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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New drug aims to tame hard-to-control seizures in rare mitochondrial disorders
Disease control Stopped earlyThis study tested a drug called vatiquinone in 68 people with mitochondrial disease and epilepsy that doesn't respond to standard treatments. Participants were randomly assigned to receive either vatiquinone or a placebo for 24 weeks to see if the drug could reduce the number of …
Phase 2/3 • Sponsor: PTC Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 12:03 UTC
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Can sex boost the odds of IVF success?
Knowledge-focused Stopped earlyThis trial asks whether having sexual intercourse in the 72 hours after a frozen embryo transfer changes the likelihood of a clinical pregnancy. Researchers will compare pregnancy rates, miscarriage rates, and live birth rates between women who have sex and those who do not. The …
Sponsor: Fundación Santiago Dexeus Font • Aim: Knowledge-focused
Last updated Sep 10, 2026 00:00 UTC