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Penn Study Suggests Genetic Disease CDKL5 Deficiency Disorder Could Be Treatable after Childhood

Penn Study Suggests Genetic Disease CDKL5 Deficiency Disorder Could Be Treatable after Childhood Researchers find that restoring CDKL5 gene activity reverses many disease signs in young adult mice October 15, 2021   PHILADELPHIA— A devastating genetic disease called CDKL5 deficiency disorder (CDD), which strikes in early childhood, may be significantly treatable even in adulthood, a new…

Marinus Pharmaceuticals Announces Exclusive Collaboration with Orion Corporation for European Commercialization of Ganaxolone

Marinus Pharmaceuticals Announces Exclusive Collaboration with Orion Corporation for European Commercialization of Ganaxolone We are excited to share that today Marinus Pharmaceuticals announced it signed an exclusive European market collaboration with Finland-based pharmaceutical company Orion Corporation. Marinus has received a $30 million upfront payment and is expected to receive around $115 million in R&D reimbursement and commercialization milestone payments for its compound…

Ultragenyx update, May 2021

Ultragenyx update, May 2021 May 26, 2021 Dear Families Living with CDKL5 Deficiency Disorder, While some of you may already know our company from previous presentations at scientific meetings, we are now pleased to provide your community with a more formal communication regarding Ultragenyx’s research on CDKL5 deficiency disorder (CDD). Ultragenyx is currently in the…

Twenty “must-read” publications from 2020

#1 to #3:  Gene therapy and X reactivation: Gene replacement ameliorates deficits in mouse and human models of cyclin-dependent kinase-like 5 disorder. Gao Y et al., Brain Proof-of-concept for a gene replacement approach to CDKL5 deficiency disorder. Benke TA and Kind PC, Brain First published proof of concept for AAV-mediated gene therapy for the treatment…