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Study Description

Mucopolysaccharidosis III (MPSIII) syndrome is characterized by a severe cognitive decline ending in dementia and death. MPSIII is also associated with a range of abnormal and disruptive behaviors that can include, but go well beyond, childhood noncompliance and oppositionality. The purpose of this study is to conduct a cross-sectional investigation to identify the behavioral phenotype and its neural basis in MPSIII. An overall goal of this research is to develop easily administered, sensitive and specific neurobehavioral markers to characterize the behavioral phenotype(s) of MPSIII, track their progression, and to delineate their possible neural substrates. The study looks to develop develop a sensitive and specific behavioral rating of disease progression in MPS III which can be used for clinical outcome studies.

The research objectives are:

  • Develop a measure for the use of health professionals to use in tracking MPSIII phenotypes and disease progression.
  • Test our model of MPSIII with objectively recorded behaviors in a well-defined experimental setting.
  • Elucidate the neural bases of MPSIII by correlating behavioral profiles with changes in brain structures through quantitative neuroimaging.
  • Determine the relationship between the loss of cognitive functions and development of behavioral abnormalities in MPSIII.

This is an observational pilot study that will enroll 45 individuals with MPS III Type A or B. Those participating in the study will be evaluated during a one-day assessment and chart review.

  • Study Weblinks:
  • Study Design:
    • Prospective Longitudinal Cohort
  • Study Type:
    • Longitudinal
    • Cross-Sectional
    • Observational
  • Number of study subjects that have individual-level data available through Authorized Access:
Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. The site also contains data dictionaries, variable summaries, documents, and truncated analyses, whenever available.

Study Inclusion/Exclusion Criteria

Inclusion criteria:

  • Verified diagnosis of MPS IIIA or MPS IIIB (proof of either mutation or enzymatic analysis prior to enrollment to study)
    • Between the ages of 2 and 35
    • Able to walk without support
  • MPS IH (post HCT) patients
    • Between 2 and 25 years
    • Able to walk without support

Exclusion Criteria:

  • Participants who are not able to cooperate or are unable to comply with study procedures
  • Participants, in the opinion of the investigator, with other participating limiting co-existing conditions such as severe hearing or visual impairment

Study History

  • Study Activated January 7, 2011
  • First Accrual January 11, 2011

Selected publications
Diseases/Traits Related to Study (MeSH terms)
Links to Related Genes
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Study Attribution