CKDL5 Deficiency Disorder: Caregiver’s Perception of Clinical Symptoms Disease Management and Its Impact on Quality-of-life
Author(s)
Emilie Pain, MSc1, Valentine Ficara, MSc2, Cynthia Lesbros3.
1Carenity, Paris, France, 2ElseCare / Carenity, Paris, France, 3Paris, France.
1Carenity, Paris, France, 2ElseCare / Carenity, Paris, France, 3Paris, France.
OBJECTIVES: Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is an ultra-rare genetic condition marked by developmental epileptic encephalopathy causing early-onset seizures, severe motor and cognitive impairments. As no disease-modifying treatments exist, this study aimed to assess the burden of CDD from the perspective of caregivers.
METHODS: An international cross-sectional study was conducted via a web-based survey through Carenity, an online patient community. It included 40 questions covering demographics, disease characteristics, burden, unmet needs, treatment, and support. EQ-5D-5L standardized instrument was adapted to assess patients’ health-related quality of life (HRQoL) as perceived by caregivers (EQ-5D-5L Proxy version1). Descriptive analysis was performed on responses from 132 caregivers.
RESULTS: Most participants were from Europe (80%), mainly France, Spain, Germany, and the UK. Patients cared for were mostly female (4:1 ratio), with a median age of 7.6 years. Seizures began early in age (median: 2 months), and diagnosis occurred at 1.2 years. The most frequent symptoms were epilepsy (93%) and limited communication (84%). While multidisciplinary care was common early on, access declined after transition to adulthood. Europeans declared a diagnosis delay of 11 months while this delay was 26.5 months in non-European countries, where financial hardship and difficulty accessing care were also reported. HRQoL was reported as very poor (median EQ-5D-5L index: 0.18). Most parents reported extreme problems or inability for their child for self-care (91%), daily activities (78%), and mobility (67%). Caregivers experienced major impacts, particularly on professional life and finances. Caregivers prioritized improved cognition, fewer seizures, and reduced treatment side effects for future treatments. Unmet needs included daily care support, better access to specialists, financial assistance, and psychological support.
CONCLUSIONS: This study highlights the high burden of CDD on both patients and caregivers using the EQ5D-5L Proxy1 for the first time, regional disparities in diagnosis and care, the need for better support systems and effective treatments.
METHODS: An international cross-sectional study was conducted via a web-based survey through Carenity, an online patient community. It included 40 questions covering demographics, disease characteristics, burden, unmet needs, treatment, and support. EQ-5D-5L standardized instrument was adapted to assess patients’ health-related quality of life (HRQoL) as perceived by caregivers (EQ-5D-5L Proxy version1). Descriptive analysis was performed on responses from 132 caregivers.
RESULTS: Most participants were from Europe (80%), mainly France, Spain, Germany, and the UK. Patients cared for were mostly female (4:1 ratio), with a median age of 7.6 years. Seizures began early in age (median: 2 months), and diagnosis occurred at 1.2 years. The most frequent symptoms were epilepsy (93%) and limited communication (84%). While multidisciplinary care was common early on, access declined after transition to adulthood. Europeans declared a diagnosis delay of 11 months while this delay was 26.5 months in non-European countries, where financial hardship and difficulty accessing care were also reported. HRQoL was reported as very poor (median EQ-5D-5L index: 0.18). Most parents reported extreme problems or inability for their child for self-care (91%), daily activities (78%), and mobility (67%). Caregivers experienced major impacts, particularly on professional life and finances. Caregivers prioritized improved cognition, fewer seizures, and reduced treatment side effects for future treatments. Unmet needs included daily care support, better access to specialists, financial assistance, and psychological support.
CONCLUSIONS: This study highlights the high burden of CDD on both patients and caregivers using the EQ5D-5L Proxy1 for the first time, regional disparities in diagnosis and care, the need for better support systems and effective treatments.
Conference/Value in Health Info
2025-11, ISPOR Europe 2025, Glasgow, Scotland
Value in Health, Volume 28, Issue S2
Code
PCR44
Topic
Patient-Centered Research, Study Approaches
Topic Subcategory
Instrument Development, Validation, & Translation, Patient-reported Outcomes & Quality of Life Outcomes
Disease
Neurological Disorders, Rare & Orphan Diseases