AICA-ribosiduria
MONDO:0012099AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.
Also known as: 5-amino-4-imidazole carboxamide ribosiduria, AICA-ribosiduria due to ATIC deficiency, ATIC deficiency, AICAR transformylase/IMP cyclohydrolase deficiency, Aica-Ribosuria due to Atic deficiency, Atic deficiency
63 clinical trials for this condition and its sub-types.
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VR headsets tested as a possible treatment for blindness
Disease control TerminatedThis study tested whether using a virtual reality headset for one-hour sessions could help regenerate damaged optic nerves and improve vision in people with glaucoma or other retinal diseases. The idea came from promising results in rodents. However, the trial was terminated earl…
Phase: NA • Sponsor: Stanford University • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC
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Scientists dig into DNA to unravel rare eye disorders
Knowledge-focused TerminatedThis study looked at over 100 people with inherited retinal dystrophies, a group of rare eye diseases that can cause vision loss. Researchers collected genetic and eye exam data to find links between specific gene mutations and symptoms. The goal was to better understand these di…
Sponsor: Fondation Ophtalmologique Adolphe de Rothschild • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:03 UTC