Microcephaly and chorioretinopathy 1

This study tested whether analyzing a patient's DNA and RNA could help doctors pick the right drug for inflammatory diseases that don't fit standard categories. 32 adults with at least two affected organs (including skin) received one of six targeted therapies based on their mole…

This study looked at how well a new, quick finger-prick test (LumiraDx CRP) measures CRP levels compared to a standard lab test. CRP is a marker of infection, inflammation, or tissue injury. 79 adults with symptoms of these conditions took part. The goal was to see if the new tes…

This study tested whether an iPad game (Play.Care) could help diagnose autism spectrum disorder (ASD) in children aged 2.5 to 5 years. The game measures how children move while playing, since movement differences may be early signs of autism. Researchers compared the game's resul…

This study tested an artificial intelligence (AI) system called Retina4IRD that helps doctors diagnose inherited retinal diseases, which are rare eye conditions that can cause vision loss. The AI looks at eye images and patient information to suggest which gene might be causing t…

This early study tested a new radioactive tracer called 18F-FDS in 16 people with suspected bacterial or fungal infections. The tracer is designed to light up infection sites on PET/CT scans, helping doctors see exactly where an infection is. The goal was to check how the tracer …

This study tested whether playing slow tempo music before and during an eye injection (intravitreal injection) can reduce anxiety and pain. 144 adults took part, with half listening to music and the other half receiving standard care. Researchers measured anxiety using saliva tes…

This completed trial tested a 5-session group program for siblings and parents of children with chronic illness. The goal was to improve sibling mental health, family communication, and quality of life. 288 families participated, with some receiving the program immediately and ot…

This completed study looked at how the social networks of caregivers affect their stress and health when caring for someone with an inherited disease. Researchers surveyed over 680 participants, including family members and formal caregivers, to understand caregiving burden and s…

This trial tests a new device called P200TxE that takes detailed images of the back of the eye. Researchers want to see how well it captures images in people with retinal diseases like glaucoma or macular degeneration. The study involves adults aged 22 and older who have been dia…

This study tested whether artificial intelligence (AI) can help doctors detect retinal diseases from ultra-widefield eye images. 462 images were read by four eye doctors with different experience levels, both with and without AI assistance. The goal was to see if AI improves accu…

This study tested a new type of camera that can see individual cells in the retina, which standard clinical cameras cannot do. Five people with retinal disease (inherited degeneration or toxicity) had their eyes scanned with the device. The goal was to compare image quality and o…

This study collected information from nearly 1,000 people in France with inherited retinal diseases (IRDs) to better understand the genetics behind these conditions. Researchers looked at genetic test results and disease types to help build a national registry. The goal is to imp…

This completed study looked at whether children with neurodevelopmental disorders (like mitochondrial disease, cerebral palsy, or developmental delay) have fewer small nerve fibers in their skin, which could cause pain. Researchers took small skin biopsies from 203 children—some …

This study tested a set of questions to better identify suicide risk in young people aged 8–17 with autism or other neurodevelopmental disorders. Researchers asked 278 participants and their parents about thoughts of self-harm and understanding of death. The goal was to create a …