RARE DISEASES
Clinical trials for RARE DISEASES explained in plain language.
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AI could shorten the long road to a rare disease diagnosis
Diagnosis Not yet recruitingThis trial tests whether a special AI system can help doctors diagnose rare diseases more accurately and efficiently. About 1,000 people with suspected rare or hard-to-diagnose conditions will take part. Before seeing the doctor, the AI will gather the patient's medical history a…
Matched conditions: RARE DISEASES
Phase: NA • Sponsor: Peking Union Medical College Hospital • Aim: Diagnosis
Last updated Jun 27, 2026 14:00 UTC
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AI vs. rare diseases: can a computer Out-Diagnose doctors?
Diagnosis Not yet recruitingThis study tests whether an artificial intelligence (AI) tool can help doctors better diagnose rare diseases. About 150 doctors will either use the AI or rely on standard methods to diagnose real patient cases. The goal is to see if AI improves accuracy and speed, which could lea…
Matched conditions: RARE DISEASES
Phase: NA • Sponsor: Peking Union Medical College Hospital • Aim: Diagnosis
Last updated Jun 27, 2026 13:04 UTC
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Rare disease study seeks to understand family coping
Knowledge-focused Not yet recruitingThis study looks at how children with rare diseases and their families adjust emotionally over time. Researchers will survey 240 families in German-speaking areas, asking about stress, coping, and communication. Some families will also report daily experiences via smartphone. The…
Matched conditions: RARE DISEASES
Sponsor: Markus A. Landolt • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:00 UTC
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New DNA reader could crack unsolved rare disease cases
Knowledge-focused Not yet recruitingThis study tests a new DNA sequencing method that reads long stretches of DNA to find hidden genetic changes causing rare diseases like albinism and intellectual disability. Researchers will analyze stored blood or DNA from 150 patients who haven't gotten a clear diagnosis yet. T…
Matched conditions: RARE DISEASES
Sponsor: University Hospital, Bordeaux • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:03 UTC
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Scientists hunt for biomarkers to unlock rare eye disease treatments
Knowledge-focused Not yet recruitingThis study aims to find biological markers (biomarkers) in blood, tears, and eye cells from 110 adults with seven rare eye diseases. Researchers will compare these markers between patients and healthy controls to see if they differ and if they relate to disease symptoms. The goal…
Matched conditions: RARE DISEASES
Phase: NA • Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:02 UTC