Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III

Orphanet J Rare Dis. 2017 Jun 26;12(1):117. doi: 10.1186/s13023-017-0675-4.


Background: Mucopolysaccharidosis type III is a progressive, neurodegenerative lysosomal storage disorder for which there is currently no effective therapy. Though numerous potential therapies are in development, there are several challenges to conducting clinical research in this area. We seek to make recommendations on the approach to clinical research in MPS III, including the selection of outcome measures and trial endpoints, in order to improve the quality and impact of research in this area.

Results: An international workshop involving academic researchers, clinical experts and industry groups was held in June 2015, with presentations and discussions on disease pathophysiology, biomarkers, potential therapies and clinical outcome measures. A set of recommendations was subsequently prepared by a working group and reviewed by all delegates. We present a series of 11 recommendations regarding the conduct of clinical research, outcome measures and management of natural history data in Mucopolysaccharidosis type III.

Conclusions: Improving the quality of clinical research in Mucopolysaccharidosis type III will require an open, collaborative and systematic approach between academic researchers, clinicians and industry. Natural history data should be published as soon as possible and ideally collated in a central repository. There should be agreement on outcome measures and instruments for evaluation of clinical outcomes to maximise the effectiveness of current and future clinical research.

Keywords: Behaviour; Clinical trials; Cognitive assessment; Lysosomal storage disorders; Mucopolysaccharidosis Type III; Natural history; Quality of life; Sanfilippo syndrome; mucopolysaccharidoses.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Clinical Trials as Topic
  • Cognition / physiology
  • Enzyme Replacement Therapy
  • Female
  • Humans
  • Infant
  • Lysosomal Storage Diseases / drug therapy*
  • Lysosomal Storage Diseases / enzymology*
  • Lysosomal Storage Diseases / metabolism
  • Male
  • Mucopolysaccharidoses / metabolism
  • Mucopolysaccharidosis III / drug therapy*
  • Mucopolysaccharidosis III / enzymology*
  • Mucopolysaccharidosis III / metabolism
  • Quality of Life