Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children
Condition: Mucopolysaccharidosis Type I (MPS I); Mucopolysaccharidosis Type II (MPS II); Mucopolysaccharidosis Type III (MPS III); Mucopolysaccharidosis Type VI (MPS VI); Krabbe Disease
MeSH terms: Mucopolysaccharidosis II; Leukodystrophy, Globoid Cell; Mucopolysaccharidoses; Lysosomal Storage Diseases; Mucopolysaccharidosis VI; Mucopolysaccharidosis I; Mucopolysaccharidosis III
Study type: Observational

Summary: 
      Hypothesis: Children diagnosed with a lysosomal disease will exhibit developmental, adaptive,
      and behavioral strengths and difficulties depending upon 1) biomedical risk factors (i.e. the
      specific genetic disorder responsible for the illness); 2) available modifying interventions,
      whether medical or behavioral; and 3) social risks in the children's families, neighborhoods
      and communities. A valid and reliable telephone-based surveillance system can successfully
      collect the data required to elucidate these developmental, adaptive and behavioral strengths
      and difficulties.
    

Detailed description: 
      Children who have lysosomal disease experience declines in health status and central nervous
      system integrity which result in motor, communication, self-care, learning and behavioral
      challenges. Medical interventions such as enzyme replacement therapy (ERT) and hematopoietic
      stem cell transplantation can improve the health and functioning of children with lysosomal
      disease. To date, however, there is no established system for evaluating the health status,
      developmental status, behavioral outcomes or functional outcomes of these preschool-aged
      children across time and differing settings. The primary objective of this study is to
      develop a valid and reliable telephone-based data-gathering system for obtaining health
      status data, developmental status data, behavioral outcomes data, and functional outcomes
      data which reflect skills of daily living including feeding, moving, communicating and
      responding to others.

      The secondary objective of this study is to assess the validity of several early-childhood
      standardized assessment tools as compared to the standard neuropsychological assessment
      battery specified by the Lysosomal Disease Network's 'Neurobehavioral Core.'

      The third objective of this study is to describe the impact of lysosomal disease upon the
      families of lysosomal disease-affected children.
    

Observational model: Cohort
Time perspective: Prospective
Sampling method: Non-Probability Sample
Study population: 
        1. Children aged 1 to 84 months who have been diagnosed with MPS types I, II, III or VI

          2. Children aged 1 to 84 months who have been diagnosed with some other lysosomal disease

          3. Children aged birth to 18 years who have been diagnosed with Krabbe disease, or who
             have a positive screening for Krabbe disease
      
Biospecimen description: 
      None collected; this is data-collection only, via a telephone-interview of children's
      care-givers.
    
Keywords: MPS I; MPS II; MPS III; MPS VI; Krabbe disease; globoid cell leukodystrophy; galactosylceramide lipidosis; mucopolysaccharidoses; mucopolysaccharidosis; Rare Diseases Clinical Research Network; Lysosomal Disease Network; enzyme replacement therapy; hematopoietic stem cell transplant; telephone-based surveillance; Hurler syndrome; Hunter syndrome; Scheie syndrome; Hurler-Scheie syndrome; Sanfilippo syndrome; Maroteaux-Lamy syndrome