CDKL5-deficiency disorder

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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 June 2024

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CDKL5-deficiency disorder?

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Advocacy Organizations

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.

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.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.