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
5 clinical trials for this condition and its sub-types.
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Can a Lab-Made enzyme tame a rare genetic disorder?
Disease control Recruiting nowThis trial tests whether pegtibatinase, a lab-made version of the CBS enzyme, can safely lower homocysteine levels in people with classical homocystinuria (HCU), a rare genetic condition that causes harmful buildup of homocysteine and methionine. The study includes children and a…
Phase: PHASE1, PHASE2 • Sponsor: Travere Therapeutics, Inc. • Aim: Disease control
Last updated Aug 12, 2026 00:00 UTC
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New shot could tame rare metabolic disease
Disease control Recruiting nowThis Phase 3 trial tests pegtibatinase, an enzyme given as a shot, in 70 people aged 12–65 with classical homocystinuria. The goal is to see if it safely lowers high homocysteine levels when added to standard care. Participants receive either the drug or a placebo for 24 weeks.
Phase: PHASE3 • Sponsor: Travere Therapeutics, Inc. • Aim: Disease control
Last updated Aug 09, 2026 00:00 UTC
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NIH launches major study to unlock secrets of rare bone diseases
Knowledge-focused Recruiting nowThis study aims to collect information and bone samples from up to 1,000 people with bone or mineral disorders, such as tumor-induced osteomalacia or familial tumoral calcinosis. Participants receive standard medical evaluations and may provide bone tissue from surgery or a biops…
Sponsor: National Institute of Dental and Craniofacial Research (NIDCR) • Aim: Knowledge-focused
Last updated Aug 18, 2026 02:00 UTC