X-linked syndromic intellectual disability

This study is for adults with recurrent glioblastoma, an aggressive brain cancer. It tests whether adding a precise type of radiation (stereotactic radiosurgery guided by a special PET scan) to a device that delivers electric fields to the brain (TTFields) helps people live longe…

This program offers early access to tiratricol, a thyroid hormone-like drug, for people with Allan-Herndon-Dudley syndrome (AHDS), a rare genetic condition that affects brain development and movement. Patients must have a confirmed genetic diagnosis and be considered likely to be…

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 trial tests a drug called DITPA in male infants with MCT8 deficiency, a rare genetic disorder that causes severe intellectual disability and movement problems. The drug aims to improve thyroid hormone function in the brain. Only infants whose families have a history of the c…

This study tests whether a team of a psychologist, speech therapist, and motor therapist can help children aged 2-7 with neurodevelopmental disorders eat more foods and have fewer mealtime struggles. 24 children will be split into two groups: one gets the team therapy, the other …

This study tests a new approach called ENGAGE, where children with disabilities (like autism or cerebral palsy) help set their own therapy goals. About 96 kids aged 5-12 and their therapists will be split into two groups: one using ENGAGE and the other using usual therapy. Resear…

This study tests whether a speech therapy that involves parents can improve early social and communication skills in children aged 6 months to 5 years with neurodevelopmental disabilities. One group gets the parent-focused therapy, while the other gets standard speech therapy. Re…

This study follows 450 babies born with serious heart defects to find early signs of developmental delays by 6 months of age. Researchers want to understand why over half of these children face learning, thinking, or behavior challenges later in life. The goal is to identify risk…

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 aims to learn more about childhood-onset behavioral, psychiatric, and developmental disorders by observing people of all ages who have these conditions, along with their family members. Researchers will collect medical histories, perform psychiatric assessments, and ma…

This study looks at how the brain responds to sensory inputs like sight and sound in 200 children and adults, some with neurodevelopmental disorders (NDD) and some without. Participants will have EEG recordings during sensory tasks, complete behavioral tests, and practice percept…

This study aims to learn how sleep changes as children's brains grow, by collecting sleep and development data from healthy children and those with conditions like autism or ADHD. About 244 children ages 6 months to 8 years will have overnight sleep studies, developmental tests, …

This study looks at medical records of 1000 children with conditions like autism, epilepsy, and Down syndrome to find common biological patterns. Researchers want to understand what causes these disorders and how children respond to treatments. The goal is to improve diagnosis an…

This study looks at ways to help families show up for their scheduled appointments at clinics for autism and other neurodevelopmental disorders. Researchers will test different types of reminder messages and see if having a patient navigator call high-risk families makes a differ…

This study observes 100 people with rare genetic neurodevelopmental disorders like Baker Gordon Syndrome and Syt-1 disorder. Researchers will track symptoms, collect genetic and imaging data, and create cell models to better understand these conditions. The goal is to improve dia…

This study follows 1,000 people who have certain genetic changes (hnRNP and others) that may cause developmental delays, autism, seizures, or muscle problems. Researchers collect medical records, school reports, and questionnaires to see how these gene variants affect behavior, t…

This study collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trial…

This study tests whether a child-focused goal-setting method called ENGAGE helps children with neurodevelopmental disabilities do better in therapy. About 96 kids aged 5-12 and their therapists will be split into two groups: one using ENGAGE and one using usual care. Researchers …