CONGENITAL DISORDERS OF GLYCOSYLATION
Clinical trials for CONGENITAL DISORDERS OF GLYCOSYLATION explained in plain language.
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New metabolomic test could spot rare metabolic diseases faster
Diagnosis CompletedThis study tested a new method called global metabolomic profiling to diagnose inborn errors of metabolism, a group of rare genetic disorders. Researchers compared this approach to traditional testing in 240 participants. The goal was to see if the new method could more accuratel…
Matched conditions: CONGENITAL DISORDERS OF GLYCOSYLATION
Sponsor: Mayo Clinic • Aim: Diagnosis
Last updated Jun 27, 2026 07:53 UTC
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Tiny study probes why CDG patients have Stroke-Like events
Knowledge-focused CompletedThis study looked at how the cells lining blood vessels (endothelial cells) might be involved in stroke-like episodes in people with Congenital Disorders of Glycosylation (CDG). Researchers took blood samples from 6 CDG patients and grew their endothelial cells in the lab to test…
Matched conditions: CONGENITAL DISORDERS OF GLYCOSYLATION
Phase: NA • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:04 UTC
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Rare disease clotting mystery probed in 57 patients
Knowledge-focused CompletedThis study examined blood clotting in 57 people with Congenital Disorder of Glycosylation (CDG), a rare genetic condition. Researchers used a special test called the thrombin generation assay to see if the body's clotting system stays balanced despite having low levels of both cl…
Matched conditions: CONGENITAL DISORDERS OF GLYCOSYLATION
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:10 UTC