The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review
Abstract Background Metachromatic leukodystrophy (MLD; OMIM 250100 and 249900) is a rare lysosomal storage disease caused by deficient arylsulfatase A activity, leading to accumulation of sulfatides in the nervous system. This systematic literature review aimed to explore the effect of MLD on the li...
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| Format: | Article |
| Language: | English |
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BMC
2024-03-01
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| Series: | European Journal of Medical Research |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s40001-024-01771-1 |
| _version_ | 1797247423266947072 |
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| author | Shun-Chiao Chang Christian Stefan Eichinger Polly Field |
| author_facet | Shun-Chiao Chang Christian Stefan Eichinger Polly Field |
| author_sort | Shun-Chiao Chang |
| collection | DOAJ |
| description | Abstract Background Metachromatic leukodystrophy (MLD; OMIM 250100 and 249900) is a rare lysosomal storage disease caused by deficient arylsulfatase A activity, leading to accumulation of sulfatides in the nervous system. This systematic literature review aimed to explore the effect of MLD on the lives of patients. Methods The Ovid platform was used to search Embase, MEDLINE, and the Cochrane Library for articles related to the natural history, clinical outcomes, and burden of illness of MLD; congress and hand searches were performed using ‘metachromatic leukodystrophy’ as a keyword. Of the 531 publications identified, 120 were included for data extraction following screening. A subset of findings from studies relating to MLD natural history and burden of illness (n = 108) are presented here. Results The mean age at symptom onset was generally 16–18 months for late-infantile MLD and 6–10 years for juvenile MLD. Age at diagnosis and time to diagnosis varied widely. Typically, patients with late-infantile MLD presented predominantly with motor symptoms and developmental delay; patients with juvenile MLD presented with motor, cognitive, and behavioral symptoms; and patients with adult MLD presented with cognitive symptoms and psychiatric and mood disorders. Patients with late-infantile MLD had more rapid decline of motor function over time and lower survival than patients with juvenile MLD. Commonly reported comorbidities/complications included ataxia, epilepsy, gallbladder abnormalities, incontinence, neuropathy, and seizures. Conclusions Epidemiology of MLD by geographic regions, quantitative cognitive data, data on the differences between early- and late-juvenile MLD, and humanistic or economic outcomes were limited. Further studies on clinical, humanistic (i.e., quality of life), and economic outcomes are needed to help inform healthcare decisions for patients with MLD. |
| first_indexed | 2024-04-24T19:58:27Z |
| format | Article |
| id | doaj.art-b0f4ee0747944b2ca1bbe6ae9c821918 |
| institution | Directory Open Access Journal |
| issn | 2047-783X |
| language | English |
| last_indexed | 2024-04-24T19:58:27Z |
| publishDate | 2024-03-01 |
| publisher | BMC |
| record_format | Article |
| series | European Journal of Medical Research |
| spelling | doaj.art-b0f4ee0747944b2ca1bbe6ae9c8219182024-03-24T12:14:08ZengBMCEuropean Journal of Medical Research2047-783X2024-03-0129112610.1186/s40001-024-01771-1The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature reviewShun-Chiao Chang0Christian Stefan Eichinger1Polly Field2Takeda Development Center Americas, Inc.Oxford PharmaGenesisOxford PharmaGenesisAbstract Background Metachromatic leukodystrophy (MLD; OMIM 250100 and 249900) is a rare lysosomal storage disease caused by deficient arylsulfatase A activity, leading to accumulation of sulfatides in the nervous system. This systematic literature review aimed to explore the effect of MLD on the lives of patients. Methods The Ovid platform was used to search Embase, MEDLINE, and the Cochrane Library for articles related to the natural history, clinical outcomes, and burden of illness of MLD; congress and hand searches were performed using ‘metachromatic leukodystrophy’ as a keyword. Of the 531 publications identified, 120 were included for data extraction following screening. A subset of findings from studies relating to MLD natural history and burden of illness (n = 108) are presented here. Results The mean age at symptom onset was generally 16–18 months for late-infantile MLD and 6–10 years for juvenile MLD. Age at diagnosis and time to diagnosis varied widely. Typically, patients with late-infantile MLD presented predominantly with motor symptoms and developmental delay; patients with juvenile MLD presented with motor, cognitive, and behavioral symptoms; and patients with adult MLD presented with cognitive symptoms and psychiatric and mood disorders. Patients with late-infantile MLD had more rapid decline of motor function over time and lower survival than patients with juvenile MLD. Commonly reported comorbidities/complications included ataxia, epilepsy, gallbladder abnormalities, incontinence, neuropathy, and seizures. Conclusions Epidemiology of MLD by geographic regions, quantitative cognitive data, data on the differences between early- and late-juvenile MLD, and humanistic or economic outcomes were limited. Further studies on clinical, humanistic (i.e., quality of life), and economic outcomes are needed to help inform healthcare decisions for patients with MLD.https://doi.org/10.1186/s40001-024-01771-1Metachromatic leukodystrophyMLDNatural historyBurden of illnessSystematic literature reviewLysosomal storage disease |
| spellingShingle | Shun-Chiao Chang Christian Stefan Eichinger Polly Field The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review European Journal of Medical Research Metachromatic leukodystrophy MLD Natural history Burden of illness Systematic literature review Lysosomal storage disease |
| title | The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review |
| title_full | The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review |
| title_fullStr | The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review |
| title_full_unstemmed | The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review |
| title_short | The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review |
| title_sort | natural history and burden of illness of metachromatic leukodystrophy a systematic literature review |
| topic | Metachromatic leukodystrophy MLD Natural history Burden of illness Systematic literature review Lysosomal storage disease |
| url | https://doi.org/10.1186/s40001-024-01771-1 |
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