Critical review of current MPS guidelines and management

Molecular Genetics and Metabolism
Molly StapletonS Tomatsu

Abstract

Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders that impair degradation of glycosaminoglycans (GAG). The specific GAGs that accumulate depend on the type of MPS, leading to unique characteristic clinical features. Development of guidelines for treatment of MPS has traditionally been multifaceted and largely based on palliative care. In the last three decades, hematopoietic stem cell transplantation and enzyme replacement therapy have been developed based on experimental and clinical studies. Guidelines have been established with the accumulation of the clinical data from natural history of the disease and therapeutic consequences, mainly sponsored by pharmaceutical companies. In recent years, committees in three countries, Australia (2015), Japan (2017), and Brazil (2018) have adopted guidelines for the treatment of MPS II, sponsored and authorized by each government. As novel treatments for MPS including substrate reduction therapy, pharmacological chaperone therapy, and gene therapy become clinically available, it is increasingly necessary to establish the optimal guideline for each type of MPS, considering multiple factors including therapeutic efficacy, adverse effects, age, disease stage, prognosis, ...Continue Reading

Citations

Mar 9, 2019·BioDrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy·Emma H McCafferty, Lesley J Scott
May 18, 2020·International Journal of Molecular Sciences·Matthew PiechnikShunji Tomatsu
May 6, 2020·Diagnostics·Zhigang WangKaiying Shen
Mar 20, 2020·Diagnostics·Francyne KubaskiRoberto Giugliani
Sep 5, 2020·Orphanet Journal of Rare Diseases·Carla E M HollakSaco J de Visser
Jan 22, 2021·Interdisciplinary Sciences, Computational Life Sciences·Thiago CorrêaUrsula Matte
Apr 23, 2021·Journal of Applied Oral Science : Revista FOB·Natália Cristina Ruy CarneiroAna Cristina Borges-Oliveira

❮ Previous
Next ❯

Related Concepts

Related Feeds

CREs: Gene & Cell Therapy

Gene and cell therapy advances have shown promising outcomes for several diseases. The role of cis-regulatory elements (CREs) is crucial in the design of gene therapy vectors. Here is the latest research on CREs in gene and cell therapy.

Allogenic & Autologous Therapies

Allogenic therapies are generated in large batches from unrelated donor tissues such as bone marrow. In contrast, autologous therapies are manufactures as a single lot from the patient being treated. Here is the latest research on allogenic and autologous therapies.

Blood And Marrow Transplantation

The use of hematopoietic stem cell transplantation or blood and marrow transplantation (bmt) is on the increase worldwide. BMT is used to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Here is the latest research on bone and marrow transplantation.