Classic homocystinuria
MONDO:0009352Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.
Also known as: Homocystinuria due to Cystathionine Beta-Synthase Deficiency, classic homocystinuria, cystathionine beta-synthase deficiency, homocystinuria due to cystathionine beta-synthase deficiency, homocystinuria, B6-responsive and nonresponsive types, thrombosis, hyperhomocysteinemic, CBS deficiency, homocystinuria due to CBS deficiency
6 clinical trials for this condition and its sub-types, 4 tagged with Classic homocystinuria itself.
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Mapping homocystinuria: how does this rare metabolic disorder unfold over a lifetime?
Knowledge-focused CompletedResearchers are following 110 people aged 1 to 65 who have homocystinuria caused by a missing or faulty CBS enzyme. The study observes how the condition changes over time under standard care, without testing any new treatment. Participants give blood samples, complete quality-of-…
Sponsor: Travere Therapeutics, Inc. • Aim: Knowledge-focused
Last updated Sep 11, 2026 00:00 UTC
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AI eye chatbot matches doctors in taking patient history
Knowledge-focused CompletedThis study tested whether a large language model (like ChatGPT) could collect medical history and suggest eye tests as well as doctors do. 172 patients with non-emergency eye problems took part. The AI's performance was compared to standard care, with senior specialists checking …
Sponsor: Zhongshan Ophthalmic Center, Sun Yat-sen University • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:10 UTC