Abstract Details

Title Prevalence, Treatment Patterns, and Healthcare Resource Utilization Among Patients with CDKL5 Deficiency Disorder: Retrospective Analysis of US Claims Data

Topic Epilepsy/Clinical Neurophysiology (EEG)

Presentation(s) P1 - Poster Session 1 (8:00 AM-9:00 AM)

Poster/Presentation
Number 11-008

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.

Authors/Disclosures
Sam Amin PRESENTER	Sam Amin has nothing to disclose.
Orrin Devinsky, MD, FAAN (NYU Epilepsy Center)	Dr. Devinsky has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Eisai. Dr. Devinsky has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for California Cannabis Enterprises. Dr. Devinsky has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Engage. Dr. Devinsky has received personal compensation in the range of $50,000-$99,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Privateer Holdings. Dr. Devinsky has received personal compensation in the range of $1,000,000+ for serving on a Scientific Advisory or Data Safety Monitoring board for Receptor Holdings. Dr. Devinsky has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Rettco. Dr. Devinsky has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Silver Spike. Dr. Devinsky has received personal compensation in the range of $100,000-$499,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Tevard. Dr. Devinsky has received personal compensation in the range of $1,000,000+ for serving on a Scientific Advisory or Data Safety Monitoring board for Tilray. Dr. Devinsky has received personal compensation in the range of $100,000-$499,999 for serving as an officer or member of the Board of Directors for Engage. Dr. Devinsky has received personal compensation in the range of $50,000-$99,999 for serving as an officer or member of the Board of Directors for Tevard Biosciences. Dr. Devinsky has stock in Engage. Dr. Devinsky has stock in Empatica. Dr. Devinsky has stock in California Cannabis Enterprises. Dr. Devinsky has stock in Empatica. Dr. Devinsky has stock in Silver Spike. Dr. Devinsky has stock in Docklight Brands. Dr. Devinsky has stock in Egg Rock/Papa Barkley. Dr. Devinsky has stock in Leafly. Dr. Devinsky has stock in Left Coast Ventures. Dr. Devinsky has stock in Privateer Holdings. Dr. Devinsky has stock in Receptor Holdings. Dr. Devinsky has stock in Qstate. The institution of Dr. Devinsky has received research support from GW Pharma. The institution of Dr. Devinsky has received research support from Zogenix. The institution of Dr. Devinsky has received research support from PTC Pharma. The institution of Dr. Devinsky has received research support from NIH. The institution of Dr. Devinsky has received research support from DOD. The institution of Dr. Devinsky has received research support from NIH. The institution of Dr. Devinsky has received research support from Epilepsy Foundation. The institution of Dr. Devinsky has received research support from NIH. The institution of Dr. Devinsky has received research support from NIH. The institution of Dr. Devinsky has received research support from NSF. Dr. Devinsky has received intellectual property interests from a discovery or technology relating to health care. Dr. Devinsky has received intellectual property interests from a discovery or technology relating to health care. Dr. Devinsky has received publishing royalties from a publication relating to health care.
Yanan Dong, MS	Ms. Dong has received personal compensation for serving as an employee of AbbVie. Ms. Dong has stock in AbbVie.
Jaya S. Khushalani, MD, PhD	Dr. Khushalani has received personal compensation for serving as an employee of UCB. Dr. Khushalani has or had stock in UCB.
Patrik Öhagen, Statistician	Mr. Öhagen has nothing to disclose.
Melinda S. Martin, PhD	Dr. Martin has received personal compensation for serving as an employee of UCB. Dr. Martin has received stock or an ownership interest from UCB.
Rajsekar R. Rajaraman, MD (UCLA Medical Center)	Dr. Rajaraman has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Marinus Pharmacueticals.
Scott T. Demarest, MD (University of Colorado Health Science Center, Child Neurology)	The institution of Dr. Demarest has received personal compensation in the range of $500-$4,999 for serving as a Consultant for UCB. The institution of Dr. Demarest has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Capsida. The institution of Dr. Demarest has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Lundbeck. The institution of Dr. Demarest has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Mahzi. The institution of Dr. Demarest has received personal compensation in the range of $500-$4,999 for serving as a Consultant for neurocrine. The institution of Dr. Demarest has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Praxis. The institution of Dr. Demarest has received research support from NIH. Dr. Demarest has a non-compensated relationship as a SMAB with SLC6A1 Connect that is relevant to AAN interests or activities. Dr. Demarest has a non-compensated relationship as a SMAB with Ring 14 USA that is relevant to AAN interests or activities. Dr. Demarest has a non-compensated relationship as a SMAB with FamilieSCN2A that is relevant to AAN interests or activities.

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