Mucopolysaccharidoses: Diagnosis, Treatment, and Management, Volume 3
A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".
Deadline for manuscript submissions: closed (31 July 2022) | Viewed by 4097
Special Issue Editors
Interests: mucopolysaccharidosis
Special Issues, Collections and Topics in MDPI journals
2. Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil
Interests: inborn errors of metabolism, particularly lysosomal disorders
Special Issues, Collections and Topics in MDPI journals
Interests: regulation of DNA replication; control of gene expression; oxidative stress in bacterial virulence; molecular mechanisms of mucopolysaccharidoses; development of novel therapeutic options
Special Issues, Collections and Topics in MDPI journals
Interests: mucopolysaccharidoses
Special Issues, Collections and Topics in MDPI journals
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
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Mucopolysaccharidoses (MPSs) are a relatively frequent a group of inborn errors of metabolism, with an overall incidence estimated around 1 in 20,000–25,000 births. If the clinical signs and symptoms appear, the excessive excretion of urinary glycosaminoglycans (GAGs) seen in MPS patients provide a simple screening method with the identification of the specific enzyme deficiency. The development of therapeutic options for MPSs, including hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT), has modified the natural history of many MPS types. Despite the improvement in some tissues and organs, significant challenges remain unsolved, including blood–brain barrier, brain and avascular cartilage, heart valves, and cornea. Newer 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 MPSs 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 level of activity during daily life. As early diagnosis and early treatment are imperative to improve therapeutic efficacy, the inclusion of MPSs 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 biomarkers.
In this Special Issue, we will summarize the diagnosis, treatment, and management of MPSs, and will evaluate available treatments such as ERT; HSCT; and future treatments including gene therapy, substrate reduction therapy, and chaperone therapy, and will describe their advantages and disadvantages. We will also assess the current clinical endpoints and biomarkers used in clinical trials.
Overall, this Special Issue will provide an up-to-date overview of pathogenesis, diagnosis, biomarker, screening, and updated therapies and their impact in MPSs. It will comprehensively cover many areas in the field of MPSs, and appeals to a broad range of readers including physicians, scientists, students, pharmaceutical companies, and MPS communities.
Related Special Issues:
https://www.mdpi.com/journal/diagnostics/special_issues/MPS-joint
https://www.mdpi.com/journal/diagnostics/special_issues/MPS-joint_v2
Prof. Dr. Brian Bigger
Prof. Dr. Roberto Giugliani
Prof. Dr. Grzegorz Wegrzyn
Dr. Julia B. Hennermann
Dr. Shunji Tomatsu
Guest Editors
Manuscript Submission Information
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