TY - JOUR
T1 - Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA
T2 - a mixed methods approach
AU - Lanar, Sally
AU - Parker, Samantha
AU - O’Neill, Cara
AU - Marrel, Alexia
AU - Arnould, Benoit
AU - Héron, B. nédicte
AU - Muschol, Nicole
AU - Wijburg, Frits A.
AU - Chakrapani, Anupam
AU - Olivier, Sophie
AU - Aiach, Karen
N1 - Funding Information: This research was funded by Lysogene, Neuilly-sur-Seine, France. Funding Information: SL, AM and BA are employees of ICON plc and paid consultants for Lysogene. SP and SO were employees of Lysogene at the time of the study. KA is the founder, chair and CEO of Lysogene. NH has received grant/research support from BioMarin, Sanofi Genzyme and Shire/Takeda, she received consulting fees and/or honoraria/travel support from Actelion, Amicus, BioMarin, Chiesi, JCR Pharmaceuticals, Lysogene, Sanofi Genzyme, Shire/Takeda and Sobi. AC works for Great Ormond Street Hospital which received funding from Lysogene to conduct research. CO is a paid consultant for Lysogene. FW has served as a consultant for Orchard Therapeutics and received travel grants from Lysogene. BH is an expert consultant for Lysogene. She has received honoraria for advisory boards from Orchard Therapeutics, Actelion, and Shire/Takeda, Orphazyme; received honoraria/travel support from Actelion, BioMarin, Shire/Takeda; is principal investigator for Abeona, Orphazyme, Lysogene, Mallincrodt, Idorsia, and Chiesi studies. Publisher Copyright: © 2022, The Author(s).
PY - 2022/12/1
Y1 - 2022/12/1
N2 - Background: MPS IIIA is a rare, degenerative pediatric genetic disease characterized by symptoms impacting cognition, mobility and behavior; the mean age of death is around 15 years of age. Currently, there are no approved therapies for MPS IIIA. Methods: A two-year, multi-center, prospective, descriptive cohort study was conducted to document the natural history course of MPS IIIA. In the context of this study, semi-structured interviews were performed with parents of children at study entry and one year later. Interview transcripts were analyzed using thematic analysis methods to identity concepts of interest to children and parents, identify what factors impacted parents’ burden the most, and develop qualitatively-derived disease severity stages. Children were sorted into these stages according to the symptoms their parents described at the entry interview. This sorting was compared quantitatively to the sorting of children at baseline according to the child’s calendar age and their BSID development quotient (DQ). Results: 22 parents in France, Germany, the Netherlands and the UK were interviewed. Children ranged in age from 28 to 105 months (mean 61.4 months). The conceptual models for children’s symptoms and impacts and parents’ impacts provided a detailed and comprehensive picture of what it is like for children of various ages and their parents to live with MPS IIIA. Four factors were identified as mediating the burden perceived by parents: state support, family support, time since diagnosis, and parent coping strategy. Four disease stages were developed, accounting for both the presence and the severity of MPS IIIA symptoms. The comparison of children’s sorting into these stages with the BSID DQ and the child’s calendar age showed strong statistical associations. Conclusions: The findings of this qualitative research embedded in a natural history study add to the current understanding of MPS IIIA as a complex disease that impacts every aspect of the lives of children and their families. This study demonstrates the unique potential of mixed methods research in rare diseases to address some of the current limitations of more traditional quantitative approaches by providing an individualized, detailed understanding of the patient experience.
AB - Background: MPS IIIA is a rare, degenerative pediatric genetic disease characterized by symptoms impacting cognition, mobility and behavior; the mean age of death is around 15 years of age. Currently, there are no approved therapies for MPS IIIA. Methods: A two-year, multi-center, prospective, descriptive cohort study was conducted to document the natural history course of MPS IIIA. In the context of this study, semi-structured interviews were performed with parents of children at study entry and one year later. Interview transcripts were analyzed using thematic analysis methods to identity concepts of interest to children and parents, identify what factors impacted parents’ burden the most, and develop qualitatively-derived disease severity stages. Children were sorted into these stages according to the symptoms their parents described at the entry interview. This sorting was compared quantitatively to the sorting of children at baseline according to the child’s calendar age and their BSID development quotient (DQ). Results: 22 parents in France, Germany, the Netherlands and the UK were interviewed. Children ranged in age from 28 to 105 months (mean 61.4 months). The conceptual models for children’s symptoms and impacts and parents’ impacts provided a detailed and comprehensive picture of what it is like for children of various ages and their parents to live with MPS IIIA. Four factors were identified as mediating the burden perceived by parents: state support, family support, time since diagnosis, and parent coping strategy. Four disease stages were developed, accounting for both the presence and the severity of MPS IIIA symptoms. The comparison of children’s sorting into these stages with the BSID DQ and the child’s calendar age showed strong statistical associations. Conclusions: The findings of this qualitative research embedded in a natural history study add to the current understanding of MPS IIIA as a complex disease that impacts every aspect of the lives of children and their families. This study demonstrates the unique potential of mixed methods research in rare diseases to address some of the current limitations of more traditional quantitative approaches by providing an individualized, detailed understanding of the patient experience.
KW - MPS IIIA
KW - Natural history study
KW - Qualitative research
KW - Thematic analysis
UR - http://www.scopus.com/inward/record.url?scp=85125156760&partnerID=8YFLogxK
U2 - https://doi.org/10.1186/s13023-022-02208-w
DO - https://doi.org/10.1186/s13023-022-02208-w
M3 - Article
C2 - 35193633
SN - 1750-1172
VL - 17
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
IS - 1
M1 - 75
ER -