Classic galactosemia
MONDO:0009258Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.
Also known as: GALT deficiency, classic galactosemia, galactose-1-phosphate uridyltransferase deficiency, galactosemia type 1, classical galactosemia, homozygous duarte-type, Galt deficiency, galactose-1-phosphate uridylyltransferase deficiency, galactosemia
7 clinical trials for this condition and its sub-types.
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Fertility boost? study tests estradiol and guaifenesin alongside clomiphene
Disease control CompletedThis study looked at whether adding vaginal estradiol or oral guaifenesin to standard fertility treatment (clomiphene citrate) could improve pregnancy rates. 90 women with infertility were randomly assigned to one of three groups. The goal was to see if these add-ons helped with …
Phase: NA • Sponsor: Yuzuncu Yil University • Aim: Disease control
Last updated Jun 27, 2026 09:03 UTC
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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: PHASE2, PHASE3 • 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…
Phase: EARLY_PHASE1 • Sponsor: Arizona State University • Aim: Prevention
Last updated Jun 27, 2026 08:13 UTC
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Can a simple uterine flush boost IVF pregnancy rates?
Knowledge-focused CompletedThis study looked at whether flushing the uterus with a low dose of the hormone hCG right after egg retrieval could improve pregnancy rates in women undergoing IVF. Researchers measured immune markers and blood flow in the uterus to see if the flush made the womb more receptive t…
Phase: PHASE4 • Sponsor: Omayma Ismail Khalaf • Aim: Knowledge-focused
Last updated Jun 26, 2026 18:57 UTC