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Perrault syndrome 1
MONDO:0009300Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene.
Also known as: HSD17B4 Perrault syndrome, Perrault syndrome 1, Perrault syndrome caused by mutation in HSD17B4, Perrault syndrome type 1, PRLTS1, gonadal dysgenesis, 20 type, with deafness, ovarian dysgenesis with sensorineural deafness
18 clinical trials for this condition and its sub-types, 0 tagged with Perrault syndrome 1 itself.
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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 …
Sponsor: Yuzuncu Yil University • Aim: Disease control
Last updated Jun 27, 2026 09:03 UTC
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New drug shows promise for rare energy disorder
Disease control CompletedThis study tested a new drug called OMT-28 in 28 people with primary mitochondrial disease, a condition that affects how cells produce energy. Participants took the drug once daily for 6 months, and researchers measured safety, blood markers of inflammation, and symptoms like fat…
Phase 2 • Sponsor: Omeicos Therapeutics GmbH • Aim: Disease control
Last updated Jun 27, 2026 08:13 UTC
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Long-Term safety of mitochondrial drug confirmed in 101 patients
Disease control CompletedThis study looked at the safety of vatiquinone in 101 people with inherited mitochondrial disease who had already taken the drug in a previous study or treatment plan. The goal was to track any side effects until the drug became commercially available or the program ended. Partic…
Phase 3 • Sponsor: PTC Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 08:05 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 4 • Sponsor: Omayma Ismail Khalaf • Aim: Knowledge-focused
Last updated Jun 26, 2026 18:57 UTC