Al Gazali Khidr Prem Chandran syndrome
MONDO:0021838A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. This is an n-of-1 use case where only one patient or family has been described with this disorder.
Also known as: cherubism, optic atrophy and short stature
140 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
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Text reminders and calls help veterans take lifesaving pills
Disease control CompletedThis study tested a program to help veterans with heart disease or rheumatic conditions take their medications as prescribed. Over 5,000 participants received reminders via text or phone calls, with extra support if needed. The goal was to improve medication adherence and reduce …
Phase: NA • Sponsor: VA Office of Research and Development • Aim: Disease control
Last updated Jun 27, 2026 12:37 UTC
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Can flu shots protect autoimmune patients?
Disease control CompletedThis study looked at how well flu vaccines (seasonal and H1N1) work in 234 adults with autoimmune diseases like lupus or vasculitis, some of whom were on steroids or immunosuppressants. Researchers measured antibody levels three weeks after each shot to see if the vaccine provide…
Phase: PHASE4 • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Disease control
Last updated Jun 27, 2026 07:59 UTC
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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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Can a pill shield ears from chemo damage?
Prevention CompletedThis study tests whether the drug SENS-401 can prevent hearing loss caused by cisplatin, a common chemotherapy. Adults with cancer who are scheduled to receive cisplatin take SENS-401 before, during, and after treatment. Hearing is measured with a standard test to see if the drug…
Phase: PHASE2 • Sponsor: Sensorion • Aim: Prevention
Last updated Jul 04, 2026 00:00 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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Stretchy skin may reveal heart risks in rare genetic condition
Knowledge-focused CompletedThis study looked at how stretchy the skin and blood vessels are in people with Williams syndrome, a genetic condition that can cause heart problems. Researchers measured skin and pulse speed in 43 participants aged 5 to 70. The goal was to learn how these tissues change over tim…
Sponsor: National Heart, Lung, and Blood Institute (NHLBI) • Aim: Knowledge-focused
Last updated Jul 04, 2026 00:00 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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Scientists hunt for genetic and environmental triggers of rare muscle diseases
Knowledge-focused CompletedThis study looked at 719 people, including patients with autoimmune connective tissue diseases like myositis, their blood relatives, and healthy volunteers. Researchers collected blood samples and medical histories to find genetic and environmental factors that may trigger these …
Sponsor: National Institute of Environmental Health Sciences (NIEHS) • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
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Pandemic stress hits hard for arthritis patients
Knowledge-focused CompletedThis completed study looked at how the COVID-19 pandemic and social distancing impacted the mental health of 259 adults with chronic inflammatory rheumatism (like rheumatoid arthritis or ankylosing spondylitis). Researchers used questionnaires to measure stress, depression, anxie…
Phase: NA • Sponsor: University Hospital, Bordeaux • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:04 UTC
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Can a registry help more families get tested for cancer genes?
Knowledge-focused CompletedThis study looked at 545 people with hereditary cancer syndromes and their relatives. It compared the usual method of asking patients to share testing information with family members to a new method where a registry also sends reminders. The goal was to see if the registry-aided …
Phase: NA • Sponsor: National Cancer Centre, Singapore • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:03 UTC
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Teens' fitness tracked by smartwatches in new digital health study
Knowledge-focused CompletedThis study tested a smartwatch and mobile app platform called Pedi@Ctivity to track physical activity in 362 adolescents, including those with chronic rheumatic disease. The goal was to collect big data and use AI to analyze activity patterns and create personalized exercise prog…
Phase: NA • Sponsor: Istanbul University - Cerrahpasa • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:00 UTC
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Digital tool helps families navigate Kids' cancer risk
Knowledge-focused CompletedThis study tested whether digital care plans and text message reminders help families of children with cancer predisposition syndromes better understand their child's condition. Researchers enrolled 177 parents and measured changes in knowledge and how acceptable the digital tool…
Phase: NA • Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:37 UTC
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Massive study reveals COVID-19 risks for autoimmune patients
Knowledge-focused CompletedThis study looked at over 13,000 people with chronic inflammatory rheumatism or autoimmune diseases who had or were suspected to have COVID-19. Researchers tracked how many developed severe COVID-19 requiring intensive care or leading to death. They also examined risk factors lik…
Sponsor: University Hospital, Lille • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:37 UTC
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Study questions need for frequent blood tests in common arthritis drug
Knowledge-focused CompletedThis study looked at over 2,400 people with rheumatic diseases who take methotrexate. Researchers compared those who had standard lab monitoring to those who had fewer blood tests. The goal was to see if reduced monitoring is as safe in terms of preventing organ damage or death.
Sponsor: Mayo Clinic • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:04 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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Study finds no difference in COVID anxiety between biologic and conventional drug users
Knowledge-focused CompletedThis completed study looked at anxiety about COVID-19 in 200 adults with rheumatic diseases who were already taking either biologic or conventional disease-modifying drugs. Researchers called participants and asked them to fill out a questionnaire about their coronavirus-related …
Sponsor: Bursa City Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:09 UTC
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Can virtual doctor visits match In-Person care for rheumatic diseases?
Knowledge-focused CompletedThis study looked at whether video or phone visits (tele-rheumatology) work as well as in-person visits for people with rheumatic diseases like arthritis. Over 650 adults took part, and researchers measured how satisfied they were with each type of visit and which they preferred.…
Phase: NA • Sponsor: University of Alabama at Birmingham • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:07 UTC
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Gene sequencing uncovers mysterious fetal malformations
Knowledge-focused CompletedThis study tested whether a powerful DNA test called high-throughput exome sequencing can find genetic causes of multiple birth defects in fetuses when standard exams fail. Researchers studied 100 fetuses with at least two malformations and no prior diagnosis. They compared the n…
Sponsor: Centre Hospitalier Universitaire Dijon • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:03 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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Speedy gene test aims to give answers on birth defects in just 7 days
Knowledge-focused CompletedThis study tested whether a fast type of genetic test called rapid genome sequencing can find the cause of birth defects seen on ultrasound more quickly than current methods. Researchers included 184 pregnancies with certain ultrasound findings. The goal was to see if results cou…
Sponsor: Centre Hospitalier Universitaire Dijon • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:00 UTC
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New blood tests could help monitor Flare-Ups in kids with arthritis
Knowledge-focused CompletedThis study measured two newer blood markers (calprotectin and serum amyloid protein) alongside standard tests in 20 children with juvenile arthritis and related conditions. The goal was to see if these markers could better track disease flare-ups in everyday clinic visits. The st…
Sponsor: Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:12 UTC
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Immunotherapy side effects under the microscope: new study monitors autoantibodies
Knowledge-focused CompletedThis completed study followed 183 cancer patients starting checkpoint inhibitor therapy to see how often they develop autoantibodies—proteins that can mistakenly attack the body's own tissues. Researchers collected blood samples to track changes in several types of autoantibodies…
Sponsor: CHU de Reims • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:01 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
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New Doctor-Led approach aims to boost medication adherence in rheumatic disease patients
Knowledge-focused CompletedThis study tested a simple approach where doctors review pharmacy refill data during clinic visits and talk with patients about their medications. The goal was to see if this method is practical and acceptable for improving medication adherence in people with chronic rheumatic di…
Phase: NA • Sponsor: Duke University • Aim: Knowledge-focused
Last updated Jun 26, 2026 14:30 UTC
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Gene hunt: scientists probe rare connective tissue variants
Knowledge-focused CompletedThis completed study looked at 32 people with known genetic changes in connective tissue genes to better understand how these changes affect overall health. Participants underwent a range of medical tests and exams over 3-5 days. The goal was to gather information, not to test a …
Sponsor: National Heart, Lung, and Blood Institute (NHLBI) • Aim: Knowledge-focused
Last updated Jun 26, 2026 14:10 UTC
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Mailed DNA tests could help families catch cancer early
Knowledge-focused CompletedThis study looked at whether mailing at-home genetic testing kits to relatives of people with hereditary cancer gene variants could increase the number of relatives who get tested. Researchers compared this approach to usual care in 108 participants. The goal was to see if making…
Phase: NA • Sponsor: University of Texas Southwestern Medical Center • Aim: Knowledge-focused
Last updated Jun 26, 2026 13:30 UTC