Quantitative neuroimaging in mucopolysaccharidoses clinical trials

Igor Nestrasil, Leonardo Vedolin

Research output: Contribution to journalReview articlepeer-review

8 Scopus citations

Abstract

The mucopolysaccharidosis (MPS) disorders are rare lysosomal storage disorders caused by mutations in lysosomal enzymes involved in glycosaminoglycan (GAG) degradation. The resulting intracellular accumulation of GAGs leads to widespread tissue and organ dysfunction. In addition to somatic signs and symptoms, patients with MPS can present with neurological manifestations such as cognitive decline, behavioral problems (e.g. hyperactivity and aggressiveness), sleep disturbances, and/or epilepsy. These are associated with significant abnormalities of the central nervous system (CNS), including white and gray matter lesions, brain atrophy, ventriculomegaly, and spinal cord compression. In order to effectively manage and develop therapies for MPS that target neurological disease, it is important to visualize and quantify these CNS abnormalities. This review describes optimal approaches for conducting magnetic resonance imaging assessments in multi-center clinical studies, and summarizes current knowledge from neuroimaging studies in MPS disorders. The content of the review is based on presentations and discussions on these topics that were held during a meeting of an international group of experts.

Original languageEnglish (US)
Pages (from-to)17-24
Number of pages8
JournalMolecular Genetics and Metabolism
Volume122
DOIs
StatePublished - Dec 2017

Bibliographical note

Funding Information:
This work was supported by BioMarin Pharmaceutical Inc.

Funding Information:
The authors are grateful to Ismar Healthcare NV for their assistance in the writing of this manuscript, which was funded by BioMarin Pharmaceutical Inc. The expert meeting in Stockholm was also sponsored by BioMarin Pharmaceutical Inc.

Publisher Copyright:
© 2017 Elsevier Inc.

Keywords

  • Diffusion tensor imaging
  • Lysosomal storage diseases
  • Magnetic resonance imaging
  • Mucopolysaccharidoses
  • Neuroimaging

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