Cure Sanfilippo Foundation has published the first-ever Caregiver Preference Study for Sanfilippo Syndrome. It includes what parents consider “meaningful benefit,” as well as serves as an exploratory staging tool.
The aim of the Caregiver Preference Study is to help inform the selection and development of clinical trial endpoints to reflect desired treatment benefits across the lifespan of children with Sanfilippo Syndrome.
Publication of these findings will further inform key stakeholders, allowing the incorporation of patient voice into the decision making regarding the drug approval process and access.
The study’s project design incorporated various stakeholders, including industry partners, regulatory, and parents of children with Sanfilippo Syndrome.
More than 150 caregivers completed the quantitative survey and their response analyzed for the study.
Study results are shared via poster presentations, manuscripts, and peer-reviewed publications.
Thank you to all of the authors, contributors, and parent participants who made this study possible.
Publication of Caregiver Preference & Priorities
In April 2022, the second peer-reviewed publication from the Foundation-led Sanfilippo Caregiver Preference Study was released in the Journal of Patient Reported Outcomes.
The first peer-reviewed publication from the Foundation-led Sanfilippo Caregiver Preference Study was released December 2020 in Neurology and Therapy.
Read the publication, “Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment“.
Presentation of study findings to FDA
In March 2020, Cure Sanfilippo Foundation presented to the U.S. Food & Drug Administration (FDA) the study’s illumination of the need to include non-cognitive based endpoints when evaluating therapies for Sanfilippo, particularly for children over 2 years of age. Additionally, the importance and value to caregivers of improving a child’s quality of life was emphasized with the CDER and CBER officials.
Read more about the meeting with FDA leaders.
Outcomes and interim results from the study’s focus groups (the qualitative portion) were shared in a Platform and Poster Presentation at the World Symposium in February 2019, and can be found here: presentation poster from the WORLD Symposium 2019.
Dr. Cara O’Neill, Chief Science Officer for Cure Sanfilippo Foundation, presenting a poster on the caregiver preference study at WORLD Symposium 2019.
This page was last updated February 13, 2023.