Pompe Telemedicine Developmental Study

NCT02950298 | Completed

• 1 other identifier: Pro00059526
• Study Type: observational
• Target: 22
• Locations: 1 country
• Sites: 1

Brief 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

Conditions

Pompe Disease; Glycogen Storage Disease II

Keywords

Pompe; Glycogen Storage Disease II; Telemedicine; Duke University Medical Center

Outcome Measures

Primary Outcomes (5)

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

  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.

  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.

  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.

  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.

  2 years

Secondary Outcomes (3)

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

  2 years

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

  2 years

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

  2 years

Eligibility Criteria

• Age: 6 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

This study is open to patients with classic Pompe disease.

You may qualify if:

• 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.

Sponsors & Collaborators

• Duke University: lead

Study Sites (1)

Duke University Medical Center

Durham, North Carolina, 27710, United States

Location

Related Publications (4)

• 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.

  PMID: 21477196 BACKGROUND

• 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.

  PMID: 19763689 BACKGROUND

• 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.

  PMID: 22539577 BACKGROUND

• 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.

  PMID: 16702877 BACKGROUND

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Condition Hierarchy (Ancestors)

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

Study Officials

• Priya Kishnani

  Duke University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 22, 2016
• First Posted: November 1, 2016
• Study Start: December 1, 2015
• Primary Completion: March 1, 2021
• Study Completion: March 3, 2021
• Last Updated: October 28, 2021

Record last verified: 2021-10

Locations

US (1)