Pompe DiseaseNCT02950298
Pompe Telemedicine Developmental Study
An observational study of Pompe Disease and Glycogen Storage Disease II, run by Duke University at 1 site in United States.
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. Read more about this study
- Who is it for?
- Ages 6 to 18 years
- Conditions the study is for
- Pompe Disease, Glycogen Storage Disease II
- How many people
- 22 participants
- Where
- 1 siteUnited States
- Study dates
- Dec 2015to 3 Mar 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: This study is open to patients with classic Pompe disease.
Who may be able to join
- 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.
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
United States1 site
Duke University Medical Center
Durham, North Carolina, 27710
About this study
Official title: Developmental Outcomes of School-aged Children With Infantile-onset Pompe Disease: A Telemedicine Approach to Assessment and Cognitive Training
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
Read the 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.
- Conditions
- Pompe Disease, Glycogen Storage Disease II
- Keywords
- Pompe, Glycogen Storage Disease II, Telemedicine, Duke University Medical Center
- Medical subject headings
- Glycogen Storage Disease Type II
What is being measured
The primary outcome is the main question the study is designed to answer.
Relationship between daily behaviors in school-aged children with Pompe disease and observed speech patterns, as assessed by speech pathology.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 2 years
Secondary outcomes (3)
Relationship between daily behaviors in school-aged children with Pompe disease and development, as assessed by Conners.
Measured: 2 years
Relationship between daily behaviors in school-aged children with Pompe disease and development, as assessed by BRIEF-P.
Measured: 2 years
Relationship between daily behaviors in school-aged children with Pompe disease and development, as assessed by Child Behavior Checklist.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Nov 2016 (estimated)
- Study startDec 2015
- Primary completionMar 2021
- Study completion3 Mar 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Pompe DiseaseStudies of the same condition, open and under way.
- More trials run by Duke UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 22 participants (actual)
Sponsor and investigators
- Lead sponsor
- Duke University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Priya Kishnani, Principal investigator, Duke University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02950298
- Sponsor's protocol ID
- Pro00059526
- Status last verified
- Oct 2021
- First submitted
- 22 Jun 2016
- Last updated
- 28 Oct 2021
- Results posted
- No
Publications
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.
PubMed 21477196Jones 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.
PubMed 19763689Ebbink 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.
PubMed 22539577Kishnani 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.
PubMed 16702877
Study at a glance
From the registry record, last updated by the sponsor on 28 Oct 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Developmental Outcomes of School-aged Children With Infantile-onset Pompe Disease: A Telemedicine Approach to Assessment and Cognitive Training
- ClinicalTrials.gov ID
- NCT02950298
- Acronym / sponsor ID
- Pro00059526
- Conditions
- Pompe Disease, Glycogen Storage Disease II
- Keywords
- Pompe, Glycogen Storage Disease II, Telemedicine, Duke University Medical Center
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 22 participants (actual)
- Lead sponsor
- Duke UniversityUniversity, hospital or other
- Study start
- Dec 2015
- Primary completion
- Mar 2021 (actual)
- Study completion
- 3 Mar 2021 (actual)
- First posted
- 1 Nov 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Other
- Time perspective
- Prospective
Who may qualify
- Ages
- 6 to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- This study is open to patients with classic Pompe disease.
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Relationship between daily behaviors in school-aged children with Pompe disease and observed speech patterns, as assessed by speech pathology.
Time frame: 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.
Time frame: 2 years
This outcome measure will be tested using measures testing cognitive function.
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.
Time frame: 2 years
This outcome measure will be tested using measures testing language abilities.
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.
Time frame: 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.
Time frame: 2 years
3 secondary outcomes
Relationship between daily behaviors in school-aged children with Pompe disease and development, as assessed by Conners.
Time frame: 2 years
Relationship between daily behaviors in school-aged children with Pompe disease and development, as assessed by BRIEF-P.
Time frame: 2 years
Relationship between daily behaviors in school-aged children with Pompe disease and development, as assessed by Child Behavior Checklist.
Time frame: 2 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Oct 2021.
- Background: PubMed 21477196Mackey 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.
- Background: PubMed 19763689Jones 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.
- Background: PubMed 22539577Ebbink 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.
- Background: PubMed 16702877Kishnani 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Priya Kishnani principal investigator
Duke University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Pompe Disease and Glycogen Storage Disease II, run by Duke University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 28 Oct 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Relationship between daily behaviors in school-aged children with Pompe disease and observed speech patterns, as assessed by speech pathology. (time frame: 2 years). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02950298, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Oct 2021.