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Completed

NCT Number: NCT02950298

Pompe Telemedicine Developmental Study

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

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Key information

Conditions

Pompe Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Glycogen Storage Disease Glycogen Storage Disease II Glycogen Storage Disease Type II Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases

Age range

6 year–18 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Duke University Medical Center

Durham, North Carolina, 27710, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Age range 6-18 years
  • Diagnosis of classic Pompe disease by enzyme or molecular methods
  • Patient, parent, or legal guardian is willing and able to give written informed consent
  • English speaking child and care giver.

Exclusion criteria

Treatment and study plan

Primary outcomes

  1. Relationship between daily behaviors in school-aged children with Pompe disease and observed speech patterns, as assessed by speech pathology.

    Time frame: 2 years

  2. 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.

    Time frame: 2 years

    This outcome measure will be tested using measures testing cognitive function.

  3. 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.

    Time frame: 2 years

    This outcome measure will be tested using measures testing language abilities.

  4. 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

  5. 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

Secondary outcomes

  1. Relationship between daily behaviors in school-aged children with Pompe disease and development, as assessed by Conners.

    Time frame: 2 years

  2. Relationship between daily behaviors in school-aged children with Pompe disease and development, as assessed by BRIEF-P.

    Time frame: 2 years

  3. Relationship between daily behaviors in school-aged children with Pompe disease and development, as assessed by Child Behavior Checklist.

    Time frame: 2 years

Sponsors and collaborators

Lead sponsor

Duke University

Other

Registry information

Official study title

Developmental Outcomes of School-aged Children With Infantile-onset Pompe Disease: A Telemedicine Approach to Assessment and Cognitive Training

Important dates

Study start
2015
Primary completion
2021
Study completion
2021
First posted
Nov 1, 2016
Registry last updated
Oct 28, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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