Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs
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Peter C J I Schielen1, Evelien A Kemper2, Michael H Gelb3
1Reference Laboratory for Neonatal Screening, Centre for Infectious Diseases Research, Diagnostics and Screening, National Institute for Public Health and the Environment, 3720 BA Bilthoven, The Netherlands.
Insights
Newborn screening for lysosomal storage diseases (LSDs) is becoming a reality. Advances in analytical methods and therapies are paving the way for widespread LSD screening programs globally.
Area of Science:
- Medical Genetics
- Biochemistry
- Public Health
Background:
- Newborn screening (NBS) is expanding to include lysosomal storage diseases (LSDs).
- Technological advancements in analytical and second-tier screening methods are crucial for LSD detection.
- Emerging therapeutic options for LSDs support the feasibility of NBS programs.
Purpose of the Study:
- To review the current landscape of newborn screening for LSDs.
- To outline available and developing screening methodologies.
- To discuss therapeutic advancements and candidate LSDs for screening.
Main Methods:
- Review of current literature on LSD screening methods.
- Analysis of existing therapeutic strategies for LSDs.
- Evaluation of LSDs included in pilot or routine screening programs worldwide.
Main Results:
- Analytical and second-tier screening methods for LSDs are advancing rapidly.
- Therapeutic interventions for several LSDs are becoming available.
- Specific LSDs are identified as prime candidates for inclusion in NBS programs.
Conclusions:
- Newborn screening for LSDs is a feasible and developing area in public health.
- Continued research in screening technologies and therapeutics will drive implementation.
- Global efforts are underway to establish routine LSD screening programs.
Abstract:
Newborn screening for lysosomal storage diseases (LSDs) is increasingly being considered as an option. The development of analytical screening methods, of second-tier methods, and of therapeutic possibilities, are paving the way for routine screening for LSDs in the coming years. Here, we give a brief description of the current status quo, what screening methods are currently available or are in the pipeline, what is the current status of therapeutic possibilities for LSDs, what LSDs are the most obvious candidates for introduction in screening programs, and what LSDs are already part of regional or national pilot or routine screening programs worldwide.
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