Epidemiology and patient journey of Rett syndrome in the United States: a real-world evidence study
Abstract Background Rett syndrome (RTT) is a neurodevelopmental disorder that almost exclusively affects females and is associated with high clinical burden. However, literature characterizing the real-world journey of patients with RTT is limited. This study provided an overview of the epidemiology...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-04-01
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| Series: | BMC Neurology |
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| Online Access: | https://doi.org/10.1186/s12883-023-03181-y |
| _version_ | 1797849945924960256 |
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| author | Damian May Kalé Kponee-Shovein Malena Mahendran Nathaniel Downes Kristy Sheng Patrick Lefebvre Wendy Y. Cheng |
| author_facet | Damian May Kalé Kponee-Shovein Malena Mahendran Nathaniel Downes Kristy Sheng Patrick Lefebvre Wendy Y. Cheng |
| author_sort | Damian May |
| collection | DOAJ |
| description | Abstract Background Rett syndrome (RTT) is a neurodevelopmental disorder that almost exclusively affects females and is associated with high clinical burden. However, literature characterizing the real-world journey of patients with RTT is limited. This study provided an overview of the epidemiology, patient characteristics, clinical manifestations, healthcare resource utilization (HRU), costs, and treatment patterns of patients with RTT in the US. Methods IQVIA™ Medical Claims Data and Longitudinal Prescription Data (11/01/2016–10/31/2019) were used to identify female patients with RTT, with the first observed diagnosis defined as the index date. Annual incidence and prevalence of RTT were assessed over the entire study period; clinical manifestations, all-cause and RTT-related HRU and costs, and treatment patterns were evaluated during the observation period—from the index date to end of clinical activity or end of data availability, whichever occurred first. Results were further stratified into pediatric (< 18 years) and adult (≥ 18 years) subgroups. Results In 2019, prevalence and incidence of RTT was 0.32 and 0.23 per 10,000 enrollees, respectively. Among 5,940 female patients (pediatric: 3,078; adult: 2,862) with mean observation period of 2.04 years, the most prevalent clinical manifestations were neurological disorders (72.8%), gastrointestinal/nutritional disorders (41.9%), and orthopedic disorders (34.6%). The incidence rate of all-cause HRU was 44.43 visits per-patient-per-year and RTT-related HRU comprised 47% of all-cause HRU. Mean all-cause healthcare costs were $40,326 per-patient-per-year, with medical costs driven by home/hospice care visits, therapeutic services, outpatient visits, and inpatient visits. RTT-related healthcare costs comprised 45% of all-cause healthcare costs. The most prevalent supportive therapy and pharmacologic agent were feeding assistance (37.9%) and antiepileptic drugs (54.8%), respectively. Trends were similar by subgroup; although, rates of HRU were generally higher among pediatric patients relative to adult patients (all-cause: 52.43 and 35.86, respectively), which translated into higher mean healthcare costs (all-cause: $45,718 and $34,548, respectively). Conclusions Patients with RTT have substantial disease burden, including prevalent clinical manifestations, high rates of HRU and annual healthcare costs, and reliance on pharmacologic and supportive therapies. These findings underscore the unmet need for effective therapies to target the multifactorial manifestations of RTT. |
| first_indexed | 2024-04-09T18:53:29Z |
| format | Article |
| id | doaj.art-13fa26b4a6eb4179a0b9db6a6b690bbd |
| institution | Directory Open Access Journal |
| issn | 1471-2377 |
| language | English |
| last_indexed | 2024-04-09T18:53:29Z |
| publishDate | 2023-04-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Neurology |
| spelling | doaj.art-13fa26b4a6eb4179a0b9db6a6b690bbd2023-04-09T11:19:55ZengBMCBMC Neurology1471-23772023-04-0123111610.1186/s12883-023-03181-yEpidemiology and patient journey of Rett syndrome in the United States: a real-world evidence studyDamian May0Kalé Kponee-Shovein1Malena Mahendran2Nathaniel Downes3Kristy Sheng4Patrick Lefebvre5Wendy Y. Cheng6Acadia Pharmaceuticals Inc.Analysis Group, Inc.Analysis Group, Inc.Analysis Group, Inc.Analysis Group, Inc.Analysis Group, Inc.Analysis Group, Inc.Abstract Background Rett syndrome (RTT) is a neurodevelopmental disorder that almost exclusively affects females and is associated with high clinical burden. However, literature characterizing the real-world journey of patients with RTT is limited. This study provided an overview of the epidemiology, patient characteristics, clinical manifestations, healthcare resource utilization (HRU), costs, and treatment patterns of patients with RTT in the US. Methods IQVIA™ Medical Claims Data and Longitudinal Prescription Data (11/01/2016–10/31/2019) were used to identify female patients with RTT, with the first observed diagnosis defined as the index date. Annual incidence and prevalence of RTT were assessed over the entire study period; clinical manifestations, all-cause and RTT-related HRU and costs, and treatment patterns were evaluated during the observation period—from the index date to end of clinical activity or end of data availability, whichever occurred first. Results were further stratified into pediatric (< 18 years) and adult (≥ 18 years) subgroups. Results In 2019, prevalence and incidence of RTT was 0.32 and 0.23 per 10,000 enrollees, respectively. Among 5,940 female patients (pediatric: 3,078; adult: 2,862) with mean observation period of 2.04 years, the most prevalent clinical manifestations were neurological disorders (72.8%), gastrointestinal/nutritional disorders (41.9%), and orthopedic disorders (34.6%). The incidence rate of all-cause HRU was 44.43 visits per-patient-per-year and RTT-related HRU comprised 47% of all-cause HRU. Mean all-cause healthcare costs were $40,326 per-patient-per-year, with medical costs driven by home/hospice care visits, therapeutic services, outpatient visits, and inpatient visits. RTT-related healthcare costs comprised 45% of all-cause healthcare costs. The most prevalent supportive therapy and pharmacologic agent were feeding assistance (37.9%) and antiepileptic drugs (54.8%), respectively. Trends were similar by subgroup; although, rates of HRU were generally higher among pediatric patients relative to adult patients (all-cause: 52.43 and 35.86, respectively), which translated into higher mean healthcare costs (all-cause: $45,718 and $34,548, respectively). Conclusions Patients with RTT have substantial disease burden, including prevalent clinical manifestations, high rates of HRU and annual healthcare costs, and reliance on pharmacologic and supportive therapies. These findings underscore the unmet need for effective therapies to target the multifactorial manifestations of RTT.https://doi.org/10.1186/s12883-023-03181-yClinical manifestationsCostsEconomic burdenHealthcare resource utilizationIncidencePrevalence |
| spellingShingle | Damian May Kalé Kponee-Shovein Malena Mahendran Nathaniel Downes Kristy Sheng Patrick Lefebvre Wendy Y. Cheng Epidemiology and patient journey of Rett syndrome in the United States: a real-world evidence study BMC Neurology Clinical manifestations Costs Economic burden Healthcare resource utilization Incidence Prevalence |
| title | Epidemiology and patient journey of Rett syndrome in the United States: a real-world evidence study |
| title_full | Epidemiology and patient journey of Rett syndrome in the United States: a real-world evidence study |
| title_fullStr | Epidemiology and patient journey of Rett syndrome in the United States: a real-world evidence study |
| title_full_unstemmed | Epidemiology and patient journey of Rett syndrome in the United States: a real-world evidence study |
| title_short | Epidemiology and patient journey of Rett syndrome in the United States: a real-world evidence study |
| title_sort | epidemiology and patient journey of rett syndrome in the united states a real world evidence study |
| topic | Clinical manifestations Costs Economic burden Healthcare resource utilization Incidence Prevalence |
| url | https://doi.org/10.1186/s12883-023-03181-y |
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