CLINICAL CHARACTERISTICS, HEALTHCARE RESOURCE USE AND COSTS AMONG CHILDREN WITH ANGELMAN SYNDROME: A RETROSPECTIVE CLAIMS DATABASE ANALYSIS IN THE US
Author(s)
Christy Yang, MS1, Loreina Guo, MS2, Manpreet K. Sidhu, BA, MBA, PhD1, Vamshi Rao, MD1.
1Ultragenyx Pharmaceutical Inc., Novato, CA, USA, 2NouStarX, Short Hills, NJ, USA.
1Ultragenyx Pharmaceutical Inc., Novato, CA, USA, 2NouStarX, Short Hills, NJ, USA.
OBJECTIVES: Angelman Syndrome (AS) is associated with substantial lifelong burden, severe neurodevelopmental impairment, high healthcare needs, and sizeable caregiver and economic impact. This retrospective cohort study evaluated clinical characteristics, healthcare resource use and costs in US children with AS.
METHODS: The IQVIA PharMetrics® Plus database was searched for individuals with ≥2 medical claims 30 days apart with an AS ICD 10 diagnosis code (Q93.51) within study period of 1/1/2019- 09/30/2025 and ≥12 months of continuous enrollment. Individuals were excluded if there was any evidence of clinical trial participation, pregnancy, or data quality issues. Age was defined at the first AS diagnosis. The control cohort, individuals with non-AS, were 1:10 matched on age, gender, and payer type. Clinical manifestations, disease severity, HCRU and costs were assessed during the study period.
RESULTS: Among 3,827 individuals with AS identified, 2267 (59.2%) were children; 554 (24.4%) were <4 years, 1713 (75.6%) were 4-17 years. The clinical manifestations with highest occurrence among children with AS vs non-AS were: epilepsy (83% vs 1%), seizure (63% vs 1%), developmental delay (77% vs 5%), severe speech impairment (62% vs 6%). According to their clinical manifestations, 53% of the children were considered severe. Children with AS vs non-AS had average 2.7 days of hospitalization vs 0.2, 15 office visits vs 3, 5.9 outpatient hospital visits vs 0.6, 8.3 speech therapy visits vs 0.2, 13.5 physical therapy visits vs 0.3 per year. Their average annualized direct medical cost was $30,304 (compared with $1665 non-AS), mostly driven by outpatient service (46%) and pharmacy costs (35%). Children with severe AS vs non-severe had higher costs ($40,342 vs $19,096).
CONCLUSIONS: This study demonstrated that children with AS experienced high neuro-developmental conditions and healthcare resource use compared with non-AS comparators. The direct medical cost is especially high among children with severe disease manifestations.
METHODS: The IQVIA PharMetrics® Plus database was searched for individuals with ≥2 medical claims 30 days apart with an AS ICD 10 diagnosis code (Q93.51) within study period of 1/1/2019- 09/30/2025 and ≥12 months of continuous enrollment. Individuals were excluded if there was any evidence of clinical trial participation, pregnancy, or data quality issues. Age was defined at the first AS diagnosis. The control cohort, individuals with non-AS, were 1:10 matched on age, gender, and payer type. Clinical manifestations, disease severity, HCRU and costs were assessed during the study period.
RESULTS: Among 3,827 individuals with AS identified, 2267 (59.2%) were children; 554 (24.4%) were <4 years, 1713 (75.6%) were 4-17 years. The clinical manifestations with highest occurrence among children with AS vs non-AS were: epilepsy (83% vs 1%), seizure (63% vs 1%), developmental delay (77% vs 5%), severe speech impairment (62% vs 6%). According to their clinical manifestations, 53% of the children were considered severe. Children with AS vs non-AS had average 2.7 days of hospitalization vs 0.2, 15 office visits vs 3, 5.9 outpatient hospital visits vs 0.6, 8.3 speech therapy visits vs 0.2, 13.5 physical therapy visits vs 0.3 per year. Their average annualized direct medical cost was $30,304 (compared with $1665 non-AS), mostly driven by outpatient service (46%) and pharmacy costs (35%). Children with severe AS vs non-severe had higher costs ($40,342 vs $19,096).
CONCLUSIONS: This study demonstrated that children with AS experienced high neuro-developmental conditions and healthcare resource use compared with non-AS comparators. The direct medical cost is especially high among children with severe disease manifestations.
Conference/Value in Health Info
2026-11, ISPOR Europe 2026, Vienna, Austria
Value in Health, Volume 29, Issue 12S
Code
EE107
Topic
Economic Evaluation
Topic Subcategory
Cost/Cost of Illness/Resource Use Studies
Disease
Neurological Disorders, Rare & Orphan Diseases