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Therapeutic Options for Mucopolysaccharidoses: Current and Emerging Treatments

Kazuki Sawamoto1, Molly Stapleton1,2, Carlos J Alméciga-Díaz3

  • 1Nemours Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Rd, Wilmington, DE, 19899-0269, USA.

Drugs
|June 19, 2019
PubMed

Insights

Mucopolysaccharidoses (MPS) are rare genetic disorders impacting glycosaminoglycan (GAG) metabolism. While treatments like enzyme replacement therapy (ERT) and stem cell transplants exist, challenges like blood-brain barrier penetration remain, necessitating novel therapeutic strategies.

Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Mucopolysaccharidoses (MPS) are a group of rare genetic metabolic disorders caused by enzyme deficiencies in glycosaminoglycan (GAG) degradation.
  • Individually rare, MPS collectively affect approximately 1 in 20,000-25,000 births.
  • Current treatments like hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT) have improved outcomes but face limitations.

Purpose of the Study:

  • To review existing and emerging therapeutic strategies for Mucopolysaccharidoses.
  • To evaluate the advantages and disadvantages of various treatment modalities.
  • To assess current clinical endpoints and biomarkers used in MPS research.

Main Methods:

  • Literature review of current and novel therapeutic approaches for MPS.
  • Analysis of treatment efficacy, challenges, and potential benefits.
  • Evaluation of clinical trial endpoints and biomarkers.

Main Results:

  • Hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT) have shown efficacy but struggle with issues like blood-brain barrier (BBB) penetration and avascular tissue treatment.
  • Emerging therapies including intrathecal ERT, BBB-penetrating ERT, gene therapy, substrate reduction therapy (SRT), and chaperone therapy show promise for improved outcomes.
  • Early diagnosis and treatment are critical for therapeutic success.

Conclusions:

  • Significant challenges persist in treating MPS, particularly regarding BBB penetration and avascular tissues.
  • Novel therapeutic strategies offer potential for better patient outcomes in the future.
  • Inclusion of MPS in newborn screening programs is crucial for early diagnosis and timely intervention to maximize treatment efficacy.

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