The voice for the CDKL5 community in the UK

CDKL5 UK is a charity run by parents caring for a child with CDKL5 deficiency disorder. We fully understand the challenges faced and recognise that it can feel isolating looking after a child with a disability, but you are not alone.

At CDKL5 UK our aim is to provide support for families and carers, whether that’s through sharing information about the condition, organising family days to supporting participation in the latest clinical trials.

We share the same goal, to help our children live life to the full.

CDKL5 deficiency is a rare X-linked genetic condition which results in early onset, difficult to control, seizures and severe neuro-developmental impairment. Due to the location on the X chromosome CDKL5 affects more girls than boys.

This ultra-rare disease was first identified in 2004 and there are now over 13,000 family affected. As awareness of the condition grows this number is increasing and currently there are 750 new cases registered every year.

Our aim

There have been many breakthroughs in our understanding of the disease but there is still much more we need to know and it’s our aim is to raise money to support the global research effort.

We also want to educate the public and professional communities about CDKL5 and be the voice for our children. We want to challenge assumptions about people with disabilities and help our children and young adults fulfill their potential.

Money raised by CDKL5 UK will be put towards funding our key aims which are to promote relief, care and services to promote health, for persons suffering from and affected by CDKL5, in particular by:

  • Funding research worldwide for treating the symptoms, including epilepsy, and research into the genetic cause of CDKL5 and disseminating or publishing the useful results of such research for the benefit of the public.
  • Supporting participation into clinical trials relevant to treating the symptoms of, or development of a cure for, CDKL5, or participation in clinical trials for similar Rett-Like disorders and Rett Syndrome.
  • Raising public awareness of CDKL5 and promoting a greater understanding of the condition within the general public and the medical and social professions.