Ultragenyx’s research on CDKL5 deficiency disorder – May 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 early, pre-clinical stage of development for UX055,…

Summary of CDKL5 research from 2020.

We would like to share with you an excellent review of the research in CDKL5 of the last 12 months written by our Trustee & Dad of Ellie Martyn Newey – www.supporting-cdkl5.co.uk. You are able to find the summary of the research in 2020 of CDKL5 Martyn Newey by using the following link  

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…

Centres of Excellence

We are delighted to be able to share news about our Centres of Excellence. Royal Bristol Children’s Hospital has been announced as the first Centre in the UK. (More info to follow from CAP) It’s our aim to have a CDKL5 Nurse Specialist at each Centre. We believe this will offer the level of care and support our…

CDKL5 variants

Improving our understanding of a rare neurological condition Update from Dr Ralph Hector I have a new paper out, published in Neurology Genetics, called “CDKL5 variants: Improving our understanding of a rare neurological condition.” This is a study of all the genetic variants we see in the CDKL5 gene, in both patients with CDKL5 deficiency…

Project Update – Dr Ralph Hector

Project Update – Dr Ralph Hector It’s been a while since my last blog on the CDKL5 UK site, so I’m going to try and make up for that with two blogs in December and one in January. This first blog will be to tell you where we got to with the work that was…

Rett Disorder UK Working Group

First Meeting of the Rett Disorders UK Working Group! On Thursday 10th March 2016, the Rett Disorders Alliance brought together the first meeting of a UK Working Group for Rett Disorders. This group comprised of UK clinicians and therapists from across the UK who have special interest and/or expertise in Rett Syndrome and related disorders.…