Caregiver-reported impact on quality of life and disease burden in patients diagnosed with metachromatic leukodystrophy: Results of an online survey and a qualitative interview

Caregiver-reported impact on quality of life and disease burden in patients diagnosed with metachromatic leukodystrophy: Results of an online survey and a qualitative interview

Pang F; Shapovalov Y; Howie K; Wilds A; Calcagni C; Walz M

Molecular Genetics and Metabolism

2020

adolescent; adult; biomedical technology assessment; bone marrow transplantation; Caregiver; child; clinical article; conference abstract; controlled study; disease burden; enzyme replacement; European Quality of Life 5 Dimensions questionnaire; female; follow up; France; Germany; human; human tissue; infant; institutional review; interview; investment; juvenile; male; metachromatic leukodystrophy; multicenter study; palliative therapy; patient advocacy; patient care; preliminary data; quality of life; recall; sample size; wellbeing

Metachromatic leukodystrophy (MLD) is a rare autosomal recessive lysosomal disorder caused by a deficiency of the enzyme arylsulfatase A (ARSA). Symptoms include motor decline, developmental regression, decreased intellectual capabilities, and behavioural/psychiatric abnormalities. Until now, little data exists on the burden of illness of MLD for patients and their caregivers. This multinational study aims to quantify caregiver-reported impacts across several key domains including symptoms, treatment burden, time investment, social & emotional well-being, and professional and financial impact. Data were collected using a 45 min web survey and follow-up interview. The survey incorporated the PedsQLTM, a well-validated QoL measure for adolescents and children, and other questions specifically designed to measure the resource use relevant for MLD families based on a majority recall period of 4 weeks. The EQ-5D was also administered to capture the impact of MLD on caregivers (health disutilities). Extensive validation of the survey was conducted through feedback from clinical experts (US and France), and MLD patient advocacy groups (US and UK). This study was approved by an independent Institutional Review Board. Respondents were recruited from the US, UK, France, and Germany, representing a mix of families based on onset types (late infantile, juvenile, adult) and treatment received (supportive/palliative care, bone marrow transplant, enzyme replacement therapy). Due to the rarity of the disease, this study has no upper limit on sample size and is actively recruiting to December 2019 with a sample of >=30 respondents. Preliminary results based on current available data indicate that there is significant burden of MLD on patients and their caregivers, with some degree of variability depending on onset type. This multinational study enhances our understanding of the burden of disease of MLD, which ultimately should improve patient care and assist in the health technology assessment (HTA) of interventions for MLD.

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