Pompe Telemedicine Developmental Study

Pompe Disease Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02950298
• Other study ID #: Pro00059526
• Status: Completed
• Start date: December 2015
• Est. completion date: March 3, 2021

Study information

• Verified date: October 2021
• Source: Duke University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 22
• Est. completion date: March 3, 2021
• Est. primary completion date: March 2021
• Accepts healthy volunteers: No
• Gender: All
• Age group: 6 Years to 18 Years

Eligibility

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:

Related Conditions & MeSH terms

• Glycogen Storage Disease
• Glycogen Storage Disease II
• Glycogen Storage Disease Type II
• Pompe Disease

Locations

Country	Name	City	State
United States	Duke University Medical Center	Durham	North Carolina

Sponsors (1)

Lead Sponsor	Collaborator
Duke University

Country where clinical trial is conducted

United States, 

References & Publications (4)

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. — View Citation

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. — View Citation

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. Erratum in: Genet Med. 2006 Jun;8(6):382. ACMG Work Group on Management of Pompe Disease [removed]; Case, Laura [corrected to Case, Laura E]. — View Citation

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Relationship between daily behaviors in school-aged children with Pompe disease and observed speech patterns, as assessed by speech pathology.		2 years
Primary	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.	2 years
Primary	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.	2 years
Primary	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.		2 years
Primary	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.		2 years
Secondary	Relationship between daily behaviors in school-aged children with Pompe disease and development, as assessed by Conners.		2 years
Secondary	Relationship between daily behaviors in school-aged children with Pompe disease and development, as assessed by BRIEF-P.		2 years
Secondary	Relationship between daily behaviors in school-aged children with Pompe disease and development, as assessed by Child Behavior Checklist.		2 years