Approaching Sanfilippo from the parent’s perspective

21 Jun 2021

Sanfilippo Syndrome is a genetic disease causing neurodegeneration and other impacts on the body. Symptoms usually appear in early childhood and include developmental delay,  behavioural and sleep issues, a loss of mobility and cognitive decline. Most patients die before adulthood. In Sanfilippo, it is not only the patients that feel these effects but their families as a whole.

Traditional approaches to medical research have come from the perspectives of clinicians and researchers. However, there is a growing understanding of the importance of placing patients’ and caregivers’ needs at the centre of research. This patient-centred research will help ensure that the development of treatments will provide meaningful benefits for patients and families.

A study initiated by Cure Sanfilippo Foundation, USA, aimed to investigate the impact of Sanfilippo symptoms on patients and families from the parent’s perspective. Through focus groups and a questionnaire, 25 parents of Sanfilippo patients aged 4-36 years gave insights into caregiver burden, the impact of symptoms, and essential yet unmet treatment needs. 

The study identified two distinct points of impact: 1) cognitive, behavioural and psychological health impact and 2) physical health impact. Often, the most burdensome symptoms were multidimensional; for example, sleep disturbance was noted as a psychological impact for parents and the family, while also having a physical impact on the patient.

The first point of impact, which focused on cognitive, behavioural and psychological symptoms, included hyperactivity, anxiety and communication difficulties. Parents identified behavioural and communication issues as essential treatment needs that are currently unmet. The difficulty in understanding the needs of their children led to a considerable burden for the whole family, with feelings of helplessness and distress.

When focusing on the impact of physical health, the most common issue reported by parents was concerning pain: worrying about the pain experienced by their child, not knowing when their child was in pain, and their child’s pain not able to be alleviated. Other symptoms identified as having a significant effect on their child included loss of mobility, maintaining adequate nutrition, toileting challenges and vulnerability to illness. 

Notably, the current focus on cognitive development outcomes in clinical trials means that older children with more advanced cognitive decline are often excluded from trials. This was a significant issue raised by parents, who felt that other treatment benefits would also be highly valuable, such as improving other symptoms or halting or slowing down disease progression. Reducing the impacts identified in this study, like behavioural and communication issues, would reduce the overall burden of disease and increase the quality of life for the whole family.

This important research will help to inform future funding into therapeutic avenues for Sanfilippo. It will also guide the development of clinical trials that seek to measure treatment outcomes that are meaningful and important to families.