Prevalence, Treatment Patterns, and Healthcare Resource Utilization Among Patients with CDKL5 Deficiency Disorder: Retrospective Analysis of US Claims Data
Sam Amin1, Orrin Devinsky2, Xiaoyu Dong3, Jaya Khushalani4, Patrick Ohagen4, Melinda Martin4, Rajsekar Rajaraman5, Scott Demarest6
1University Hospitals Bristol and Weston, 2NYU Epilepsy Center, 3USC, 4UCB, 5UCLA Mattel Children’s Hospital, 6Children’s Hospital Colorado, Anschutz Medical Campus
Objective:
To determine prevalence, treatment patterns, and healthcare resource utilization (HCRU) in patients with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) using US claims data.
Background:
CDD, an ultra-rare developmental epileptic encephalopathy caused by pathogenic variants in the CDKL5 gene, is characterized by early-onset, antiseizure medication (ASM)-resistant seizures and significant developmental delays. ICD-10 coding was assigned in November 2019 (G40.42).
Design/Methods:
This retrospective study included patients with ≥2 CDD claims ≥1 month apart from 01/01/2020–12/31/2024 in the US Komodo Healthcare database. Outcomes were annual CDD prevalence, clinical characteristics, treatment patterns, and HCRU burden. Descriptive analyses were used to summarize data. HCRU burden was compared between CDD and matched non-CDD epilepsy cohorts in the 6 months post diagnosis.
Results:
Overall, 584 patients met the eligibility criteria. Mean age was 19.1 years (95% CI, 17.2, 21.1); 71.1% were female. In 2024, CDD prevalence was 3.3/million, was highest in females <18 years old (17.3/million), and accounted for 0.03% of all epilepsy diagnoses. Most common prior diagnoses before CDD diagnosis were infantile spasms (32%), Rett syndrome (30%), cerebral palsy (29%), and Lennox-Gastaut syndrome (25%). Gastrointestinal issues (84%), respiratory issues (81%), and developmental delay (78%) were the most common comorbidities. Levetiracetam (34%), clobazam (33%), and clonazepam (30%) were the most common seizure-related drugs utilized. Increase in uptake post diagnosis was seen for ganaxolone (23%), fenfluramine (5%), and cenobamate (4%). HCRU analysis comparing CDD (n=569) and non-CDD epilepsy (n=1136) cohorts showed significantly more burden among patients with CDD for seizure-related HCRU claims, status epilepticus claims, concomitant ASMs, and rescue medication claims (P<0.05 for each).
Conclusions:
This real-world retrospective analysis reports prevalence for patients with CDD for the first time in a large, claims-based population. Comorbidities and HCRU burden are significant for patients with CDD.
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