The primary purpose of this study is to: * Document the developmental outcomes of individuals with Pompe disease treated with long-term enzyme-replacement therapy (ERT) through school-age (ages 6-18) using measures of cognitive functioning, academic skills, and speech and language abilities. * Investigate possible cognitive processing speed weaknesses using BrainBaseline neurocognitive assessment software. * Investigate the relationship between behavior and other developmental factors including speech and language ability and cognitive ability. * Explore if the use of selected iPad applications may help strengthen cognitive processing speed in children with Pompe disease
The study will last approximately 2-3 years. It includes 2-4 visits to Duke for developmental assessments. The baseline/year 1 visit may take place at Duke (may take 1-2 days) or remotely via iPad. The follow up 1/year 2 visit may take place at Duke (1-2 days) or remotely via an iPad, depending upon each child's particular situation.
Study Type
OBSERVATIONAL
Enrollment
22
Duke University Medical Center
Durham, North Carolina, United States
Relationship between daily behaviors in school-aged children with Pompe disease and observed speech patterns, as assessed by speech pathology.
Time frame: 2 years
Document the developmental outcomes and cognitive function of individuals with Pompe disease treated with long-term ERT through school-age (ages 6-18), as assessed by PPVT-4.
This outcome measure will be tested using measures testing cognitive function.
Time frame: 2 years
Document the developmental outcomes and language abilities of individuals with Pompe disease treated with long-term ERT through school-age (ages 6-18), as assessed by CELF-5.
This outcome measure will be tested using measures testing language abilities.
Time frame: 2 years
Document the developmental outcomes and cognitive function of individuals with Pompe disease treated with long-term ERT through school-age (ages 6-18), as assessed by Woodcock-Johnson Test of Achievement.
Time frame: 2 years
Document the developmental outcomes and cognitive function of individuals with Pompe disease treated with long-term ERT through school-age (ages 6-18), as assessed by Leiter.
Time frame: 2 years
Relationship between daily behaviors in school-aged children with Pompe disease and development, as assessed by Conners.
Time frame: 2 years
Relationship between daily behaviors in school-aged children with Pompe disease and development, as assessed by BRIEF-P.
Time frame: 2 years
Relationship between daily behaviors in school-aged children with Pompe disease and development, as assessed by Child Behavior Checklist.
Time frame: 2 years
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.