Cognitive and Neurological Pathologies in Pompe Disease
NCT ID: NCT04639336
Last Updated: 2025-04-17
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
45 participants
OBSERVATIONAL
2016-08-03
2029-03-31
Brief Summary
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The investigators will collect clinical information from clinic visits as well as assessments such as neuroimaging (magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), and diffusion tensor imaging (DTI)), cognition, academic skills, speech and language function, physical therapy and quantitative muscle ultrasound. Subjects will be in this study for at least 3 years and up to 6 years.
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Detailed Description
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Conditions
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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Patients with Pompe disease
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
Exclusion Criteria
0 Years
18 Years
ALL
No
Sponsors
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Sanofi
INDUSTRY
Duke University
OTHER
Responsible Party
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Principal Investigators
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Priya Kishnani, MD
Role: PRINCIPAL_INVESTIGATOR
Duke University
Locations
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Duke University Medical Center
Durham, North Carolina, United States
Countries
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Central Contacts
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Facility Contacts
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References
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Crisp KD, Neel AT, Amarasekara S, Marcus J, Nichting G, Korlimarla A, Kishnani PS, Jones HN. Assessment of Dysphonia in Children with Pompe Disease Using Auditory-Perceptual and Acoustic/Physiologic Methods. J Clin Med. 2021 Aug 16;10(16):3617. doi: 10.3390/jcm10163617.
Korlimarla A, Spiridigliozzi GA, Crisp K, Herbert M, Chen S, Malinzak M, Stefanescu M, Austin SL, Cope H, Zimmerman K, Jones H, Provenzale JM, Kishnani PS. Novel approaches to quantify CNS involvement in children with Pompe disease. Neurology. 2020 Aug 11;95(6):e718-e732. doi: 10.1212/WNL.0000000000009979. Epub 2020 Jun 9.
Korlimarla A, Spiridigliozzi GA, Stefanescu M, Austin SL, Kishnani PS. Behavioral, social and school functioning in children with Pompe disease. Mol Genet Metab Rep. 2020 Aug 5;25:100635. doi: 10.1016/j.ymgmr.2020.100635. eCollection 2020 Dec.
Other Identifiers
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Pro00072329
Identifier Type: -
Identifier Source: org_study_id
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