Bristol Leading CDKL5 Rare Diseases Collaborative Network
We are pleased to report that Bristol Royal Children’s Hospital has been commissioned by NHS England as the lead for the CDKL5 Rare Diseases Collaborative Network (RDCN). This is only the second designated RDCN and aims to support development of clinical services and research into this rare disorder.
Dr Sam Amin is the lead for the CDKL5 RDCN, based at Bristol Royal Children’s Hospital. He works closely as an advocate for families affected by the disorder with the CDKL5 UK charity and is developing clinical research in the area.
CDKL5 disorder is a rare X-linked genetic illness that typically causes early-onset severe epilepsy, which can be resistant to treatment, and is associated with severe developmental impairment.
RDCNs have been set up by the Government recently as part of its Strategy for Rare Diseases with a vision to lead to improved outcomes for patients with very rare diseases which have a prevalence of < 1 in 10,000 of the population.