GM1-gangliosidosis (GM1) is a rare neurodegenerative disorder leading to early mortality and causing progressive decline of physical skills and cerebral functioning. No approved treatment for GM1 exists. In this study—the first to explore priorities of parents of subjects with pediatric onset forms of GM1—we address a crucial gap by characterizing symptoms most critical to caregivers of children with GM1 to treat. Our two-part, mixed-methods approach began with focus groups, followed by interviews with a distinct set of parents. Interviews included a prioritization activity that used best-worst scaling. Quantitative data were analyzed descriptively. Qualitative data were analyzed using thematic analysis and rapid analysis process. Parents prioritized the symptoms they believed would increase their child's lifespan and improve their perceived quality of life (QoL); these symptoms focused on communicating wants/needs, preventing pain/discomfort, getting around and moving one's body, and enhancing eating/feeding. Although lifespan was highly valued, almost all parents would not desire a longer lifespan without acceptable child QoL. Parents indicated high caregiver burden and progressive reduction in QoL for children with GM1. This novel study of caregiver priorities identified important symptoms for endpoints' selection in patient-focused drug development in the context of high disease impact and unmet treatment needs.
Bibliographical noteFunding Information:
This study was funded by the Cure GM1 Foundation, with support from Sio Gene Therapies, Passage Bio, Lysogene, Azafaros, Cure GM1 Foundation, and NTSAD.
A. Bingaman, S. M. Andrews, and H. Peay are Employees for RTI International; supported by funding from the Cure GM1 Foundation. M. Trad is employee of Lysogene. R. Giugliani is Investigator, Consultant, and/or Speaker fees received from Abeona, Allievex, Amicus, Avrobio, Azafaros, BioMarin, Chiesi, Cyclo, DASA, Denali, Idorsia, Inventiva, Janssen, JCR, Lysogene, Novartis, Paradigm, PassageBio, Protalix, PTC, RegenxBio, Sanofi, Sigilon, Sobi, Takeda, and Ultragenyx. R. Giorgino is Employee of Azafaros. J. Jarnes is Consulting work for WORLD Symposium, Passage Bio, Lysogene, Sio Gene Therapeutics, Azafaros, Sanofi, BioMarin Pharmaceutical, Takeda Pharmaceutical, Spark Therapeutics; Investigator for clinical trials for Lysogene, Sanofi, BioMarin Pharmaceutical, Amicus Therapeutics, Takeda Pharmaceutical; Global Principal Investigator for Passage Bio; Advisor for the Cure GM1 Foundation. V. Ballard was formerly an employee at Passage Bio, Inc. All other authors have no conflict of interest to declare.
© 2022 Research Triangle Institute and The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
- patient-focused drug development
- treatment priorities
PubMed: MeSH publication types
- Journal Article