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Pompe Telemedicine Developmental Study

NCT ID: NCT02950298

Last Updated: 2021-10-28

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

22 participants

Study Classification

OBSERVATIONAL

Study Start Date

2015-12-31

Study Completion Date

2021-03-03

Brief Summary

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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

Detailed Description

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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.

Conditions

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Pompe Disease Glycogen Storage Disease II

Keywords

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Pompe Glycogen Storage Disease II Telemedicine Duke University Medical Center

Study Design

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Observational Model Type

OTHER

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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.
Minimum Eligible Age

6 Years

Maximum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Duke University

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Priya Kishnani

Role: PRINCIPAL_INVESTIGATOR

Duke University

Locations

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Duke University Medical Center

Durham, North Carolina, United States

Site Status

Countries

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United States

References

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Mackey AP, Hill SS, Stone SI, Bunge SA. Differential effects of reasoning and speed training in children. Dev Sci. 2011 May;14(3):582-90. doi: 10.1111/j.1467-7687.2010.01005.x. Epub 2010 Nov 23.

Reference Type BACKGROUND
PMID: 21477196 (View on PubMed)

Jones HN, Muller CW, Lin M, Banugaria SG, Case LE, Li JS, O'Grady G, Heller JH, Kishnani PS. Oropharyngeal dysphagia in infants and children with infantile Pompe disease. Dysphagia. 2010 Dec;25(4):277-83. doi: 10.1007/s00455-009-9252-x. Epub 2009 Sep 10.

Reference Type BACKGROUND
PMID: 19763689 (View on PubMed)

Ebbink BJ, Aarsen FK, van Gelder CM, van den Hout JM, Weisglas-Kuperus N, Jaeken J, Lequin MH, Arts WF, van der Ploeg AT. Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy. Neurology. 2012 May 8;78(19):1512-8. doi: 10.1212/WNL.0b013e3182553c11. Epub 2012 Apr 25.

Reference Type BACKGROUND
PMID: 22539577 (View on PubMed)

Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS. Pompe disease diagnosis and management guideline. Genet Med. 2006 May;8(5):267-88. doi: 10.1097/01.gim.0000218152.87434.f3. No abstract available.

Reference Type BACKGROUND
PMID: 16702877 (View on PubMed)

Other Identifiers

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Pro00059526

Identifier Type: -

Identifier Source: org_study_id