Family and caregiver perspectives on gene therapy for Rett syndrome
Introduction: Rett syndrome (RTT) is a neurodevelopmental disorder that primarily affects females and can result in cognitive impairment, seizures, spasticity, breathing problems, gastrointestinal issues, motor impairment, and behavioral concerns. Gene therapy may be a potential treatment in the fut...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-01-01
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| Series: | Rare |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2950008724000280 |
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| author | Keri Ramsey Madison LaFleur Kiana Robinson Mark Borgstrom Ashley Ryan Vinodh Narayanan Valerie Schaibley |
| author_facet | Keri Ramsey Madison LaFleur Kiana Robinson Mark Borgstrom Ashley Ryan Vinodh Narayanan Valerie Schaibley |
| author_sort | Keri Ramsey |
| collection | DOAJ |
| description | Introduction: Rett syndrome (RTT) is a neurodevelopmental disorder that primarily affects females and can result in cognitive impairment, seizures, spasticity, breathing problems, gastrointestinal issues, motor impairment, and behavioral concerns. Gene therapy may be a potential treatment in the future as clinical trials are underway. Aim: This study evaluates the attitudes and opinions of family members and caregivers of patients with RTT towards gene therapy using a mixed-method approach. Methods: Sixty-six caregivers of individuals with RTT completed an online survey asking about their previous experience in research and questions about their understanding of gene therapy, their expectations, as well as their hopes and concerns for treating RTT. Ten respondents also participated in online focus groups, which were evaluated using thematic analysis. Results: Overall, most participants (95.5 %) had heard about gene therapy. More than half of the respondents (68.2 %) reported being somewhat knowledgeable about gene therapy, and 18.2 % reported no understanding of gene therapy. When asked the highest level of risk they would accept when enrolling the individual with Rett syndrome in a gene therapy clinical trial, 47.7 % stated they would accept a low risk, and 7.7 % indicated they would accept a high risk. In the focus groups, individuals discussed barriers to gene therapy, their hopes and concerns regarding gene therapy treatment, and how they would like to receive information about future research and therapies. Participants had concerns about possible side effects of gene therapy, including physical and mental harm, a potential decrease in quality of life, whether individuals with RTT would want to “change who they are,” and the irreversibility of the treatment. Conclusion: Although most participants have heard about gene therapy, many caregivers would only accept a low risk when considering gene therapy for the individual with RTT. This could be in part due to concerns about side effects and potential harm to the patient as well as anticipated barriers related to cost and accessibility to appropriate follow-up care. Understanding caregiver opinions is important in setting goals and evaluating the success of current studies, identifying and addressing barriers to trials and treatment, and in the development and implementation of educational resources for gene therapy in RTT. |
| format | Article |
| id | doaj-art-d4244cd9a37d451b8cb63c671d274907 |
| institution | Kabale University |
| issn | 2950-0087 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Rare |
| spelling | doaj-art-d4244cd9a37d451b8cb63c671d2749072024-12-18T08:55:37ZengElsevierRare2950-00872024-01-012100045Family and caregiver perspectives on gene therapy for Rett syndromeKeri Ramsey0Madison LaFleur1Kiana Robinson2Mark Borgstrom3Ashley Ryan4Vinodh Narayanan5Valerie Schaibley6Genetic Counseling Graduate Program, University of Arizona Health Sciences, Tucson, AZ, USA; Department of Cellular and Molecular Medicine, University of Arizona College of Medicine, Tucson, AZ, USA; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA; Translational Genomics Research Institute, Phoenix, AZ, USANatera, Inc., San Carlos, CA, USAUniversity Information Technology Services, University of Arizona, Tucson, AZ, USAUniversity Information Technology Services, University of Arizona, Tucson, AZ, USATranslational Genomics Research Institute, Phoenix, AZ, USACenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA; Translational Genomics Research Institute, Phoenix, AZ, USAGenetic Counseling Graduate Program, University of Arizona Health Sciences, Tucson, AZ, USA; Department of Cellular and Molecular Medicine, University of Arizona College of Medicine, Tucson, AZ, USA; Corresponding author at:Genetic Counseling Graduate Program, University of Arizona Health Sciences, Tucson, AZ, USA.Introduction: Rett syndrome (RTT) is a neurodevelopmental disorder that primarily affects females and can result in cognitive impairment, seizures, spasticity, breathing problems, gastrointestinal issues, motor impairment, and behavioral concerns. Gene therapy may be a potential treatment in the future as clinical trials are underway. Aim: This study evaluates the attitudes and opinions of family members and caregivers of patients with RTT towards gene therapy using a mixed-method approach. Methods: Sixty-six caregivers of individuals with RTT completed an online survey asking about their previous experience in research and questions about their understanding of gene therapy, their expectations, as well as their hopes and concerns for treating RTT. Ten respondents also participated in online focus groups, which were evaluated using thematic analysis. Results: Overall, most participants (95.5 %) had heard about gene therapy. More than half of the respondents (68.2 %) reported being somewhat knowledgeable about gene therapy, and 18.2 % reported no understanding of gene therapy. When asked the highest level of risk they would accept when enrolling the individual with Rett syndrome in a gene therapy clinical trial, 47.7 % stated they would accept a low risk, and 7.7 % indicated they would accept a high risk. In the focus groups, individuals discussed barriers to gene therapy, their hopes and concerns regarding gene therapy treatment, and how they would like to receive information about future research and therapies. Participants had concerns about possible side effects of gene therapy, including physical and mental harm, a potential decrease in quality of life, whether individuals with RTT would want to “change who they are,” and the irreversibility of the treatment. Conclusion: Although most participants have heard about gene therapy, many caregivers would only accept a low risk when considering gene therapy for the individual with RTT. This could be in part due to concerns about side effects and potential harm to the patient as well as anticipated barriers related to cost and accessibility to appropriate follow-up care. Understanding caregiver opinions is important in setting goals and evaluating the success of current studies, identifying and addressing barriers to trials and treatment, and in the development and implementation of educational resources for gene therapy in RTT.http://www.sciencedirect.com/science/article/pii/S2950008724000280Rett syndromeGene therapyRiskCaregiver |
| spellingShingle | Keri Ramsey Madison LaFleur Kiana Robinson Mark Borgstrom Ashley Ryan Vinodh Narayanan Valerie Schaibley Family and caregiver perspectives on gene therapy for Rett syndrome Rare Rett syndrome Gene therapy Risk Caregiver |
| title | Family and caregiver perspectives on gene therapy for Rett syndrome |
| title_full | Family and caregiver perspectives on gene therapy for Rett syndrome |
| title_fullStr | Family and caregiver perspectives on gene therapy for Rett syndrome |
| title_full_unstemmed | Family and caregiver perspectives on gene therapy for Rett syndrome |
| title_short | Family and caregiver perspectives on gene therapy for Rett syndrome |
| title_sort | family and caregiver perspectives on gene therapy for rett syndrome |
| topic | Rett syndrome Gene therapy Risk Caregiver |
| url | http://www.sciencedirect.com/science/article/pii/S2950008724000280 |
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