Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
MONDO:0017196Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents.
Also known as: Al Gazali-Nair syndrome, Al Gazali Sabrinathan Nair syndrome, osteogenesis imperfecta retinopathy seizures intellectual deficit
86 clinical trials for this condition and its sub-types.
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New scale could help predict fall risk for hospital patients in turkey
Diagnosis CompletedThis study tested a Turkish version of the Johns Hopkins In-Room Independence Scale, which measures a patient's ability to move, use the toilet, and think clearly while in their hospital room. Researchers worked with 100 adults who had conditions like stroke, Parkinson's, or ampu…
Sponsor: Sisli Hamidiye Etfal Training and Research Hospital • Aim: Diagnosis
Last updated Jun 27, 2026 09:08 UTC
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AI eye scan could diagnose brain diseases in seconds
Diagnosis CompletedResearchers 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…
Sponsor: Fondation Ophtalmologique Adolphe de Rothschild • Aim: Diagnosis
Last updated Jun 26, 2026 14:30 UTC
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Cannabinoid drug tested for aggression in disabled adults
Symptom relief CompletedThis early-phase trial tested the safety of nabilone, a synthetic cannabinoid, in 20 adults with intellectual and developmental disabilities who have severe aggression. The goal was to see if the drug is well-tolerated and to gather initial data on whether it might reduce aggress…
Phase: PHASE1 • Sponsor: Hsiang-Yuan Lin • Aim: Symptom relief
Last updated Jun 27, 2026 08:13 UTC
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Physiotherapy students test muscle relief techniques on themselves
Symptom relief CompletedThis study looked at how common muscle and posture problems are in physiotherapy students and whether a special physiotherapy program could help. 44 students with back pain and muscle tightness received treatments like trigger point release, stretching, and joint mobilization. Th…
Phase: NA • Sponsor: Charles University, Czech Republic • Aim: Symptom relief
Last updated Jun 27, 2026 08:13 UTC
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Who should control your sedation during surgery? new study compares options
Symptom relief CompletedThis study looked at whether letting patients control their own sedation during arm surgery under regional anesthesia leads to higher satisfaction compared to having an anesthesiologist control it. 70 adults having upper limb orthopedic surgery were randomly assigned to either pa…
Phase: NA • Sponsor: GCS Ramsay Santé pour l'Enseignement et la Recherche • Aim: Symptom relief
Last updated Jun 27, 2026 07:59 UTC
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Soothing sounds: slow music eases anxiety during eye procedures
Symptom relief CompletedThis 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…
Phase: NA • Sponsor: Ng Yu Siang • Aim: Symptom relief
Last updated Jun 27, 2026 07:52 UTC
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Study explores how family and friends impact caregiver health
Knowledge-focused CompletedThis 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…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Jul 02, 2026 00:00 UTC
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New turkish health survey could improve care for muscle and joint problems
Knowledge-focused CompletedThis study translated the Generic Functional Index, a questionnaire that measures how well people can do daily activities, into Turkish. Researchers tested it with 200 adults who have muscle or joint problems to see if it is accurate and reliable. The goal is to give Turkish-spea…
Sponsor: Istanbul Bilgi University • Aim: Knowledge-focused
Last updated Jun 28, 2026 00:00 UTC
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New eye scanner aims to sharpen view of retinal disease
Knowledge-focused CompletedThis 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…
Phase: NA • Sponsor: Optos, PLC • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:02 UTC
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AI boosts eye Doctors' accuracy in reading retinal scans?
Knowledge-focused CompletedThis 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…
Sponsor: Xiamen Ophthalmology Center Affiliated to Xiamen University • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
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Paws for thought: cat training program shows promise for youth with disabilities
Knowledge-focused CompletedThis study tested a new program where early adolescents with developmental disabilities learned to train their family cat using positive reinforcement. The goal was to see if the training could improve the cat's attachment to the child and give the child a sense of responsibility…
Phase: NA • Sponsor: Oregon State University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:06 UTC
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Smart homes for seniors: telemonitoring trial aims to cut hospital stays
Knowledge-focused CompletedThis 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 …
Phase: NA • Sponsor: University Hospital, Limoges • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:00 UTC
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Physios take on ER duty: study tests if they can replace doctors for back pain
Knowledge-focused CompletedThis study tested whether specially trained physiotherapists can safely diagnose and treat non-urgent muscle and joint pain in the emergency room, compared to standard care from doctors. 102 patients with back, neck, or shoulder pain were randomly assigned to either a physiothera…
Phase: NA • Sponsor: Bern University of Applied Sciences • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:00 UTC
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Italian swallowing assessment tool validated for neurodegenerative patients
Knowledge-focused CompletedThis 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…
Sponsor: Istituti Clinici Scientifici Maugeri SpA • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:09 UTC
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New program aims to boost tech careers for young adults with disabilities
Knowledge-focused CompletedThis study tested a program called TECH-Prep designed to help African American high school students and young adults with developmental disabilities explore careers in technology. The program included training and internships to increase interest in tech jobs, confidence, and rea…
Phase: NA • Sponsor: University of Wisconsin, Madison • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:07 UTC
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Brain scans and memory tests shed light on how the brain works after injury
Knowledge-focused CompletedThis 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…
Phase: NA • Sponsor: University Hospital, Rouen • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:02 UTC
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Which toothbrush works best for kids with special needs? study finds out!
Knowledge-focused CompletedThis study tested whether a triple-headed toothbrush removes more dental plaque than a regular single-headed toothbrush when parents brush the teeth of preschool children with developmental disabilities. Twenty-four children aged 3 to 6 years participated, and each child tried bo…
Phase: NA • Sponsor: Mahidol University • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:00 UTC
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Can CRPS patients imagine movement? new study investigates
Knowledge-focused CompletedThis completed study compared how well people with complex regional pain syndrome (CRPS), people with other muscle or bone pain, and healthy individuals can imagine movements. Researchers used a questionnaire called the MIQ-RS to measure motor imagery skills. The goal was to see …
Phase: NA • Sponsor: Centre Hospitalier Universitaire de Nīmes • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:01 UTC
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Mind, spirit, and pain: new study explores what chronic pain patients really believe
Knowledge-focused CompletedThis study surveyed 116 adults with chronic pain at a rehabilitation clinic to understand how their pain beliefs, spiritual well-being, and attitudes toward complementary and alternative medicine are related. Participants filled out several questionnaires about their pain, mood, …
Sponsor: Gulseren Demir Karakilic • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:53 UTC