Cognitive and Neurological Pathologies in Pompe Disease

Recruiting

• Conditions: Pompe Disease

• Registration Number: NCT04639336
• Lead Sponsor: Duke University

Brief Summary

The purpose of this study is to better understand the long-term health effects of Pompe disease and to determine if there are any abnormal changes in the brain and peripheral nerves. Additionally, the investigators will study the relationship between the abnormal changes in brain, nervous system findings, and developmental outcomes.

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.

Detailed Description

Not available

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Study Start: 2016-08-03
• Study First Submitted: 2020-11-06
• Study First Submitted QC: 2020-11-16
• Study First Posted: 2020-11-20
• Status Verified: 2023-11
• Last Update Submitted: 2023-11-08
• Last Update Posted: 2023-11-09
• Primary Completion: 2024-08
• Study Completion: 2024-08

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 45

Inclusion Criteria

• Subject has a confirmed and documented diagnosis of infantile Pompe Disease (IPD) or Late onset Pompe Disease (LOPD)

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Exclusion Criteria

• Refusal to give informed consent

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
To determine the involvement of central nervous system (CNS) pathology in long-term survivors of IPD and early diagnosed LOPD patients being treated with enzyme replacement therapy (ERT) as measure by neuroimaging.	up to 6 years

Secondary Outcome Measures

Name	Time	Method
To further investigate developmental outcomes, such as cognition, language, academic skills and fine motor skills, of children with Pompe disease as reported by patient performance report measures.	up to 6 years
To investigate the extent of muscle pathology, especially myopathy and neuropathy in the distal lower extremities, using screening questionnaires.	up to 6 years
To characterize the motor speech function in children with IPD and LOPD as reported auditory-perceptual and instrumental methods.	up to 6 years
To further investigate developmental outcomes, such as cognition, language, academic skills and fine motor skills, of children with Pompe disease as reported by parent report measures.	up to 6 years
To investigate the relationship between neuroimaging findings and developmental outcomes, over time, for children with Pompe disease, as reported by .	up to 6 years
To investigate the extent of muscle pathology, especially myopathy and neuropathy in the distal lower extremities, using quantitative muscle ultrasound.	up to 6 years

Trial Locations

Locations (1)

Duke University Medical Center; 🇺🇸 Durham, North Carolina, United States