Sanfilippo Syndrome is a rare, pediatric-onset, multi-symptom disorder with no approved treatments. We report the second phase of a study to assess parent priorities regarding treatment targets and associated clinical outcome measures.
The first study phase resulted in high-priority symptom domains including communication, behavior, adapting, mobility, sleep, eating, and pain. To explore meaningfulness of validated outcome measures associated with prioritized domains, we conducted interviews with parents of children with Sanfilippo. Participants were queried regarding impact of four symptom domains; meaningfulness and face validity of associated outcome measures; and attitudes about a clinical trial employing the measures. Recorded interviews were coded using a respondent- and item-tracking matrix.
The 19 parents had children who ranged in age (2–24 years) and severity of disease. Parents indicated communication and mobility domains as particularly important due to impact on quality of life. Domains such as adapting, behavior, and eating were also highly meaningful. Parents reported positive perceptions of the validated outcome measures associated with communication (Vineland-3 Communication), eating (CHOMPS), sleep (Children’s Sleep Habits Questionnaire), pain (Non-Communicating Child’s Pain Checklist), and behavior (Aberrant Behavior Checklist). Parents were highly favorable about use of these measures in a clinical trial setting. Participants also specified aspects of measure instruction set or items (e.g., time period of response or situational aspects) that may be important to modify in order to target the outcome measures for Sanfilippo syndrome.
Symptoms in Sanfilippo syndrome weighted toward the cognitive domain, but global cognitive measures are broad and may not be adequately sensitive or disease specific to be responsive to subtle but meaningful change in a non-curative therapy. Parents reported multiple symptom domains and outcome measures as meaningful in a clinical trial context. Across all ages, sub-types and stages of disease, parents highly valued quality of life in determining meaningfulness.
© 2020 Published by Elsevier Inc.