OBJECTIVES: This international study examines the burden and quality of life (QoL) impacts experienced by patients and caregivers of Wiskott-Aldrich Syndrome (WAS), a rare immunodeficiency disorder. More specifically, symptom burden, time commitment, psychosocial impacts, and financial implications were explored.

METHODS: Twenty WAS caregivers and three patients participated in 60-minute web surveys, followed by 30-minute qualitative phone interviews between January to February 2022. Validated QoL tools, PedsQL and EQ-5D-5L, were included. Respondents from the United States (n=14), United Kingdom (n=5), Germany (n=3), and Canada (n=1) participated. Recipients of experimental gene therapy were excluded.

RESULTS: PedsQL scores and all subscales for WAS patients in US, UK, and DE were directionally lower than population norms. The most frequent symptoms impacting QoL included rash/eczema, excessive tiredness, and easy bruising. Social activities were limited for 68% of patients due to infection risk. Patients had an average of 8 WAS-related outpatient visits in the past year. 75% of caregivers faced challenges in maintaining family relationships and 100% expressed worries for the future. Forty percent of caregivers expressed discomfort with WAS-related expenses and 60% had to stop working to care for their child with WAS. Caregivers were also more likely to report problems with anxiety/depression on the EQ-5D-5L compared to population norms. While hematopoietic stem cell transplant patients were directionally more likely to report better QoL compared to non-transplanted, current PedsQL scores, number of outpatient visits in the past year, and caregiver impacts were comparable. For transplanted patients, rash/eczema, upper respiratory infection, and food/seasonal allergies were most frequently reported as impacting QoL, and 19% still experienced negative QoL impacts from cGVHD.

CONCLUSIONS: This study highlights the negative QoL impacts, and substantial burden associated with WAS for patients and caregivers, regardless of transplant status, with implications for the need for improved support measures and treatment options.