Healthcare utilization and disease burden in children with metachromatic leukodystrophy in Germany
Abstract Background Metachromatic leukodystrophy (MLD) is a life-limiting neurodegenerative disease due to pathogenic variants in the ARSA gene. Patients experience severe neurological symptoms, developmental regression, and early death. Aim of the study was to analyze disease burden and healthcare...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-05-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-025-03637-z |
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| Summary: | Abstract Background Metachromatic leukodystrophy (MLD) is a life-limiting neurodegenerative disease due to pathogenic variants in the ARSA gene. Patients experience severe neurological symptoms, developmental regression, and early death. Aim of the study was to analyze disease burden and healthcare utilization in different stages of the disease in children with late infantile and juvenile MLD in Germany. Methods Out of a nationwide total cohort study (TC) (n = 83), we undertook telephone interviews in a representative follow-up cohort (FC) defined by advanced disease stages (n = 19). The FC allowed detailed long-term data of the disease in addition to cross-sectional data of the TC. Results Nearly all patients showed spasticity, truncal hypotonia and dysphagia, and about half of the patients developed epilepsy. Most children required special education; none finished regular school. Analysis of the FC showed that neuronal intestinal burden was extensive, including obstipation (57%), micturition problems (47%), and tube feeding (63%). Gallbladder polyposis was seen in 52%. General well-being did not strongly correlate with motor function, whereas pain was associated with reduced well-being. Baclofen, Omeprazole, Vigabatrin and Polyethyleneglycol were the most frequently used drugs. Patients took up to 15 different drugs daily. Altogether, 127 hospitalisations (485 treatment days) were registered in the FC (median age 9 years, median one inpatient stay per patient per year). Diagnostic procedures were main reasons for hospitalization (29 hospitalizations, 128 treatment days), and accounted for the main burden for families (68%). The median use of 15 different devices (maximum 29) throughout life illustrated a high burden of the disease. During disease course, there was a change from more “active” devices (e.g., walker) to more “passive” devices (e.g., form seat). Physical therapy was the most relevant therapy in advanced disease stages (100%), while occupational therapy or speech therapy primarily were used in early disease stages. State welfare benefits, home- and palliative care were used broadly. Conclusion Diagnostic and treatment routine pathways and sociomedical support in MLD require extensive resources. We provide detailed cross-sectional and long-term data of MLD-associated disease burden in different stages of disease. This data may serve as a reference when analyzing disease- and healthcare burden also after gene-/stem cell-therapy. |
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| ISSN: | 1750-1172 |