CDKL5-deficiency disorder
Synonyms: CDD
A rare genetic neurodevelopmental disorder characterized by early-onset drug-resistant seizures and severe neurodevelopmental impairment with major motor development delay.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
CDKL5-deficiency disorder?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
CDKL5 Alliance – CDKL5 Turkey
Accessible treatment options for CDKL5 worldwide
CDKL5 Research Collaborative
to fund clinical and therapeutic research and raise awareness of CDKL5 disorder, while developing treatments and standards of care to improve the lives of those living with CDKL5.
CDKL5 SOUTH ASIA
TO FIND A CURE THAT IS ACCESSIBLE BY ALL FOR CDKL5
CDKL5 UK
To support patients and family through patient advocacy and peer support
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Genetic Epilepsy Team Australia
Collaboration of research and care
Hope4Harper
Treatment Options for CDKL5 that Work (TOCW)
International Foundation for CDKL5 Research
To treat and cure CDKL5 Deficiency Disorder by funding scientific research, while helping affected individuals and their families to thrive.
MAST Genes Research Foundation
Connecting families and fueling research into microtubule-associated serine/threonine kinase (MAST) genetic mutations to improve the quality of life and develop therapies to support affected patients and families.
Moonshots for Unicorns
Curing single-gene disorders
Orphan Disease Center
The Penn Medicine Orphan Disease Center (ODC) will host the 11th Annual Million Dollar Bike Ride on Saturday, June 8, 2024 to raise money for rare disease research. In ten years, the MDBR’s 30+ teams have raised over $20 million to fund research grants on the diseases they represent. The ODC ensures that 100% of the funds received goes towards these pilot grants.
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
SCN2A Foundation
The SCN2A Foundation is a global initiative dedicated towards accelerating research and treatment for SCN2A. We plan to achieve this by building collaborative networks among the global research community, organizing resources, and strategically investing in highly focused research directed towards therapeutic development.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.