Classic homocystinuria

MONDO:0009352

Classical 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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Where it sits in the disease tree

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Part of

↑ Developmental anomaly of metabolic origin (383) ↑ Lens disorder (319) ↑ Homocystinuria (11)

Including sub-types (6) Tagged with Classic homocystinuria (4)

Trials to join now! 2 Not yet finished but already full! 1 Completed 1

New drug pegtibatinase tested for rare metabolic disorder over two years

Disease control By invitation only

This study tests the long-term safety and effectiveness of pegtibatinase in people with classical homocystinuria (HCU), a rare genetic disorder that prevents the body from breaking down certain amino acids. About 100 participants who completed earlier studies will receive the dru…

Phase 3 • Sponsor: Travere Therapeutics, Inc. • Aim: Disease control

Last updated Jun 27, 2026 12:38 UTC

Classic homocystinuria

Where it sits in the disease tree

New drug pegtibatinase tested for rare metabolic disorder over two years