Glutathione synthetase deficiency with 5-oxoprolinuria
MONDO:0009947Also known as: 5-oxoprolinuria, GSSD, glutathione synthetase deficiency, pyroglutamic aciduria
3 clinical trials for this condition and its sub-types, 1 tagged with Glutathione synthetase deficiency with 5-oxoprolinuria itself.
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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 seek genetic clues to mysterious immune defects
Knowledge-focused Recruiting nowThis study looks at people with unusual or repeated infections and their family members to find the genetic and biochemical causes of immune system problems. Researchers will collect blood, saliva, urine, and other samples over time to better understand these conditions. The goal…
Sponsor: National Institute of Allergy and Infectious Diseases (NIAID) • Aim: Knowledge-focused
Last updated Aug 20, 2026 00:00 UTC