[article]
| Titre : |
Characterizing the journey of Rett syndrome among females in the United States: a real-world evidence study using the Rett syndrome natural history study database |
| Type de document : |
texte imprimé |
| Auteurs : |
Damian MAY, Auteur ; Kalé KPONEE-SHOVEIN, Auteur ; Jeffrey L. NEUL, Auteur ; Alan K. PERCY, Auteur ; Malena MAHENDRAN, Auteur ; Nathaniel DOWNES, Auteur ; Grace CHEN, Auteur ; Talissa WATSON, Auteur ; Dominique C. PICHARD, Auteur ; Melissa KENNEDY, Auteur ; Patrick LEFEBVRE, Auteur |
| Langues : |
Anglais (eng) |
| Mots-clés : |
Humans Rett Syndrome/physiopathology/therapy/complications Female United States/epidemiology Adult Child Adolescent Retrospective Studies Young Adult Child, Preschool Severity of Illness Index Registries Infant Databases, Factual Clinical manifestations Disease progression Natural history Registry Rett syndrome Treatment patterns International Rett Syndrome Foundation. KKS, MM, ND, GC, TW, and PL are employees of Analysis Group, Inc., a consultancy that received funding from Acadia Pharmaceuticals, Inc. to conduct this study. AKP is co-editor of Translational Science of Rare Diseases, received research funding from the National Institutes of Health, and is a consultant for Acadia Pharmaceuticals Inc., Anavex Life Sciences Corp., AveXis, and GW Pharmaceuticals, as well as advisor to the International Rett Syndrome Foundation. JLN has received research funding from the International Rett Syndrome Foundation, the National Institutes of Health, and Rett Syndrome Research Trust and personal consultancy fees from Acadia Pharmaceuticals Inc., Analysis Group, AveXis, GW Pharmaceuticals, Hoffmann-La Roche, Myrtelle, Neurogene, Newron Pharmaceuticals, Signant Health, and Taysha Gene Therapies, and for the preparation of CME activities for Medscape and Peer Review Institute serves on the scientific advisory board of Alcyone Lifesciences is a scientific cofounder of LizarBio Therapeutics and was a member of a data safety monitoring board for clinical trials conducted by Ovid Therapeutics. |
| Index. décimale : |
PER Périodiques |
| Résumé : |
BACKGROUND: With the advent of the first targeted therapy for Rett Syndrome (RTT), a comprehensive assessment of the journey of RTT is needed to elucidate on present unmet needs in this population. This study characterized females with RTT in the United States and their disease journey with respect to longitudinal treatment patterns, RTT-related outcomes, and changes in disease severity. METHODS: This retrospective cohort study used registry data of females with RTT from the 5211 RTT Natural History Study (RNHS) (November 2015-July 2021). Pharmacological and supportive therapy use, RTT-related outcomes, and RTT severity, as measured by the Clinical Severity Scale and Motor Behavioral Assessment scale, were evaluated following the first RNHS visit. Analyses were conducted overall and in subgroups by RTT type (classic and atypical RTT) and age at first visit (pediatric and adult). RESULTS: A total of 455 females with RTT were included in the study, of whom 90.5% had classic RTT and 79.8% were pediatric individuals. Over a median follow-up of 4 years, use of pharmacological therapies, including prokinetic agents (42.7% vs. 28.3%), and supportive therapies, including physical therapy (87.3% vs. 40.2%) and speech-language therapy (86.8% vs. 23.9%), were more common in pediatric than adult individuals (all p < 0.05). Nearly half (44.6%) of all individuals had a hospital or emergency room visit, with a higher proportion of visits in individuals with classic RTT than atypical RTT and pediatric than adult individuals (both p = 0.001). An increasing trend in clinical severity was observed in pediatric individuals (mean change per year: 0.24; 95% confidence interval [CI]: 0.03, 0.44), while an increasing trend in motor-behavioral dysfunction was observed in pediatric individuals (mean change per year: 1.12; 95% CI: 0.63, 1.60) and those with classic RTT (mean change per year: 0.97; 95% CI: 0.53, 1.41). CONCLUSIONS: Findings from this study highlight the considerable burden of RTT across disease subtype and age. Despite reliance on supportive therapies and healthcare encounters, individuals with RTT experience increasing disease severity and motor-behavioral dysfunction in childhood and adolescence, underscoring the unmet needs of this population and the value of early intervention to manage RTT in the long-term. |
| En ligne : |
https://dx.doi.org/10.1186/s11689-024-09557-6 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 |
in Journal of Neurodevelopmental Disorders > 16 (2024)
[article] Characterizing the journey of Rett syndrome among females in the United States: a real-world evidence study using the Rett syndrome natural history study database [texte imprimé] / Damian MAY, Auteur ; Kalé KPONEE-SHOVEIN, Auteur ; Jeffrey L. NEUL, Auteur ; Alan K. PERCY, Auteur ; Malena MAHENDRAN, Auteur ; Nathaniel DOWNES, Auteur ; Grace CHEN, Auteur ; Talissa WATSON, Auteur ; Dominique C. PICHARD, Auteur ; Melissa KENNEDY, Auteur ; Patrick LEFEBVRE, Auteur. Langues : Anglais ( eng) in Journal of Neurodevelopmental Disorders > 16 (2024)
| Mots-clés : |
Humans Rett Syndrome/physiopathology/therapy/complications Female United States/epidemiology Adult Child Adolescent Retrospective Studies Young Adult Child, Preschool Severity of Illness Index Registries Infant Databases, Factual Clinical manifestations Disease progression Natural history Registry Rett syndrome Treatment patterns International Rett Syndrome Foundation. KKS, MM, ND, GC, TW, and PL are employees of Analysis Group, Inc., a consultancy that received funding from Acadia Pharmaceuticals, Inc. to conduct this study. AKP is co-editor of Translational Science of Rare Diseases, received research funding from the National Institutes of Health, and is a consultant for Acadia Pharmaceuticals Inc., Anavex Life Sciences Corp., AveXis, and GW Pharmaceuticals, as well as advisor to the International Rett Syndrome Foundation. JLN has received research funding from the International Rett Syndrome Foundation, the National Institutes of Health, and Rett Syndrome Research Trust and personal consultancy fees from Acadia Pharmaceuticals Inc., Analysis Group, AveXis, GW Pharmaceuticals, Hoffmann-La Roche, Myrtelle, Neurogene, Newron Pharmaceuticals, Signant Health, and Taysha Gene Therapies, and for the preparation of CME activities for Medscape and Peer Review Institute serves on the scientific advisory board of Alcyone Lifesciences is a scientific cofounder of LizarBio Therapeutics and was a member of a data safety monitoring board for clinical trials conducted by Ovid Therapeutics. |
| Index. décimale : |
PER Périodiques |
| Résumé : |
BACKGROUND: With the advent of the first targeted therapy for Rett Syndrome (RTT), a comprehensive assessment of the journey of RTT is needed to elucidate on present unmet needs in this population. This study characterized females with RTT in the United States and their disease journey with respect to longitudinal treatment patterns, RTT-related outcomes, and changes in disease severity. METHODS: This retrospective cohort study used registry data of females with RTT from the 5211 RTT Natural History Study (RNHS) (November 2015-July 2021). Pharmacological and supportive therapy use, RTT-related outcomes, and RTT severity, as measured by the Clinical Severity Scale and Motor Behavioral Assessment scale, were evaluated following the first RNHS visit. Analyses were conducted overall and in subgroups by RTT type (classic and atypical RTT) and age at first visit (pediatric and adult). RESULTS: A total of 455 females with RTT were included in the study, of whom 90.5% had classic RTT and 79.8% were pediatric individuals. Over a median follow-up of 4 years, use of pharmacological therapies, including prokinetic agents (42.7% vs. 28.3%), and supportive therapies, including physical therapy (87.3% vs. 40.2%) and speech-language therapy (86.8% vs. 23.9%), were more common in pediatric than adult individuals (all p < 0.05). Nearly half (44.6%) of all individuals had a hospital or emergency room visit, with a higher proportion of visits in individuals with classic RTT than atypical RTT and pediatric than adult individuals (both p = 0.001). An increasing trend in clinical severity was observed in pediatric individuals (mean change per year: 0.24; 95% confidence interval [CI]: 0.03, 0.44), while an increasing trend in motor-behavioral dysfunction was observed in pediatric individuals (mean change per year: 1.12; 95% CI: 0.63, 1.60) and those with classic RTT (mean change per year: 0.97; 95% CI: 0.53, 1.41). CONCLUSIONS: Findings from this study highlight the considerable burden of RTT across disease subtype and age. Despite reliance on supportive therapies and healthcare encounters, individuals with RTT experience increasing disease severity and motor-behavioral dysfunction in childhood and adolescence, underscoring the unmet needs of this population and the value of early intervention to manage RTT in the long-term. |
| En ligne : |
https://dx.doi.org/10.1186/s11689-024-09557-6 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 |
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