Sulfur metabolism disease
MONDO:0056803A disease that has its basis in the disruption of sulfur compound metabolic process.
Also known as: disorder of sulfur compound metabolic process, disorder of sulfur metabolic process, disorder of sulfur metabolism, disorder of sulphur compound metabolic process, disorder of sulphur metabolic process, disorder of sulphur metabolism, sulfur compound metabolic process disease, sulphur compound metabolic process disease
15 clinical trials for this condition and its sub-types, 0 tagged with Sulfur metabolism disease itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Sulfur metabolism disease
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Inborn disorder of methionine cycle and sulfur amino acid metabolism 0 trials · 11 incl. sub-types
6 sub-types
- Homocystinuria 7 trials · 11 incl. sub-types Sub-types →
- Encephalopathy due to sulfite oxidase deficiency 0 trials · 1 incl. sub-types Sub-types →
- Autosomal recessive extra-oral halitosis 0 trials
- Cystathioninuria 0 trials
- Disorder of methionine catabolism 0 trials Sub-types →
- Methionine adenosyltransferase deficiency 0 trials
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Biotin metabolic disease 0 trials · 3 incl. sub-types
2 sub-types
- Inborn error of biotin metabolism 0 trials · 3 incl. sub-types Sub-types →
- Nutritional biotin deficiency 0 trials
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Inherited glutathione metabolism disease 0 trials · 1 incl. sub-types
6 sub-types
- Inherited glutathione synthetase deficiency 1 trial Sub-types →
- 5-oxoprolinase deficiency 0 trials
- Gamma-glutamyl transpeptidase deficiency 0 trials
- Gamma-glutamylcysteine synthetase deficiency 0 trials
- Hemolytic anemia due to glutathione reductase deficiency 0 trials
- Spondylometaphyseal dysplasia, Sedaghatian type 0 trials
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Inherited lipoic acid biosynthesis defect 0 trials · 1 incl. sub-types
6 sub-types
- Pyruvate dehydrogenase E3 deficiency 1 trial
- Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 0 trials
- Fatal multiple mitochondrial dysfunctions syndrome 0 trials Sub-types →
- Lipoic acid synthetase deficiency 0 trials
- Lipoyl transferase 1 deficiency 0 trials
- Spasticity-ataxia-gait anomalies syndrome 0 trials
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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Scientists seek clues to fungal infections in immune system study
Knowledge-focused Recruiting nowThis study aims to understand why some people are more prone to fungal infections, especially from Candida yeast. Researchers will collect blood, saliva, urine, and tissue samples from people with immune disorders, their family members, and healthy volunteers. No treatment is giv…
Sponsor: National Institute of Allergy and Infectious Diseases (NIAID) • Aim: Knowledge-focused
Last updated Aug 26, 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
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Newborn screening study aims to decode rare enzyme disorder
Knowledge-focused Recruiting nowThis study follows 180 children in Italy born with biotinidase deficiency, a rare condition that can cause skin, eye, and nerve problems if untreated. Researchers will compare each child's genetic makeup with their enzyme activity levels and health outcomes. The goal is to better…
Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:00 UTC