Mucopolysaccharidoses: Diagnosis, Treatment and Management 4.0
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".
Deadline for manuscript submissions: 20 March 2025 | Viewed by 2649
Special Issue Editors
2. Nemours Children's Health, Wilmington, DE 19803, USA
3. Faculty of Arts and Sciences, University of Delaware, Newark, DE 19716, USA
4. Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA 19144, USA
Interests: skeletal dysplasia; inactive project newborn screening; targeting therapy
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Interests: regulation of DNA replication; control of gene expression; oxidative stress in bacterial virulence; molecular mechanisms of mucopolysaccharidoses; development of novel therapeutic options
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2. Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil
Interests: inborn errors of metabolism, particularly lysosomal disorders
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Special Issue Information
Dear Colleagues,
Mucopolysaccharidoses (MPS) are relatively frequent as a group among inborn errors of a metabolism, with an overall incidence estimated to be approximately 1 in 20,000–25,000 births. If the clinical signs and symptoms appear, the excessive excretion of urinary glycosaminoglycans (GAGs) observed in MPS patients will provide a simple screening method with the identification of the specific enzyme deficiency. The development of therapeutic options for MPS, including hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT), has modified the natural history of many MPS types. In spite of the improvement in some tissues and organs, significant challenges remain unsolved, including the blood–brain barrier, brain and avascular cartilage, heart valves, and cornea. More recent approaches, such as intrathecal ERT, ERT with fusion proteins to cross the blood–brain barrier, gene therapy, substrate reduction therapy, chaperone therapy, and combined strategies, may provide a better outcome for MPS in the near future.
Therapies should start at a very early stage prior to irreversible bone lesion, and damage due to the severity of CNS involvement and skeletal dysplasia is associated with the levels of activity in daily life. As early diagnosis and early treatment are imperative to improve therapeutic efficacy, the inclusion of MPS in newborn screening programs should reduce the morbidity associated with MPS diseases. Additionally, we will provide insights into primary storage materials on GAGs (“GAGnomics”), the measurement of GAGs, the pathogenesis pathway with the accumulation of GAGs, and GAGs’ role as a biomarker.
As volume 1, 2 and 3 of the Special Issue “Mucopolysaccharidoses: Diagnosis, Treatment, and Management” proved successful, we have decided reopen this issue again in the International Journal of Molecular Sciences (https://www.mdpi.com/journal/ijms, ISSN 1422-0067, IF 5.924, JCR Category Q1). In this fourth Special Issue, we will summarize the diagnosis, treatment, and management of MPS, and will evaluate available treatments, such as ERT, HSCT, and future treatments including gene therapy, substrate reduction therapy, and chaperon therapy, in addition to describing their advantages and disadvantages. We will also assess the current clinical endpoints and biomarkers used in clinical trials.
Overall, this Special Issue illustrates an up-to-date overview of pathogenesis, diagnosis, biomarker, screening, and updated therapies, and their impact in MPS. It comprehensively covers many areas in the MPS field and appeals to a broad range of readers including physicians, scientists, students, pharmaceutical companies, and MPS communities.
Dr. Shunji Tomatsu
Prof. Dr. Grzegorz Wegrzyn
Prof. Dr. Roberto Giugliani
Guest Editors
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Keywords
- mucopolysaccharidoses
- glycosaminoglycans
- proteoglycans
- lysosomal dysfunction
- cell function
- metabolic disease
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