Dear families, You may already be aware from the last webinar, or from the most recent newsletter, that the CDKL5 Centre of Excellence would like to create a patient database for patients of CDKL5 Deficiency Disorder in the UK. The purpose of this database is to gather data on incidences of CDKL5 Deficiency Disorder in…
New video technology service via vCreate! CDKL5 UK is delighted to share with you that due to a grant from Orion Pharma, we have been able to purchase a secure video technology service via vCreate. This is an online platform and will be used in the CDKL5 Centre of Excellence in Bristol Children’s Hospital to…
Temporal manipulation of Cdkl5 reveals essential postdevelopmental functions and reversible CDKL5 deficiency disorder–related deficits CDKL5 deficiency disorder (CDD) is an early onset, neurodevelopmental syndrome associated with pathogenic variants in the X-linked gene encoding cyclin-dependent kinase-like 5 (CDKL5). CDKL5 has been implicated in neuronal synapse maturation, yet its postdevelopmental necessity and the reversibility of CDD-associated impairments…
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 Launches Expanded Access Program for Ganaxolone Treatment in CDKL5 Deficiency Disorder RADNOR, Pa.–(BUSINESS WIRE)– Marinus Pharmaceuticals, Inc. (Nasdaq: MRNS), a pharmaceutical company dedicated to the development of innovative therapeutics to treat rare seizure disorders, today announced the launch of an expanded access program (EAP) that will allow the company to offer ganaxolone to patients…
In December our lab in Glasgow played host to a visit from some intrepid members of the CDKL5 UK team looking to brave a Scottish winter. In truth it was quite a mild day and our University buildings were looking quite grand with their Christmas lights on. For everyone visiting it was their first…
