Clinical trial NCT02950298: Pompe Telemedicine Developmental Study
Official title: Developmental Outcomes of School-aged Children With Infantile-onset Pompe Disease: A Telemedicine Approach to Assessment and Cognitive Training
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Pompe Disease
Glycogen Storage Disease II
Keywords: Pompe
Glycogen Storage Disease II
Telemedicine
Duke University Medical Center
Lead sponsor: Duke University
Sponsor class: OTHER
First posted: 2016-11-01
Enrollment: 22
Sex: ALL
Minimum age (years): 6
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: This study is open to patients with classic Pompe disease.

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

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.

Eligibility criteria: 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:

Primary outcomes:
measure: Relationship between daily behaviors in school-aged children with Pompe disease and observed speech patterns, as assessed by speech pathology.
timeFrame: 2 years
measure: 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.
timeFrame: 2 years
measure: 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.
timeFrame: 2 years
measure: 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.
timeFrame: 2 years
measure: 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.
timeFrame: 2 years
Secondary outcomes:
measure: Relationship between daily behaviors in school-aged children with Pompe disease and development, as assessed by Conners.
timeFrame: 2 years
measure: Relationship between daily behaviors in school-aged children with Pompe disease and development, as assessed by BRIEF-P.
timeFrame: 2 years
measure: Relationship between daily behaviors in school-aged children with Pompe disease and development, as assessed by Child Behavior Checklist.
timeFrame: 2 years
Other outcomes:
Locations:
city: Durham
country: United States
facility: Duke University Medical Center
state: North Carolina
Study officials:
affiliation: Duke University
name: Priya Kishnani
role: PRINCIPAL_INVESTIGATOR
References:
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.
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.
citation: 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.
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. doi: 10.1097/01.gim.0000218152.87434.f3. No abstract available.