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- Title
Therapeutic Options for Mucopolysaccharidoses: Current and Emerging Treatments.
- Authors
Sawamoto, Kazuki; Stapleton, Molly; Alméciga-Díaz, Carlos J.; Espejo-Mojica, Angela J.; Losada, Juan Camilo; Suarez, Diego A.; Tomatsu, Shunji
- Abstract
Mucopolysaccharidoses (MPS) are inborn errors of metabolism produced by a deficiency of one of the enzymes involved in the degradation of glycosaminoglycans (GAGs). Although taken separately, each type is rare. As a group, MPS are relatively frequent, with an overall estimated incidence of around 1 in 20,000–25,000 births. 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 blood–brain barrier (BBB) penetration and treatment of lesions in avascular cartilage, heart valves, and corneas. Newer approaches, such as intrathecal ERT, ERT with fusion proteins to cross the BBB, gene therapy, substrate reduction therapy (SRT), chaperone therapy, and some combination of these strategies may provide better outcomes for MPS patients in the near future. As early diagnosis and early treatment are imperative to improve therapeutic efficacy, the inclusion of MPS in newborn screening programs should enhance the potential impact of treatment in reducing the morbidity associated with MPS diseases. In this review, we evaluate available treatments, including ERT and HSCT, and future treatments, such as gene therapy, SRT, and chaperone therapy, and describe the advantages and disadvantages. We also assess the current clinical endpoints and biomarkers used in clinical trials.
- Subjects
THERAPEUTIC use of enzymes; MUCOPOLYSACCHARIDOSIS treatment; MOLECULAR chaperones; ARTICULAR cartilage; BLOOD-brain barrier; CORNEA; DISEASES; GENE therapy; HEART valves; HEMATOPOIETIC stem cell transplantation; MEDICAL screening; MUCOPOLYSACCHARIDOSIS; EARLY medical intervention; EARLY diagnosis; THERAPEUTICS
- Publication
Drugs, 2019, Vol 79, Issue 10, p1103
- ISSN
0012-6667
- Publication type
Article
- DOI
10.1007/s40265-019-01147-4