[article]
| Titre : |
Preliminary perspectives on gene therapy in fragile X syndrome: a caregiver view |
| Type de document : |
texte imprimé |
| Auteurs : |
Sarah E.A. ELEY, Auteur ; Sydni WEISSGOLD, Auteur ; Andrew C. STANFIELD, Auteur |
| Langues : |
Anglais (eng) |
| Mots-clés : |
Humans Fragile X Syndrome/therapy/genetics Genetic Therapy/psychology Caregivers/psychology Male Surveys and Questionnaires Female Adult Parents/psychology Child Middle Aged Health Knowledge, Attitudes, Practice Adolescent Fragile X syndrome Gene therapy Qualitative Questionnaire Treatment Views by Edinburgh medical school research ethics committee (EMREC)Â with favourable opinion granted on 25th April 2024 (REC Reference: 24-EMREC-011). Study participation was voluntary and confidential. Data collection occurred between May and July 2024. Competing interests: ACS has received grants and consultancy fees paid to the University of Edinburgh from Novartis, Roche, Shionogi, Enthorin Therapuetics and Zynerba. |
| Index. décimale : |
PER Périodiques |
| Résumé : |
BACKGROUND: There have been increasing numbers of clinical trials of medications for fragile X syndrome (FXS) in recent years, many targeted at proposed underlying cellular or circuit based mechanisms. As yet none of these have led to widespread changes in clinical practice. Genetic therapies represent a different therapeutic approach, which aim to address the genetic mechanisms by which FXS arises. Although not yet moving into human studies in FXS, this is an area of increasing research importance in neurodevelopmental conditions more broadly. It is important that families affected by FXS get the chance to give their views about future genetic therapies, given the potential controversies around genetic therapies. METHODS: We developed a questionnaire to capture caregiver views around gene therapy in FXS. The questionnaire was developed alongside a group of parents / caregivers of a child with FXS to ensure the language used was appropriate and that it would allow a variety of views to be captured. The questionnaire contained questions around current knowledge of gene therapy, what families think of gene therapy and their views on gene therapy trials taking place. Responses were analysed by thematic analysis carried out by two of the authors with data from the questionnaires being grouped into themes and subthemes. RESULTS: The questionnaire was completed by 195 individuals who are parents of, or who care for, someone with FXS. Respondents were primarily from the UK (60.5%) and the Americas (22.1%). The majority of dependants were male (86%). Responses showed a strong interest from the Fragile X community in gene therapy trials taking place, with themes emerging around quality of life, outcomes and feelings. Hope for positive change was balanced against caution about unintended consequences, the newness of the treatment and tolerability. CONCLUSION: Overall, caregivers felt hopeful, excited and interested in the prospect of gene therapy potentially providing a new treatment option, but there was some trepidation about the potential effects. Taking caregiver views into account will help inform decisions around the development and testing of any future genetic interventions. |
| En ligne : |
https://dx.doi.org/10.1186/s11689-025-09629-1 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 |
in Journal of Neurodevelopmental Disorders > 17 (2025)
[article] Preliminary perspectives on gene therapy in fragile X syndrome: a caregiver view [texte imprimé] / Sarah E.A. ELEY, Auteur ; Sydni WEISSGOLD, Auteur ; Andrew C. STANFIELD, Auteur. Langues : Anglais ( eng) in Journal of Neurodevelopmental Disorders > 17 (2025)
| Mots-clés : |
Humans Fragile X Syndrome/therapy/genetics Genetic Therapy/psychology Caregivers/psychology Male Surveys and Questionnaires Female Adult Parents/psychology Child Middle Aged Health Knowledge, Attitudes, Practice Adolescent Fragile X syndrome Gene therapy Qualitative Questionnaire Treatment Views by Edinburgh medical school research ethics committee (EMREC)Â with favourable opinion granted on 25th April 2024 (REC Reference: 24-EMREC-011). Study participation was voluntary and confidential. Data collection occurred between May and July 2024. Competing interests: ACS has received grants and consultancy fees paid to the University of Edinburgh from Novartis, Roche, Shionogi, Enthorin Therapuetics and Zynerba. |
| Index. décimale : |
PER Périodiques |
| Résumé : |
BACKGROUND: There have been increasing numbers of clinical trials of medications for fragile X syndrome (FXS) in recent years, many targeted at proposed underlying cellular or circuit based mechanisms. As yet none of these have led to widespread changes in clinical practice. Genetic therapies represent a different therapeutic approach, which aim to address the genetic mechanisms by which FXS arises. Although not yet moving into human studies in FXS, this is an area of increasing research importance in neurodevelopmental conditions more broadly. It is important that families affected by FXS get the chance to give their views about future genetic therapies, given the potential controversies around genetic therapies. METHODS: We developed a questionnaire to capture caregiver views around gene therapy in FXS. The questionnaire was developed alongside a group of parents / caregivers of a child with FXS to ensure the language used was appropriate and that it would allow a variety of views to be captured. The questionnaire contained questions around current knowledge of gene therapy, what families think of gene therapy and their views on gene therapy trials taking place. Responses were analysed by thematic analysis carried out by two of the authors with data from the questionnaires being grouped into themes and subthemes. RESULTS: The questionnaire was completed by 195 individuals who are parents of, or who care for, someone with FXS. Respondents were primarily from the UK (60.5%) and the Americas (22.1%). The majority of dependants were male (86%). Responses showed a strong interest from the Fragile X community in gene therapy trials taking place, with themes emerging around quality of life, outcomes and feelings. Hope for positive change was balanced against caution about unintended consequences, the newness of the treatment and tolerability. CONCLUSION: Overall, caregivers felt hopeful, excited and interested in the prospect of gene therapy potentially providing a new treatment option, but there was some trepidation about the potential effects. Taking caregiver views into account will help inform decisions around the development and testing of any future genetic interventions. |
| En ligne : |
https://dx.doi.org/10.1186/s11689-025-09629-1 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 |
|  |
Preliminary perspectives on gene therapy in fragile X syndrome: a caregiver view in Journal of Neurodevelopmental Disorders, 17 (2025)
