Intellectual disability, autosomal recessive 53

This study tests whether adding the drug vorinostat to standard care can prevent graft-versus-host disease (GVHD) in children and young adults (ages 1-26) with non-cancerous blood disorders who are getting a bone marrow transplant. GVHD is a serious complication where donor cells…

This study tests a dietary supplement called Cardiol Forte in 50 adults with mildly high cholesterol but low overall heart risk. Participants will take either the supplement or a placebo for 8 weeks, then everyone gets the supplement for another 8 weeks. The goal is to see if it …

This study tests whether a simple saliva swab can find genetic causes of neurodevelopmental or intellectual disorders when standard blood tests have not. Researchers will use advanced DNA sequencing on cheek cells from 50 participants. The goal is to improve diagnosis and help gu…

This trial will test an artificial intelligence system designed to interpret routine newborn screening tests for inherited metabolic disorders. Researchers will compare the AI's accuracy to standard manual review by trained staff. The study plans to include 200,000 newborns in Ch…

This study aims to validate a French translation of the SOSI-M test, which measures sensory integration in children. Researchers will film 60 children (30 healthy, 30 with mild to moderate neurodevelopmental disorders) taking the test and compare scores. The goal is to see if the…

This study will test whether using results from a sensory integration assessment can improve counseling for children aged 3-12 with neurodevelopmental problems like sensory sensitivity or coordination difficulties. Researchers will measure changes in sensory processing and daily …

This study looks at using simple, low-cost communication tools like picture boards and gestures for children with autism who have trouble speaking. It involves 500 children and their caregivers in rural Virginia and western Kenya. The goal is to find better ways to match each chi…

This study will use a digital platform with game-like tasks to measure thinking and reading skills in 300 children aged 3-11 who are suspected of having a neurodevelopmental disorder. The goal is to create detailed cognitive profiles before a formal diagnosis, helping to identify…

This 10-year observational study will follow 10,000 adults with diabetes, metabolic disorders, and related conditions like high blood pressure and fatty liver disease. Researchers will collect routine medical data to identify markers of disease severity and activity. The goal is …