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Genetic and Congenital

CDKL5 Deficiency Disorder Granted WHO Disease Classification

Posted on February 29, 2020

CDKL5 Deficiency Disorder (CDD), a rare genetic disease that leads to frequent seizures shortly after birth and severe impairment in neurological development, has been granted World Health Organization disease classification. The new ICD diagnostic code (G40.42), will be incorporated in the October 1, 2020 classification revision.

Without classification, diseases are often overlooked when it comes to clinical research and navigating insurance and reimbursement can be difficult.

“Obtaining an ICD-10 code for CDD is a big milestone for our field and one more step towards having approved therapies and ensuring patient access to these treatments. One of the reasons why we requested a code for CDD is because there are four ongoing clinical trials for therapies that might treat the disease, including a clinical study in the latest stage before approval. With an ICD-10 code for CDD, everything from research to reimbursement will become more efficient,” said Ana Mingorance PhD, Chief Development Officer, Loulou Foundation, in a press release. The LouLou Foundation is a private non-profit foundation for CDD therapeutic development which spearheaded the ICD-10 code effort.

To read the full press release, click here.

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