A systematic review on the birth prevalence of metachromatic leukodystrophy
Abstract Background Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency in arylsulfatase A (ASA) activity arising primarily from ASA gene (ARSA) variants. Late-infantile, juvenile and adult clinical subtypes are defined by symptom onset at ≤ 2....
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| Format: | Article |
| Language: | English |
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BMC
2024-02-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-024-03044-w |
| _version_ | 1797273282351726592 |
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| author | Shun-Chiao Chang Aurore Bergamasco Mélanie Bonnin Teigna Arredondo Bisonó Yola Moride |
| author_facet | Shun-Chiao Chang Aurore Bergamasco Mélanie Bonnin Teigna Arredondo Bisonó Yola Moride |
| author_sort | Shun-Chiao Chang |
| collection | DOAJ |
| description | Abstract Background Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency in arylsulfatase A (ASA) activity arising primarily from ASA gene (ARSA) variants. Late-infantile, juvenile and adult clinical subtypes are defined by symptom onset at ≤ 2.5, > 2.5 to < 16 and ≥ 16 years, respectively. Epidemiological data were sought to address knowledge gaps and to inform decisions regarding the clinical development of an investigational drug. Methods To synthesize all available estimates of MLD incidence and birth prevalence worldwide and in selected countries, Ovid MEDLINE and Embase were searched systematically (March 11, 2022) using a population, intervention, comparator, outcome, time and setting framework, complemented by pragmatic searching to reduce publication bias. Where possible, results were stratified by clinical subtype. Data were extracted from non-interventional studies (clinical trials, non-clinical studies and case reports were excluded; reviews were used for snowballing only). Results Of the 31 studies included, 14 reported birth prevalence (13 countries in Asia–Pacific, Europe, the Middle East, North America and South America), one reported prevalence and none reported incidence. Birth prevalence per 100,000 live births ranged from 0.16 (Japan) to 1.85 (Portugal). In the three European studies with estimates stratified by clinical subtypes, birth prevalence was highest for late-infantile cases (0.31–1.12 per 100,000 live births). The distribution of clinical subtypes reported in cases diagnosed over various time periods in 17 studies varied substantially, but late-infantile and juvenile MLD accounted for at least two-thirds of cases in most studies. Conclusions This review provides a foundation for further analysis of the regional epidemiology of MLD. Data gaps indicate the need for better global coverage, increased use of epidemiological measures (e.g. prevalence estimates) and more stratification of outcomes by clinical and genetic disease subtype. |
| first_indexed | 2024-03-07T14:41:15Z |
| format | Article |
| id | doaj.art-e280d49d65bd428c906dc84f901eef34 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-03-07T14:41:15Z |
| publishDate | 2024-02-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-e280d49d65bd428c906dc84f901eef342024-03-05T20:20:48ZengBMCOrphanet Journal of Rare Diseases1750-11722024-02-0119111510.1186/s13023-024-03044-wA systematic review on the birth prevalence of metachromatic leukodystrophyShun-Chiao Chang0Aurore Bergamasco1Mélanie Bonnin2Teigna Arredondo Bisonó3Yola Moride4Takeda Development Center Americas, Inc.YOLARX Consultants, SASYOLARX Consultants, SASYOLARX Consultants, SASYOLARX Consultants, IncAbstract Background Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency in arylsulfatase A (ASA) activity arising primarily from ASA gene (ARSA) variants. Late-infantile, juvenile and adult clinical subtypes are defined by symptom onset at ≤ 2.5, > 2.5 to < 16 and ≥ 16 years, respectively. Epidemiological data were sought to address knowledge gaps and to inform decisions regarding the clinical development of an investigational drug. Methods To synthesize all available estimates of MLD incidence and birth prevalence worldwide and in selected countries, Ovid MEDLINE and Embase were searched systematically (March 11, 2022) using a population, intervention, comparator, outcome, time and setting framework, complemented by pragmatic searching to reduce publication bias. Where possible, results were stratified by clinical subtype. Data were extracted from non-interventional studies (clinical trials, non-clinical studies and case reports were excluded; reviews were used for snowballing only). Results Of the 31 studies included, 14 reported birth prevalence (13 countries in Asia–Pacific, Europe, the Middle East, North America and South America), one reported prevalence and none reported incidence. Birth prevalence per 100,000 live births ranged from 0.16 (Japan) to 1.85 (Portugal). In the three European studies with estimates stratified by clinical subtypes, birth prevalence was highest for late-infantile cases (0.31–1.12 per 100,000 live births). The distribution of clinical subtypes reported in cases diagnosed over various time periods in 17 studies varied substantially, but late-infantile and juvenile MLD accounted for at least two-thirds of cases in most studies. Conclusions This review provides a foundation for further analysis of the regional epidemiology of MLD. Data gaps indicate the need for better global coverage, increased use of epidemiological measures (e.g. prevalence estimates) and more stratification of outcomes by clinical and genetic disease subtype.https://doi.org/10.1186/s13023-024-03044-wArylsulfatase ABirth prevalenceEpidemiologyLysosomal storage diseaseMetachromatic leukodystrophySystematic review |
| spellingShingle | Shun-Chiao Chang Aurore Bergamasco Mélanie Bonnin Teigna Arredondo Bisonó Yola Moride A systematic review on the birth prevalence of metachromatic leukodystrophy Orphanet Journal of Rare Diseases Arylsulfatase A Birth prevalence Epidemiology Lysosomal storage disease Metachromatic leukodystrophy Systematic review |
| title | A systematic review on the birth prevalence of metachromatic leukodystrophy |
| title_full | A systematic review on the birth prevalence of metachromatic leukodystrophy |
| title_fullStr | A systematic review on the birth prevalence of metachromatic leukodystrophy |
| title_full_unstemmed | A systematic review on the birth prevalence of metachromatic leukodystrophy |
| title_short | A systematic review on the birth prevalence of metachromatic leukodystrophy |
| title_sort | systematic review on the birth prevalence of metachromatic leukodystrophy |
| topic | Arylsulfatase A Birth prevalence Epidemiology Lysosomal storage disease Metachromatic leukodystrophy Systematic review |
| url | https://doi.org/10.1186/s13023-024-03044-w |
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