CDKL5 Disorder – Rare Diseases Collaborative Network

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.

BRCH is a large Paediatric Neurology centre serving the South West of the UK and providing a number of highly specialised child neuroscience services. As part of University Hospitals Bristol NHS Foundation Trust it has close links with the University of Bristol. Bristol Child Neuroscience is a research group at the university largely comprising clinicians at BRHC.

CDKL5 Disorder

CDKL5 disorder is a rare X-linked genetic illness that typically causes early-onset severe epilepsy, which can be resistant to treatment. It is also associated with severe developmental impairment.

CDKL5 is a gene encoding a protein called cyclin-dependent kinase-like 5 that is essential for normal brain development. The protein is a kinase which is a type of enzyme that regulates other proteins.

Before genetic analysis identified this gene, patients with CDKL5 disorder were considered a subtype of Rett syndrome. Rett syndrome has some similar features but we now know is typically caused by mutations to the gene MECP2. There are a number of similarities between the disorders including early onset epilepsy, intellectual disability, and hand-wringing movements.

Most children affected by CDKL5 disorder will develop epileptic seizures in their first year of life. In about 50% of cases these seizures are in the form of infantile spasms (epileptic spasms), but will usually progress to include other seizure types.

There are currently no treatments specific to CDKL5 disorder, though seizures may be controlled using typical anti-epileptic drugs (AEDs).

Rare Disease Collaborative Networks

RDCNs have been set up by the Government recently as part of its Strategy for Rare Diseases. The vision is to lead to improved outcomes for patients with very rare diseases which have a prevalence of < 1 in 10,000 of the population.

This is only the second RDCN to have been developed, after that for refractory coeliac disease, NHS England is leading the implementation of the strategy for rare diseases and providing support for collaborative networks.

Rare Disease UK, a campaign of the charity Genetic Alliance UK, is also supporting the implementation of this strategy to improve research for rare diseases.

CDKL5 Rare Disease Collaborative Network

Dr Sam Amin


Cure CDKL5 Charity