Understanding the full impact of CDKL5 deficiency disorder

CDKL5 deficiency disorder (CDD) is a rare and severe developmental and epileptic encephalopathy (DEE), affecting around 1 in 40,000 to 60,000 live births. Onset of the disease typically begins in infancy, usually during the first three months of life, and persists into adulthood.
 

CDD and seizures

From infancy, children with CDD experience frequent, drug-resistant seizures that are profoundly debilitating. For many, these seizures are relentlessly drug resistant, requiring multiple anti-seizure drugs, which may only have a short and temporary period of effectiveness. And despite available medications, seizures continue to occur each day in most patients.

CDD patients have a mixture of seizure types, and the types typically vary throughout their lifetime. At time of onset, common seizure types include epileptic spasms (brief jerking, often in clusters) or tonic seizures (sudden muscle stiffening). Over time, both new focal and generalized seizure types emerge, while some types may remit.
 

CDD is more than seizures

Unfortunately, CDD is about more than seizures. It brings with it a complex range of neurodevelopmental delays, impacting cognition, motor abilities, speech, sleep, and even gastrointestinal and visual function.

For many patients and families, milestones like walking or saying a first word may remain out of reach. 

Gastrointestinal issues are common and can lead to patients having a gastronomy tube, while sleep disturbances, musculoskeletal complications like scoliosis, and poor vision can add yet another layer of complexity to daily life and communication. 
 

The impact CDD has on families

Parents become full-time advocates, caregivers and therapists. The resulting emotional toll is heavy, with caregivers often putting their own lives on hold, leaving career opportunities and their social circles behind to focus on the intensive, round-the-clock care their child requires.

Many parents describe a sense of isolation and disappointment that there is no specific treatment for CDD. Nearly half of people living with CDD are estimated to be on three or more anti-seizure medications*, yet most still do not achieve seizure control.

Furthermore, because the condition is so rare and complex, diagnosis is often delayed. In turn, this means access to specialized syndrome-specific care or support networks is also late, amplifying the emotional and practical burden on families.
 

Looking to the future  

At the American Epilepsy Society Congress this year, we presented positive phase 3 data in CDD. Families continually inspire us with their extraordinary resilience. These champions motivate us every day to push the boundaries of scientific discovery and seek new ways to address the significant unmet needs in CDD.

Together, let’s keep raising awareness of CDD and advancing solutions, ensuring that nobody faces their journey alone and creating a brighter future for families and patients affected by CDD.

*Statistic taken from International CDKL5 Disorder database which includes over 300 families from over 30 different countries.