Caregiver Preference Study for Sanfilippo presented to FDA

April 9, 2020

The urgent mission to save children from the fatal and rapidly-degenerative disease Sanfilippo Syndrome must continue because the disease’s devastating effects never stop, no matter what else is happening in the world. 

With this mindset, Cure Sanfilippo Foundation and the U.S. Food & Drug Administration (FDA) carried on with a planned meeting on March 20.

The meeting was originally scheduled to be in-person at the FDA’s offices in Washington, D.C. It was pivoted to a WebEx meeting to follow best practices in lessening the global spread of Coronavirus. More than 20 officials from the FDA’s Center for Biologics Evaluation and Research (CBER) and Center for Drug Evaluation and Research (CDER) participated.

Photo from online meeting to discuss findings of first-ever Caregiver Preference Study for Sanfilippo Syndrome with FDA's CBER and CDER

The meeting focused on the results of the first-ever Caregiver Preference Study for Sanfilippo Syndrome, which represents the input of 219 caregiver parents. 

The meeting highlighted, based on the Foundation-led study, 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.

“Some quality of life improvements often cannot be measured via traditional IQ tests or other tests being used, explained Foundation Chief Science Officer Cara O’Neill, MD, FAAP. “Things like the ability to swallow, the ability to walk, the ability to sleep through the night, pain and distress … the study showed that these all matter greatly to a parent.”

There was a good deal of agreement from the group on the findings of the study.

“CHANGE is coming thanks to those who participated in the meeting, as well as the many parents who participated in the study and the generous supporters of the Foundation that enable work like this to continue,” said Foundation President Glenn O’Neill. “Thank you, thank you!”

Thank you to Dr. Maria Escolar, RTI International, and Elise for important input and participation in the meeting. Thank you to all the parents who participated in the study, as well as the parents on the study steering committee.

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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