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Caregivers define meaningful, relevant clinical outcome assessments for Sanfilippo Syndrome

May 19, 2022

Page reviewed by: Dr. Cara O’Neill, FAAP

Page last updated: May 19, 2022

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Cure Sanfilippo Foundation is excited to share the second peer-reviewed journal article from the comprehensive Sanfilippo Caregiver Preference Study.

“Caregivers’ assessment of meaningful and relevant clinical outcome assessments for Sanfilippo syndrome” was published in the April 25 edition of Journal of Patient-Reported Outcomes.

In this study, parents provided feedback through asynchronous focus groups and individual interviews; reporting on highly-impactful symptom domains and priority unmet treatment needs.

“Caregivers reported communication and mobility as highly-impactful domains with unmet treatment needs, followed closely by pain and sleep,” stated the paper.

In the study, parents were further queried in order to assess the face validity and meaningfulness of various specific clinical outcome assessments (COAs) for use in Sanfilippo syndrome clinical trials.

Comparison of caregiver valuing of outcome measure symptom domain and associated
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Figure Source: Porter, K. A., O’Neill, C., Drake, E., Andrews, S. M., Delaney, K., Parker, S., Escolar, M. L., Montgomery, S., Moon, W., Worrall, C., & Peay, H. L. (2022). Caregivers’ assessment of meaningful and relevant clinical outcome assessments for Sanfilippo syndrome. Journal of patient-reported outcomes6(1), 40. https://doi.org/10.1186/s41687-022-00447-w

Authors of the paper report, “Participants [of the study] endorsed the relevance of clinical outcome assessments associated with communication, eating, sleep, and pain, and identified them as highly-favorable for use in a clinical trial. Participants specified some refinements in existing assessments to best reflect Sanfilippo symptoms and disease course.”

“This is another important step forward in understanding how we can focus our efforts regarding clinical endpoints in Sanfilippo syndrome,” said Dr. Cara O’Neill, Foundation Chief Science Officer. “Identifying, creating, or modifying currently-available COA tools that measure symptoms which are important to patients and in a way that resonates with the lived experience is critical to accelerating the path toward FDA approved treatments.”

Participants in the study were parents whose children represented a range of ages, Sanfilippo disease subtypes, stages of disease progression, geographic areas, and socioeconomic variable. 

The Foundation is grateful to all of the parent participants, authors, and contributors who made this work possible.

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