal…

This early-stage trial tests a new biologic drug called ARGX-119 in 16 adults with a rare genetic muscle weakness condition called DOK7-congenital myasthenic syndrome (CMS). The study aims to see if the drug is safe and how the body processes it. Participants will receive either …

This study tests whether giving oxybutynin directly into the bladder (instead of by mouth) can increase bladder capacity and reduce the need for more invasive treatments like Botox injections or surgery in children with spina bifida. About 60 children whose current oral medicatio…

This study tests whether probiotics and prebiotics can safely help control appetite and weight gain in 60 children with Prader-Willi syndrome, a rare genetic condition that causes severe obesity. Researchers will measure changes in body mass index, body fat, and gut bacteria over…

This study tests a new drug called ION440 in 48 people with MECP2 duplication syndrome, a rare genetic condition that causes intellectual disability and seizures. The drug is given via a spinal injection to see if it is safe and how the body processes it. Some participants will r…

This early-stage trial tests a gene therapy called Urbagen in 12 children aged 2-12 with CTNNB1 neurodevelopmental syndrome, a rare genetic condition causing motor and cognitive delays. The therapy is given as a single infusion into the brain fluid, along with immunosuppressant d…

This study looks at thinking and mental health issues in people with Velocardiofacial, Williams, and Fragile X syndromes. Researchers will test how well medications like methylphenidate, fluoxetine, and risperidone improve these symptoms. The goal is to better understand and trea…

This study tests a 16-week inclusive exercise program called PACE for adults with intellectual disability. Participants will attend fitness classes, meet with coaches, and use a web dashboard to set goals. The trial includes 376 people and will measure daily steps and moderate-to…

This study tests a single dose of a gene therapy called AB-1003 in 10 adults with a rare genetic muscle disease (LGMD2I/R9). The goal is to see if it is safe and can help improve muscle function. Participants must be able to walk or run 10 meters in under 30 seconds.

This study tests a gene therapy called OPGx-001 for people with vision loss caused by LCA5 gene mutations. The treatment is a one-time injection under the retina. The goal is to see if it is safe and can slow or stop vision loss. The study involves 22 participants aged 4 and olde…

This phase 3 trial tests whether a daily injection of setmelanotide can help people aged 4 and older with hypothalamic obesity lose weight and feel less hungry. Participants will receive either the drug or a placebo for 26 weeks. The study aims to see if the treatment leads to me…

This study is for pregnant women carrying a baby with spina bifida, a birth defect that can cause paralysis and other problems. Researchers are adding living stem cells from the placenta to the standard fetal surgery, hoping to protect the spinal cord and improve the child's abil…

This study tracks 50 children and adults with non-malignant disorders like immune deficiencies and anemias who receive a stem cell transplant after a reduced-intensity chemotherapy regimen. The goal is to see if this approach improves survival and reduces severe graft-versus-host…

This study tests a weekly injection called RM-718 in healthy people with obesity and in patients with obesity caused by problems in the MC4R pathway, including hypothalamic obesity and Prader-Willi syndrome. The main goal is to check the drug's safety and how the body processes i…

This study is testing modified surgical instruments used during fetoscopic repair of neural tube defects (spina bifida) in unborn babies. Researchers want to see if these tools are safe and work as intended. The study will enroll 100 pregnant women who choose to have this fetal s…

This study is testing a less intense chemotherapy and radiation regimen before a stem cell transplant for children and young adults up to age 55 with non-cancerous blood disorders like immune deficiencies, anemias, and metabolic diseases. The goal is to see if this gentler prepar…

This Phase 3 trial tests whether fampridine can improve movement and vision in people with spinocerebellar ataxia SCA27B, a rare genetic condition that affects balance and coordination. About 70 adults will take either fampridine or a placebo twice daily for 12 weeks. The main go…

This study tests a wearable robotic exoskeleton designed to improve walking in children aged 3 to 17 with conditions like cerebral palsy, spina bifida, muscular dystrophy, or incomplete spinal cord injury. The device fits on the legs and can assist or resist movement during walki…

This study tests tirzepatide, a weight loss medication, in 36 young adults aged 18-26 with obesity from Prader-Willi syndrome, hypothalamic obesity, or general causes. Participants take the drug for 48 weeks to see how much weight they lose and how their health changes. The goal …

This study tests a new surgical approach for newborns with spina bifida, where a patch made from the baby's own umbilical cord is used to cover the spinal defect shortly after birth. The goal is to see if this method reduces complications like wound breakdown and fluid leakage co…

This study is tracking 2,600 Chinese children with growth disorders who are receiving a long-acting growth hormone injection. The goal is to see how well it works and how safe it is over the long term in real-world settings. Researchers will measure changes in height and look for…

This study is testing a new blood test that looks for fetal cells in the mother's blood to detect genetic conditions like Down syndrome. The test will be compared to standard diagnostic methods such as amniocentesis or newborn testing. The study involves 1,000 pregnant individual…

This study looks at whether a simple ultrasound at the bedside can reliably detect vocal fold motion impairment in children who are on noninvasive breathing support in the ICU. About 50 children will get two ultrasounds of their vocal folds—one while on the breathing machine and …

This study is testing a new blood test that can diagnose single-gene disorders in unborn babies using a sample from the mother. The test looks at fetal DNA found in the mother's blood, which is safer than traditional invasive methods that carry a small risk of miscarriage. Resear…

This study tests whether adding folic acid to iodized salt can raise folate levels in women of childbearing age in Zambia, a country without mandatory folic acid fortification. Two hundred fifty non-pregnant, non-lactating women aged 18–45 will use the fortified salt instead of r…

This study tests a new manual standing wheelchair designed for children with spina bifida. Thirty kids aged 8 to 17 will try the chair in lab and simulated home, school, and community settings. The goal is to see if it helps them move and stand better than their current wheelchai…

This study tests if pairing a gentle, non-invasive brain stimulation (tDCS) with personalized physical therapy can help people with cerebellar damage (from stroke, tumor, or degeneration) improve movement and daily function. About 30 adults aged 18-75 will participate. The goal i…

This study tests whether L-dopa, a drug used for Parkinson's, can improve movement and communication in children with a rare genetic disorder called CTNNB1 syndrome. The condition causes developmental delays, muscle stiffness, and trouble walking. Seven children aged 1 to 15 will…

This pilot study tests whether a mild electrical current applied to the spinal cord (transcutaneous stimulation) can improve leg muscle strength, walking, and bladder function in 20 children with spina bifida (myelomeningocele). The children, aged 4-17, will receive stimulation w…

This study tests a group program to help teens (ages 13-17.5) with Prader-Willi Syndrome and their families learn practical ways to handle irritability, meltdowns, and anxiety. Ten participants will attend weekly 90-minute sessions. The goal is to see if the program improves emot…

This study tests whether bright light therapy can help reduce excessive daytime sleepiness in people with Prader-Willi syndrome. About 50 participants will receive either bright light or a dim placebo light. The goal is to see if the therapy improves alertness, mood, and behavior…

This Phase 3 trial tests whether pitolisant can reduce excessive daytime sleepiness in people aged 6 and older with Prader-Willi syndrome. About 134 participants will receive either pitolisant or a placebo, and researchers will also look at effects on behavior and appetite. The s…

This study explores whether weekly music and movement sessions are practical and enjoyable for children aged 6 to 18 with myotonic dystrophy type 1 (DM1). Over 10 weeks, participants attend 45-minute music classes, undergo physical and cognitive tests, and provide biological samp…

This study tests a treatment called transcutaneous tibial nerve stimulation (TTNS) for children aged 8-18 with spina bifida who still leak urine despite regular catheter use. TTNS uses mild electrical pulses at the ankle to stimulate a nerve that helps control the bladder. Partic…

This study tests whether a custom 3D-printed mouth splint can help burn patients who have developed microstomia (a tight, small mouth opening). Ten participants will use the splint and be measured for changes in mouth size and function using a special survey. The goal is to ease …

This study tests a 10-week online group program for adults with spina bifida to improve self-esteem, quality of life, and reduce anxiety and depression. Participants join weekly video sessions with 6-7 others, plus two follow-ups. The goal is to strengthen social skills and emoti…

This study tests whether a noninvasive technique called transcranial magnetic stimulation (TMS) can change brain activity related to hunger and fullness in people with Prader-Willi syndrome. Researchers will stimulate a part of the brain called the cerebellum and measure changes …

This study tests whether a gentle brain stimulation technique called tACS, used at home for 5 days a week over 4 weeks, can improve memory and thinking in 40 young people aged 14-25 with 22q11.2 deletion syndrome. The stimulation is personalized based on each participant's MRI an…

This study tests whether ankle braces made with 3D scanning and printing work as well as those made the old-fashioned way with plaster casts. About 50 people aged 8 and older with leg weakness from conditions like cerebral palsy, stroke, or spinal cord injury will try both types …

This pilot study tests whether a device called IVS3 is tolerable and easy to use for arm recovery in people who had a stroke at least 6 months ago. The device uses mirrored video to create the illusion that the affected arm is moving. Researchers will track how many sessions part…

This study is testing a new leg exoskeleton designed by the NIH to help children and young adults with muscle weakness from conditions like cerebral palsy or spinal cord injury. Researchers want to see how well the device works in different real-world settings, like walking on a …

This study aims to uncover the genetic causes of pituitary and hypothalamic tumors in children. Researchers will collect blood and tumor samples from up to 2,000 participants to analyze DNA and look for inherited patterns. The study also trains doctors and tests new MRI technique…

This study follows children and adults worldwide who have a rare genetic muscle disease called TNNT1 myopathy. Researchers aim to document how the disease progresses over time, including survival and motor milestones. The goal is to identify reliable measures that can be used in …

This study follows 200 children with growth hormone deficiency for three years. Researchers will measure body composition, including muscle and fat, in kids taking either daily or long-acting growth hormone. The goal is to understand why some children gain weight on long-acting f…

This study looks at how to reduce the long and frustrating journey to a diagnosis for people with developmental abnormalities. Researchers will review past cases, collect new blood or skin samples, and use advanced genetic testing. The goal is to understand why some people remain…

This study is for people with a rare genetic muscle condition called congenital myasthenic syndrome (CMS). It does not test any new drug or treatment. Instead, researchers will collect information from up to 100 participants over 4 visits to better understand how the disease affe…

This study surveys 300 young people with spina bifida to compare how different bladder management methods—like catheters or surgery—affect their quality of life. Participants fill out questionnaires about their bladder routine and daily well-being. The goal is to identify which s…

This study is for children up to 4 years old with congenital myotonic dystrophy type 1 (CDM). Researchers want to find better ways to measure how the disease affects motor skills and language, and to identify biological markers. The goal is to improve future clinical trials and c…

This study aims to collect DNA samples and detailed eye exam data from 1,000 people with rare inherited eye diseases like aniridia, Best disease, and albinism. Participants provide a saliva or blood sample and share their eye health records. The goal is to expand a research repos…

This study is watching for side effects in 50 children in India who are prescribed somatrogon, a long-acting growth hormone injection for growth hormone deficiency. The goal is to see how safe the drug is during routine care over 3 years. Participants do not have to visit the cli…

This study gathers medical information from people with MNGIE, a rare genetic disease that affects the nerves and digestive system. Researchers want to learn how the disease progresses and find better ways to measure it. Up to 50 patients worldwide can join, and no new treatments…

This study aims to learn why myotonic dystrophy type 1 affects children differently than adults, and why symptoms vary even within the same family. Researchers will observe 100 children (ages 0-17) through video calls and simple at-home activities, and analyze their genes from a …

This study aims to learn more about Chediak-Higashi syndrome, a rare genetic disorder that causes light skin and hair, easy bruising, and frequent infections. Researchers will observe up to 60 patients over time, collecting clinical and genetic data to better understand the disea…

This observational study aims to find biological markers (biomarkers) for RAI1-related disorders, including Smith-Magenis and Potocki-Lupski syndromes. Researchers will study 90 participants through clinical exams, blood tests, optional skin biopsies, and sleep studies. The goal …

This study looks at whether a longer fasting period before an upper endoscopy can lower the risk of stomach contents entering the lungs (aspiration) in people taking GLP-1 receptor agonists (like Ozempic or Wegovy). Researchers at Mayo Clinic will check the stomachs of 150 adults…

This registry collects information from people with inherited retinal diseases, like retinitis pigmentosa and Stargardt disease. Participants share their symptoms, family history, and genetic test results online. The goal is to help researchers understand these rare diseases and …

This study looks at two types of enema programs to see which one helps children and adults with spina bifida control their bowel movements better. Participants will fill out online surveys three times over a year. The goal is to find out which method prevents accidents, improves …

This study follows 900 children with growth hormone deficiency who are already taking SKYTROFA (lonapegsomatropin). Researchers will track side effects and measure how close children get to normal adult height. The goal is to see how well the drug works in everyday medical practi…

This study watches how children under 5 with LAMA2-related muscular dystrophy move and develop over two years. Researchers will test muscle function, swallowing, breathing, and collect blood samples. The goal is to learn more about the disease so future treatments can be tested e…

This study tests a digital dashboard tool to help community workers deliver a family-based mental health program called Sugira Muryango in Rwanda. The goal is to see if the technology improves how well the program is delivered, including fidelity and worker confidence. Over 1,800…

This study looks at how a 2-week, personalized therapy program helps children aged 4-12 with conditions like cerebral palsy, autism, or genetic disorders. Kids get about 2.5 hours of tailored therapy each day, focusing on skills like movement, attention, and communication. The go…

This research study at Boston Children's Hospital is looking at the genes and proteins involved in congenital myopathies—rare muscle diseases that are present from birth. Researchers will analyze DNA from up to 4,000 participants, including patients and their family members, to f…

This study follows 100 people in Spain with nemaline myopathy, a rare muscle disease, to see how their symptoms change over time. Researchers will use ultrasound, movement tests, and breathing checks to map the disease's natural course. The goal is to build a detailed patient dat…

This study aims to identify genetic factors that affect how severe muscle and heart problems become in people with LMNA gene mutations. Researchers will collect skin and muscle samples from 40 participants and use advanced DNA and RNA analysis to look for protective or aggravatin…

This study is testing how growth hormone and liraglutide (a diabetes drug) affect appetite, energy use, and blood sugar in healthy adults and those with growth hormone deficiency. Forty participants will receive each treatment or placebo for 21 days, with blood tests and body mea…

This study looks at a special clinic called TLC that helps adults with conditions like cerebral palsy, spina bifida, and developmental disabilities get better, coordinated care. Many of these people face a 'cliff' when they leave children's healthcare and struggle to find adult d…

This study tests a new, radiation-free ultrasound technology called REMS to measure bone density in children aged 5 to 18 who have conditions that weaken bones, such as brittle bone disease or osteoporosis. The goal is to see if REMS can work as well as the standard X-ray method …

This observational study will follow 2000 children and adults with imprinting disorders—rare genetic conditions like Silver-Russell and Prader-Willi syndromes. Researchers aim to describe the natural history of these diseases and identify common metabolic profiles, risks for obes…

This study aims to understand the full burden of 9 rare skin diseases—including physical, emotional, social, and financial challenges—on patients and their families. Researchers will use special questionnaires to track how these conditions affect daily life and care needs. About …

This study aims to find genes that cause eye misalignment (strabismus) and related conditions involving the cranial nerves and brainstem. Researchers will analyze DNA from up to 20,000 participants with these disorders. The goal is to better understand the genetic causes, which c…

This study follows 500 children with growth hormone deficiency who are already taking lonapegsomatropin to check for long-term safety risks like cancer or diabetes. It is a non-interventional study, meaning no new treatment is given—just observation under real-world conditions in…

This study looks at psychiatric symptoms in people with White-Sutton syndrome, a rare genetic condition. Researchers will interview 30 children and adults and use standard questionnaires to identify anxiety, OCD, autism, and other issues. The goal is to better understand these sy…

This study aims to create a national registry for people with Myotonic Dystrophy Type 1 (DM1) in Spain. Researchers will collect clinical data, genetic information, and patient reports from up to 3,000 participants. The goal is to better understand the disease and identify people…

This study is creating a large registry and tissue bank for people with mitochondrial disorders. Researchers will collect medical information and samples from up to 1,000 participants, including those diagnosed with or suspected to have a mitochondrial disease. The goal is to gat…

This study follows 150 people aged 7 and older with RYR1-related muscle disorders for 3 to 5 years. Researchers will collect medical history, perform physical exams, and use questionnaires, activity trackers, and tests of heart, lung, and muscle function. The goal is to better un…

This study is creating a large database to collect information on people with rare diseases like amyloidosis, sarcoidosis, and Gaucher disease. Researchers will track patients' health over time, including their symptoms, treatments, and outcomes. The goal is to improve diagnosis …

This study is a registry that collects health information from people in Switzerland who have neuromuscular disorders like SMA, DMD, BMD, and others. It aims to track symptoms, treatments, and outcomes over time to help researchers and doctors improve care. No new treatments are …

This study is gathering medical and educational information from up to 4,000 people with chromosome 18 abnormalities and their families. The goal is to better understand these rare conditions and provide better resources and care. Participants must be at least one year old and in…

This study collects information from people with ASXL-related disorders (such as Bohring-Opitz syndrome) to better understand how these conditions progress and are managed. No new treatments are tested; instead, participants share their medical history and records through surveys…

This study is testing whether certain substances in urine (called biomarkers) can predict kidney damage in people with spina bifida. Researchers will measure these biomarkers in 50 patients and compare them to a standard risk score. The goal is to find a non-invasive way to monit…

This study is collecting blood, tissue, and medical information from up to 1,000 people with RASopathies—a group of genetic conditions that affect development and raise cancer risk. Researchers will store these samples and data in a database for future studies. The goal is to lea…

This study aims to find genetic variants linked to strabismus (crossed eyes) and nystagmus (involuntary eye movements). Researchers will analyze DNA from families with at least three members who have strabismus, or families with infantile esotropia or nystagmus. By comparing affe…

This study aims to learn how the binding of RNA with DNA (called R-loops) is linked to amyotrophic lateral sclerosis type 4 (ALS4) and other inherited neurological disorders. Researchers will observe up to 330 people aged 5 and older, including those with ALS4, related conditions…

This 24-month observational study will follow up to 1000 people with certain types of muscular dystrophy (LGMD, DM2, and late-onset Pompe disease) aged 6-50. Researchers want to see if specific physical tests, like the North Star Assessment and a 100-meter walk, are good ways to …

This registry aims to connect people diagnosed with myotonic dystrophy (DM) or facioscapulohumeral muscular dystrophy (FSHD) with researchers. By joining, participants help scientists better understand these inherited muscle-weakening diseases and develop future treatments. The r…

This study uses mild electrical stimulation on the skin of the lower back to measure how well nerves and muscles work in 30 children and teens with spina bifida. Researchers will test muscle strength, spasticity, walking speed, and coordination. The goal is to better understand s…

This study looks at how stroke survivors' arm muscles respond when they imagine or watch movements. Researchers measure tiny muscle signals in the wrist and fingers during these mental exercises. The goal is to understand which techniques best help the brain relearn movement afte…

This study is testing whether a mobile health app system can help people with chronic conditions like spinal cord injury, cerebral palsy, spina bifida, or traumatic brain injury improve their self-management skills and wellness. About 160 participants will use the app for one yea…

The Dragonfly study is an international observational project tracking the development of 250 children and adults with CTNNB1 neurodevelopmental syndrome. Researchers will collect medical history, perform neurological exams, and use questionnaires to understand how symptoms and a…