Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment
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ORIGINAL RESEARCH
Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment Katherine Ackerman Porter
. Cara O’Neill . Elise Drake .
Samantha Parker . Maria L. Escolar . Stacey Montgomery . William Moon . Carolyn Worrall . Holly L. Peay
Received: October 14, 2020 / Accepted: November 19, 2020 The Author(s) 2020
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 lifelimiting disease. Integrating patient and caregiver experience data into drug development Electronic supplementary material The online version of this article (https://doi.org/10.1007/s40120020-00226-z) contains supplementary material, which is available to authorized users. K. A. Porter (&) H. L. Peay Center for Genomics, Bioinformatics, and Translational Research, RTI International, Research Triangle Park, NC, USA e-mail: [email protected] C. O’Neill E. Drake Cure Sanfilippo Foundation, Columbia, SC, USA S. Parker Patient and Policy Affairs, Lysogene, Neuilly sur Seine, France M. L. Escolar University of Pittsburgh Medical Center, Pittsburgh, PA, USA M. L. Escolar Children’s Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA S. Montgomery W. Moon C. Worrall Cure Sanfilippo Foundation Parent Advocates, Columbia, SC, USA
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
Neurol Ther
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 car
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