Caregiver Preference & Priorities for Sanfilippo Syndrome

March 1, 2019
Header for Caregiver Preference Study for Sanfilippo

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.

This important project has received grant support from BioMarin Pharmaceutical, Lysogene, Sobi, and Orchard Therapeutics.

Thank you to all of the authors, contributors, and parent participants who made this study possible.

Publication of Caregiver Preference & Priorities

April 2022

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.

Read the publication, “Caregivers’ assessment of meaningful and relevant clinical outcome assessments for Sanfilippo syndrome“.

December 2020

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.

Poster Presentations 

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.

Cara O'Neill presenting Caregiver Preference Study results at national conference

Dr. Cara O’Neill, Chief Science Officer for Cure Sanfilippo Foundation, presenting a poster on the caregiver preference study at WORLD Symposium 2019.

Sanfilippo Syndrome caregiver preference study poster presentation

This page was last updated February 13, 2023.

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