Katherine Ackerman Porter1, Cara O'Neill2, Elise Drake2, Samantha Parker3, Maria L Escolar4,5, Stacey Montgomery6, William Moon6, Carolyn Worrall6, Holly L Peay7. 1. Center for Genomics, Bioinformatics, and Translational Research, RTI International, Research Triangle Park, NC, USA. kmporter@rti.org. 2. Cure Sanfilippo Foundation, Columbia, SC, USA. 3. Patient and Policy Affairs, Lysogene, Neuilly sur Seine, France. 4. University of Pittsburgh Medical Center, Pittsburgh, PA, USA. 5. Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA. 6. Cure Sanfilippo Foundation Parent Advocates, Columbia, SC, USA. 7. Center for Genomics, Bioinformatics, and Translational Research, RTI International, Research Triangle Park, NC, USA.
Abstract
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.
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.
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Authors: Nathan Grant; Young Bae Sohn; N Matthew Ellinwood; Ericka Okenfuss; Bryce A Mendelsohn; Leslie E Lynch; Elizabeth A Braunlin; Paul R Harmatz; Julie B Eisengart Journal: Mol Genet Metab Rep Date: 2022-02-02
Authors: Katherine Ackerman Porter; Cara O'Neill; Elise Drake; Sara M Andrews; Kathleen Delaney; Samantha Parker; Maria L Escolar; Stacey Montgomery; William Moon; Carolyn Worrall; Holly L Peay Journal: J Patient Rep Outcomes Date: 2022-04-25