Latest News
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RADNOR, Pa. – Marinus Pharmaceuticals, Inc. (Nasdaq: MRNS), a pharmaceutical company dedicated to the development of innovative therapeutics to treat seizure disorders, today announced that due to the impact of the COVID-19 Omicron variant on hospital resources and an unexpected interruption of clinical supply material associated with IV ganaxolone, the... -
A federal appeals court in the U.S. has issued a mandate that effectively vacates the 2019 regulatory approval of Jacobus Pharmaceutical’s Ruzurgi for the treatment of children with Lambert-Eaton myasthenic syndrome (LEMS). The ruling, by the U.S. Court of Appeals for the 11th Circuit, directs a lower district court to...
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LEXINGTON – LogicBio Therapeutics, Inc. (Nasdaq: LOGC), a clinical-stage genetic medicine company, today provided an update on the LB-001 clinical development program. The U.S. Food and Drug Administration (FDA) has notified the company that its Phase 1/2 SUNRISE clinical trial of LB-001 in pediatric patients with methylmalonic acidemia (MMA) has...
Videos
Rare disease spotlight
Results from #CACNA1A #naturalhistory study.
Great work by @WendyKChung and others as we need such studies in order to repare for future #clinicaltrial.
#genetics #epilepsy
@CheckOrphan
@RareEpilepsy @IlaeWeb @Epilepsy_Center https://twitter.com/cacna1a/status/1540671056696020992
@WendyKChung published the first set of data from our #CACNA1A Natural History Study. Severity score was significantly higher for predicted GoF variants, variants in the S5/S6 helices. https://onlinelibrary.wiley.com/doi/10.1111/cge.14180
Great article highlighting benefits of universal #NewbornScreening
“I urge other states & territories to screen newborns for both these genetic disorders as we are in NSW to give babies with SMA or SCID the best chance of survival”
Health Min Brad Hazzard
https://www.smh.com.au/national/nsw/life-saving-tests-for-newborns-after-sydney-study-makes-fatal-condition-treatable-20220624-p5awbr.html
#PrecisionMedicine should exist for all epilepsies, rare & common. Better treatments and diagnostics. One step at a time📈 to benefit our patients. Latest improvement #FIRES syndrome #epilepsy #precisioncare #precisiondiagnostics.
@TorieRobinson10 @CheckOrphan @Epilepsy_Center https://twitter.com/AledoNeuro/status/1540637714277695488
Our new work is out‼️
#FIRES is a devastating #epilepsy syndrome without evidence for effective drugs during chronic phase👇
In this case-series we show how anti-IL (#anakinra/#tocilizumab) might be useful several years after acute FIRES
➡️ https://authors.elsevier.com/a/1fIkO3mqOkJ2Ox
🧶thread👇 https://twitter.com/allanbayat/status/1540434409240797187