Toileting Abilities Survey as a surrogate outcome measure for cognitive function: Findings from neuronopathic mucopolysaccharidosis II patients treated with idursulfase and intrathecal idursulfase

Molecular Genetics and Metabolism Reports

Kim Stephens¹  Elizabeth R. Jalazo²  Kendra J. Bjoraker³  Lloyd J. Edwards⁴  Christian J. Hendriksz⁵  Melissa J. Hogan⁶  Erin Smith⁷ 

[1] Corresponding author.;Backpack Health, a Konica Minolta Service, Boston, MA, USA;Department of Biostatistics, University of Alabama at Birmingham, Birmingham, AL, USA;Department of Paediatrics and Child Health at the Steve Biko Academic Unit, University of Pretoria, South Africa;Division of Genetics and Metabolism, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA;Doulots, LLC, Thompson's Station, TN, USA;Inclusive Thinking, LLC, Knoxville, TN, USA;

关键词: Hunter syndrome;    Mucopolysaccharidosis;    Intrathecal;    Idursulfase;    Activities of daily living;    Toileting;   

DOI  :  

来源: DOAJ

【 摘 要 】

An outcome measure of toileting skills, the Toileting Abilities Survey or TAS, with sensitivity to detect change in a neurodegenerative disorder such as MPS II, was developed. The TAS was used in a research study of patients (n = 86) with the neuronopathic form of MPS II to measure treatment benefit of intrathecal idursulfase. Treatment with idursulfase and intrathecal idursulfase is associated with significantly higher individual and overall toileting skills versus treatment with idursulfase alone.

【 授权许可】

Unknown