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Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment
INTRODUCTION: Sanfilippo syndrome (MPS III) is a rare, degenerative condition characterized by symptoms impacting cognitive ability, mobility, behavior, and quality of life. Currently there are no approved therapies for this severe life-limiting disease. Integrating patient and caregiver experience...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Healthcare
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8139994/ https://www.ncbi.nlm.nih.gov/pubmed/33263924 http://dx.doi.org/10.1007/s40120-020-00226-z |
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author | Porter, Katherine Ackerman O’Neill, Cara Drake, Elise Parker, Samantha Escolar, Maria L. Montgomery, Stacey Moon, William Worrall, Carolyn Peay, Holly L. |
author_facet | Porter, Katherine Ackerman O’Neill, Cara Drake, Elise Parker, Samantha Escolar, Maria L. Montgomery, Stacey Moon, William Worrall, Carolyn Peay, Holly L. |
author_sort | Porter, Katherine Ackerman |
collection | PubMed |
description | INTRODUCTION: Sanfilippo syndrome (MPS III) is a rare, degenerative condition characterized by symptoms impacting cognitive ability, mobility, behavior, and quality of life. Currently there are no approved therapies for this severe life-limiting disease. Integrating patient and caregiver experience data into drug development and regulatory decision-making has become a priority of the Food and Drug Administration and rare disease patient communities. METHODS: This study assesses parents’ perceptions of their child’s Sanfilippo syndrome disease-related symptoms using a research approach that is consistent with the Center for Drug Evaluation and Research (CDER) guidance. This study was initiated by the Cure Sanfilippo Foundation, and all steps in the research process were informed by a multidisciplinary advisory committee, with an objective of informing biopharmaceutical companies and regulatory agencies. We explored caregiver burden, symptoms with greatest impact, and meaningful but unmet treatment needs. Data were collected from 25 parents through three focus groups and a questionnaire. Transcripts were coded and analyzed using inductive thematic analysis, and descriptive analysis of quantitative data was conducted. RESULTS: Participating parents’ children ranged in age from 4 to 36 years. Participants endorsed high caregiving burden across all stages of the disease. Analysis revealed multiple domains of unmet need that impact child and family quality of life, including cognitive-behavioral challenges in communication, relationships, behavior, anxiety, and child safety; and physical health symptoms including sleep, pain, and mobility. Participants reported placing high value on incremental benefits targeting those symptoms, and on a treatment that would slow or stop symptom progression. CONCLUSION: Even modest treatment benefits for Sanfilippo syndrome were shown to be highly valued. Despite high caregiver burden, most parents expressed a willingness to “try anything,” including treatments with potentially high risk profiles, to maintain their child’s current state. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s40120-020-00226-z) contains supplementary material, which is available to authorized users. |
format | Online Article Text |
id | pubmed-8139994 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Springer Healthcare |
record_format | MEDLINE/PubMed |
spelling | pubmed-81399942021-06-03 Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment Porter, Katherine Ackerman O’Neill, Cara Drake, Elise Parker, Samantha Escolar, Maria L. Montgomery, Stacey Moon, William Worrall, Carolyn Peay, Holly L. Neurol Ther Original Research INTRODUCTION: Sanfilippo syndrome (MPS III) is a rare, degenerative condition characterized by symptoms impacting cognitive ability, mobility, behavior, and quality of life. Currently there are no approved therapies for this severe life-limiting disease. Integrating patient and caregiver experience data into drug development and regulatory decision-making has become a priority of the Food and Drug Administration and rare disease patient communities. METHODS: This study assesses parents’ perceptions of their child’s Sanfilippo syndrome disease-related symptoms using a research approach that is consistent with the Center for Drug Evaluation and Research (CDER) guidance. This study was initiated by the Cure Sanfilippo Foundation, and all steps in the research process were informed by a multidisciplinary advisory committee, with an objective of informing biopharmaceutical companies and regulatory agencies. We explored caregiver burden, symptoms with greatest impact, and meaningful but unmet treatment needs. Data were collected from 25 parents through three focus groups and a questionnaire. Transcripts were coded and analyzed using inductive thematic analysis, and descriptive analysis of quantitative data was conducted. RESULTS: Participating parents’ children ranged in age from 4 to 36 years. Participants endorsed high caregiving burden across all stages of the disease. Analysis revealed multiple domains of unmet need that impact child and family quality of life, including cognitive-behavioral challenges in communication, relationships, behavior, anxiety, and child safety; and physical health symptoms including sleep, pain, and mobility. Participants reported placing high value on incremental benefits targeting those symptoms, and on a treatment that would slow or stop symptom progression. CONCLUSION: Even modest treatment benefits for Sanfilippo syndrome were shown to be highly valued. Despite high caregiver burden, most parents expressed a willingness to “try anything,” including treatments with potentially high risk profiles, to maintain their child’s current state. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s40120-020-00226-z) contains supplementary material, which is available to authorized users. Springer Healthcare 2020-12-02 /pmc/articles/PMC8139994/ /pubmed/33263924 http://dx.doi.org/10.1007/s40120-020-00226-z Text en © The Author(s) 2020 https://creativecommons.org/licenses/by-nc/4.0/Open Access This article is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License, which permits any non-commercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) . |
spellingShingle | Original Research Porter, Katherine Ackerman O’Neill, Cara Drake, Elise Parker, Samantha Escolar, Maria L. Montgomery, Stacey Moon, William Worrall, Carolyn Peay, Holly L. Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment |
title | Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment |
title_full | Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment |
title_fullStr | Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment |
title_full_unstemmed | Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment |
title_short | Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment |
title_sort | parent experiences of sanfilippo syndrome impact and unmet treatment needs: a qualitative assessment |
topic | Original Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8139994/ https://www.ncbi.nlm.nih.gov/pubmed/33263924 http://dx.doi.org/10.1007/s40120-020-00226-z |
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