Inborn disorder of methionine cycle and sulfur amino acid metabolism
MONDO:0019222An inherited metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process.
Also known as: cytosolic methyl group transfer or sulfur amino acid metabolism disorder, cytosolic methyl group transfer or sulphur amino acid metabolism disorder, inborn error of sulfur amino acid metabolic process, inborn error of sulphur amino acid metabolic process, inborn sulfur amino acid metabolic process disorder, inborn sulphur amino acid metabolic process disorder, rare inborn error of sulfur amino acid metabolic process, rare inborn error of sulphur amino acid metabolic process
12 clinical trials for this condition and its sub-types, 0 tagged with Inborn disorder of methionine cycle and sulfur amino acid metabolism itself.
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Sub-types of Inborn disorder of methionine cycle and sulfur amino acid metabolism
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Homocystinuria 7 trials · 11 incl. sub-types
5 sub-types
- Classic homocystinuria 4 trials
- Hyperhomocysteinemia 3 trials
- Methylmalonic aciduria and homocystinuria 1 trial · 3 incl. sub-types Sub-types →
- Homocystinuria without methylmalonic aciduria 0 trials · 2 incl. sub-types Sub-types →
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency 1 trial
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Encephalopathy due to sulfite oxidase deficiency 0 trials · 1 incl. sub-types
2 sub-types
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency 0 trials · 1 incl. sub-types Sub-types →
- Isolated sulfite oxidase deficiency 0 trials
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Cystathioninuria 0 trials
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Disorder of methionine catabolism 0 trials
3 sub-types
Most studied deeper 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 1/2 • 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 3 • 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 Sep 18, 2026 00:00 UTC
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Scientists launch deep dive into rare metabolic disease MMA
Knowledge-focused Recruiting nowThis study aims to learn more about methylmalonic acidemia (MMA) and related disorders by observing people with these conditions over time. Researchers will track complications, perform tests like blood draws and MRIs, and look for new genetic causes. The goal is to better unders…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Sep 12, 2026 00:00 UTC
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Blood marker may reveal hidden heart risk in new hypertension patients
Knowledge-focused Recruiting nowThis study is checking whether people newly diagnosed with high blood pressure who also have high homocysteine levels are more likely to have early signs of heart stiffness. Researchers will measure homocysteine in blood and use ultrasound to look at heart function in 500 adults.…
Sponsor: Necmettin Erbakan University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:00 UTC