Peer-reviewed publication of first-ever Caregiver Preference Study on Sanfilippo

December 4, 2020

The first peer-reviewed publication of the Sanfilippo Caregiver Preference Study was released in December 2020 in Neurology and Therapy.

This is the first-ever Caregiver Preference Study regarding Sanfilippo Syndrome, which explores what parents consider “meaningful benefit” and serves as an exploratory staging tool.

Cure Sanfilippo Foundation led the international study, bringing together various stakeholders, including partners, regulatory entities, and parents of children with Sanfilippo Syndrome. All steps in the research process were informed by a multidisciplinary advisory committee.

The Neurology and Therapy article authors state, “Parents reported [in the survey] high burden and high unmet treatment need across physical health and cognitive/behavioral/psychological domains, some with differential impact on the child and the caregivers.”

Additionally, “Participants [of the study] advocated for clinical trials that shift focus from primary cognitive outcomes to other multisystem endpoints, and perceptions of non-curative therapies revealed a preference for treatment options that stop or slow the disorder progression to maintain the child’s current function to ensure quality of life; thus parents express high risk tolerance and a desire for broader inclusion criteria for trials.”

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.

“The Sanfilippo Caregiver Preference Study provides critical information and perspectives that further informs key stakeholders, allowing the incorporation of patient voice into the decision making regarding the drug approval process and access,” said Dr. Cara O’Neill, Chief Science Officer for Cure Sanfilippo Foundation.

More than 150 caregivers participated in the study’s quantitative survey and their response analyzed for the study. Additionally, multiple focus groups were utilized.

“Thank you to all of the authors, contributors, and parent participants who made this study possible,” said O’Neil. “As well as thanks to BioMarin PharmaceuticalLysogeneSobi, and Orchard Therapeutics for their grant support of this study.”

Read the publication, “Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment.”

Learn more about the Foundation’s Caregiver Preference Study for Sanfilippo Syndrome. If you have questions, contact Dr. O’Neill at

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