What is the experience with outcome in terms of survival and success of BMT or HSCT for MPS IV and MPS VI?
Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:152-8.
Therapy for mucopolysaccharidosis VI: (Maroteaux-Lamy syndrome) present status and prospects.
Giugliani R, Herber S, Lapagesse L, de Pinto C, Baldo G.
Abstract
Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disorder caused by deficient activity of Arylsulphatase B (ARSB). The disease is progressive and multisystemic, usually leading to death in the first decades of life. In addition to supportive management, specific treatments for MPS VI are the hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT). Both are effective for some aspects of the disease, but fail in correcting important clinical features, such as bone deformities and heart valve thickening. Based on that, new treatments are currently being tested to be used alone or in combination with the current therapies. Here we summarize some of these new approaches and the preliminary results obtained, reporting their limitations and indicating possible future trends in MPS VI treatment. We discuss intrathecal ERT, gene therapy and therapies based on anti-inflammatory molecules, among other approaches. Finally, we highlight the importance of early treatment and diagnosis for a better outcome in these patients.
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