Pompe Telemedicine Developmental Study

October 27, 2021 updated by: Duke University

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

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

Study Overview

Status

Completed

Conditions

Detailed Description

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 (Actual)

22

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • North Carolina
      • Durham, North Carolina, United States, 27710
        • Duke University Medical Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

6 years to 18 years (Child, Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

This study is open to patients with classic Pompe disease.

Description

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:

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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 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.
Time Frame: 2 years
This outcome measure will be tested using measures testing cognitive function.
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.
Time Frame: 2 years
This outcome measure will be tested using measures testing language abilities.
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
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
2 years

Secondary Outcome Measures

Outcome Measure
Time Frame
Relationship between daily behaviors in school-aged children with Pompe disease and development, as assessed by Conners.
Time Frame: 2 years
2 years
Relationship between daily behaviors in school-aged children with Pompe disease and development, as assessed by BRIEF-P.
Time Frame: 2 years
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
2 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Duke University

Investigators

  • Principal Investigator: Priya Kishnani, Duke University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

December 1, 2015

Primary Completion (Actual)

March 1, 2021

Study Completion (Actual)

March 3, 2021

Study Registration Dates

First Submitted

June 22, 2016

First Submitted That Met QC Criteria

October 28, 2016

First Posted (Estimate)

November 1, 2016

Study Record Updates

Last Update Posted (Actual)

October 28, 2021

Last Update Submitted That Met QC Criteria

October 27, 2021

Last Verified

October 1, 2021

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Pro00059526

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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