Galactosemia
MONDO:0018116Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form.
Also known as: galactosemia
5 clinical trials for this condition and its sub-types.
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Broader categories
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New hope for kids with rare sugar disorder: drug shows promise in trial
Disease control CompletedThis study tested an experimental drug called AT-007 in 47 children aged 2 to 18 with Classic Galactosemia, a rare genetic disorder that makes it hard to break down a sugar called galactose. The goal was to see if the drug could improve behavior, daily living skills, and language…
Phase 2/3 • Sponsor: Applied Therapeutics, Inc. • Aim: Disease control
Last updated Jun 27, 2026 07:55 UTC
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Babble boot camp: could early talk therapy stop speech delays in rare disease?
Prevention CompletedThis study tested a program called Babble Boot Camp for babies with classic galactosemia, a rare condition that often causes speech and language problems. The program started when babies were 2 to 24 months old and involved weekly online coaching for parents from a speech therapi…
Early phase 1 • Sponsor: Arizona State University • Aim: Prevention
Last updated Jun 27, 2026 08:13 UTC