Infantile cerebellar-retinal degeneration

This study tested two different chemotherapy drugs (Treosulfan and Busulfan) given before a stem cell transplant in 106 children with serious non-cancer diseases like immune disorders, metabolic diseases, blood disorders, and bone marrow failure. The goal was to see which drug le…

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 study tested a new method called global metabolomic profiling to diagnose inborn errors of metabolism, a group of rare genetic disorders. Researchers compared this approach to traditional testing in 240 participants. The goal was to see if the new method could more accuratel…

Researchers tested an artificial intelligence program that analyzes retinal images to diagnose several nerve and brain conditions, such as optic neuropathy and brain tumors. The study used data from 693 patients with confirmed diagnoses. The goal is to create a fast triage tool f…

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 study created a registry of medical records from women with inborn errors of metabolism—rare conditions that affect how the body turns food into energy. Researchers collected data from past or current pregnancies and followed babies for one year after birth. The goal was to …

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 whether home automation and remote monitoring can help elderly people (65+) with multiple chronic conditions live safely at home. Over 500 participants had their homes equipped with sensors that tracked health signs and sent alerts to doctors. The main goal was …

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 aimed to translate and validate an Italian version of a tool that helps speech therapists assess swallowing difficulties (dysphagia) in people with neurodegenerative diseases like Parkinson's or ALS. Researchers tested the tool on 101 adults with such conditions to ens…

This completed study looked at how different types of brain damage—from strokes, tumors, infections, or degenerative diseases—affect thinking and memory. Researchers used brain scans (MRI) and cognitive tests in 346 patients and healthy volunteers to map which brain areas are res…

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 study looked at how many girls and young women aged 11 to 20 with chronic diseases (like diabetes or immune conditions) got the HPV vaccine, compared to those without chronic illness. Researchers reviewed records of 223 participants from a hospital in France. The goal was to…