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A study on the quality of life and burden of informal caregivers of children with metachromatic leukodystrophy in Poland
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DOI：10.1186/s13023-026-04545-6.png)
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Abstract
En 中文
Metachromatic leukodystrophy (MLD) is a rare, inherited lysosomal storage disorder caused by a deficiency in arylsulfatase A (ARSA), leading to sulfatide accumulation, demyelination, and progressive neurological decline. Without treatment, patients – particularly those with early-onset forms – typically lose the ability to walk or communicate within months of symptom onset, and life expectancy is markedly reduced, often below 10 years. Although MLD is likely underdiagnosed in Poland, prevalence may be higher than average. Early diagnosis and prompt intervention with gene therapy (arsa-cel) are critical, as neuronal damage is irreversible. This exploratory study aimed to characterise the clinical course of MLD in Poland and assess the quality of life and financial well-being of caregivers. The study included 13 MLD patients and 28 caregivers. The most common forms were late-infantile (46.2%) and early-juvenile (38.5%). Most patients were classified as GMFC-MLD stage 6 (53.8%) and ELFC-MLD stage 4 (69.2%). Common symptoms included spasticity (84.6%), walking difficulties (84.6%), and speech disorders (69.2%). The mean age at diagnosis was 4.8 years, with 69.2% of caregivers reporting that delayed diagnosis adversely impacted the child’s health. Caregivers were predominantly female (67.9%) and reported high caregiving demands (mean = 35.7 h/week). WHOQOL-BREF scores exceeded medians for caregivers of people with rare diseases across all domains. Financial well-being was strongly correlated with physical health (r = 0.636, p < 0.001) and psychological health (r = 0.717, p < 0.001). Only 14.3% of MLD caregivers received psychological counselling at diagnosis, though 92.3% received financial support. Gene therapy was reported in 15.4% of cases; most patients received multiple forms of rehabilitative therapy. MLD in Poland is characterised by early-onset, rapidly progressing forms that lead to severe disability and impose significant burdens on families. Delayed diagnosis was commonly reported in this cohort, with many caregivers indicating that it had negatively affected the child’s health and limited timely access to potentially disease-modifying treatments. Despite intensive caregiving responsibilities, many caregivers report a relatively preserved quality of life, especially when financial support is available. While these exploratory findings should be interpreted with caution, they support the need for improved early detection and coordinated care for individuals with MLD. Within this broader context, systematic newborn screening in Poland may facilitate earlier diagnosis and timely access to gene therapy, potentially improving patient outcomes and reducing the long-term burden on families and the healthcare system. Not applicable
Keywords:
Caregiver burden
Family caregivers
Metachromatic leukodystrophy
Parents' experiences
Quality of life
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