Central nervous system malformation

This Phase 2 study tests an oral drug called RLY-2608 in adults and children with overgrowth conditions (like CLOVES or Klippel-Trenaunay syndrome) caused by PIK3CA gene mutations. The drug is designed to block the faulty protein driving abnormal tissue growth. The trial will enr…

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 early-phase trial is testing whether adding low-dose radiation to standard immunotherapy and chemotherapy is safe for people with colorectal cancer that has spread only to the liver. About 9 to 18 participants will receive the combination treatment. The main goal is to check…

This early-stage trial is testing whether a combination of two natural substances, deoxycytidine and deoxythymidine, is safe for people with telomere biology disorders. These rare genetic conditions cause premature aging, bone marrow failure, and lung scarring. Up to 36 participa…

This phase 2 trial tests alpelisib, a drug originally developed for cancer, in 20 people aged 2 to 40 with MCAP syndrome—a rare condition causing an enlarged brain, blood vessel issues, and developmental delays. Participants receive either alpelisib or a placebo for 6 months, the…

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 phase 2 trial is testing a stem cell transplant using a milder chemotherapy regimen to treat people with severe immune deficiencies and inherited bone marrow failure. The goal is to see if donor cells can safely take over and rebuild a healthy immune system. Up to 27 partici…

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 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 observational study follows 150 people with MEHMO syndrome or related conditions to better understand how the disease progresses. Researchers will collect medical history, imaging, and lab samples to find biological markers that could help monitor the disease. No treatment i…

This study is gathering medical information and samples from up to 5,000 people with neurosurgical conditions like brain tumors, epilepsy, and Parkinson's disease. Participants receive standard care while their data is collected for future research. No new treatments are being te…

This study aims to find genetic mutations in the brain that cause drug-resistant epilepsy in children. Researchers will compare DNA from blood and brain tissue, including samples from special electrodes placed in the brain. The goal is to better understand the root causes of thes…

This study is gathering information from 4500 people who have or will have brain surgery for conditions like aneurysms, tumors, epilepsy, and Parkinson's disease. The goal is to find patterns that help doctors predict how well someone will recover. By standardizing how outcomes a…

This study looks at DNA methylation patterns (chemical tags on DNA) in fetuses with rare genetic diseases. Researchers will analyze DNA from amniotic fluid and tissue samples to create reference signatures. The goal is to improve diagnosis of these conditions before birth. The st…

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 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…

This study aims to create and validate a Turkish version of a short neurological exam called the BRIEF-HINE for babies at high risk of brain problems. Researchers will test 120 infants aged 3 to 12 months who have conditions like premature birth or brain injury. The goal is to se…

This study is testing whether using rapid genetic sequencing can help doctors diagnose and treat birth defects in newborns in intensive care. Researchers will enroll 2,000 babies and compare death rates, disability rates, and genetic findings. The goal is to see if personalized t…

This study aims to learn more about rare disorders that affect how the body processes chemicals called pyrimidines and purines. These disorders can cause problems in the brain, blood, kidneys, and immune system, ranging from mild to life-threatening. Researchers will compare test…