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Homocystinuria
MONDO:0004737An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.
Also known as: homocystinuria, homocystinuria (disease), CBS deficiency, cystathionine beta synthase deficiency, cystathionine synthase deficiency
12 clinical trials for this condition and its sub-types, 7 tagged with Homocystinuria itself.
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Sub-types of Homocystinuria
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Classic homocystinuria 4 trials
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Hyperhomocysteinemia 3 trials
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Methylmalonic aciduria and homocystinuria 1 trial · 3 incl. sub-types
6 sub-types
- Methylmalonic aciduria and homocystinuria type cblC 3 trials
- Methylmalonic aciduria and homocystinuria type cblD 2 trials
- Methylmalonic acidemia with homocystinuria, type cblJ 1 trial
- Methylmalonic aciduria and homocystinuria type cblF 1 trial
- Methylmalonic acidemia with homocystinuria, type cblX 0 trials
- Methylmalonic aciduria and homocystinuria, cb1L type 0 trials
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Homocystinuria without methylmalonic aciduria 0 trials · 2 incl. sub-types
4 sub-types
- Methylcobalamin deficiency type cblE 2 trials
- Methylcobalamin deficiency type cblG 2 trials
- Homocystinuria-megaloblastic anemia cblD type 0 trials
- Methylcobalamin deficiency type cblDv1 0 trials
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New drug pegtibatinase tested for rare metabolic disorder over two years
Disease control By invitation onlyThis 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
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
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Could a simple creatine pill replace strict diets for a rare metabolic disorder?
Knowledge-focused OngoingThis early study tests whether taking creatine supplements for a week can lower the production of homocysteine, a toxic amino acid, in healthy adult men. Homocystinuria is a rare inherited disorder where the body cannot break down homocysteine, often requiring a difficult low-pro…
Sponsor: University of British Columbia • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:04 UTC