~ A WORLD UNITED IN HOPE
CDKL5 Deficiency Disorder
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 deficiency affects more girls than it does boys
Our families have put together some case studies based on their experiencing of raising a child/young person or adult with CDKL5 deficiency you can read more here.
Click to find out more about CDKL5 deficiency events which are organised by our CDKL5 Alliance members and other organisations within the community.
Cooperation: Provide an environment for communication and collaboration between CDKL5-related patient advocacy groups (PAGs) around the world, helping newer groups grow, helping parents in countries without a PAG to create one, and helping all groups be more effective.
Research and care: Encourage and aid researchers, pharmaceutical companies, and clinicians in their efforts to treat CDKL5 Deficiency by communicating about research plans, fostering the creation of Centers of Excellence, helping pharmaceutical companies find potential trial participants around the world, and serving as a collective voice of families living with CDKL5 Deficiency.
Awareness: Create awareness of CDKL5 Deficiency by helping member PAGs identify patients in their countries, develop better methods of fundraising, and generate publicity for this disorder.
Our CDKL5 Alliance members from all over the world. United in one goal to support families living with CDKL5 deficiency. Some are also funding for research and providing clinical support, but those are aren’t have regular family meetings to share knowledge, come together and provide a platform for families with link with clinical and scientific professionals.
What is CDKL5
The CDKL5 gene provides instructions for making a protein that is essential for normal brain development. Although little is known about the protein’s function, it may play a role in regulating the activity of other genes, including the MECP2 gene (or Rett Syndrome). The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding oxygen and phosphate atoms (a phosphate group) at specific positions. Researchers have not fully determined which proteins are targeted by the CDKL5 protein.
CDKL5 Alliance Board 2023
CDKL5 UK & Netherlands
Katheryn Elibri Frame
CDKL5 Research Collaborative