Clinical Trials Logo

Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT02950298
Other study ID # Pro00059526
Secondary ID
Status Completed
Phase
First received
Last updated
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
Health authority
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:

Study Design


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
See also
  Status Clinical Trial Phase
Completed NCT01942590 - Safety and Efficacy of Clenbuterol in Individuals With Late-onset Pompe Disease and Receiving Enzyme Replacement Therapy Phase 1/Phase 2
Not yet recruiting NCT01409486 - Screening for Early Detection and Prevention of Pompe Disease in Israel Using Tandem Mass Spectrometry N/A
Completed NCT00976352 - Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe Disease Phase 1/Phase 2
Recruiting NCT01665326 - Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease
Completed NCT01758354 - Newborn Screening Assay of Pompe's Disease N/A
Recruiting NCT00231400 - Pompe Disease Registry Protocol
Recruiting NCT05687474 - Baby Detect : Genomic Newborn Screening
Recruiting NCT04476550 - Clinical Specimen Collection From Pompe Disease Patients
Completed NCT01380743 - Drug-drug Interaction Study Phase 2
Recruiting NCT05734521 - Avalglucosidase Alfa Pregnancy Study
Completed NCT02742298 - Pompe Disease QMUS and EIM N/A
Terminated NCT02185651 - A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated Reaction Phase 1
Completed NCT02654886 - Safety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease. N/A
Completed NCT02405598 - Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease Phase 4
Completed NCT00701129 - An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-naive Cross-Reacting Immunologic Material (CRIM[-]) Patients With Infantile-Onset Pompe Disease Phase 4
Completed NCT01451879 - Observational Study for Subjects With Pompe Disease Undergoing Immune Modulation Therapies N/A
Completed NCT02240407 - Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease Phase 1
Completed NCT05073783 - A Study to Assess the Safety of Myozyme® and of Aldurazyme® in Male and Female Participants of Any Age Group With Pompe Disease or With Mucopolysaccharidosis Type I (MPS I) in a Home-care Setting
Active, not recruiting NCT04093349 - A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE) Phase 1/Phase 2
Completed NCT02363153 - Diet and Exercise in Pompe Disease N/A