Actively Recruiting

Age: 0Years - 18Years
All Genders
NCT04639336

Cognitive and Neurological Pathologies in Pompe Disease

Led by Duke University · Updated on 2026-03-04

45

Participants Needed

1

Research Sites

656 weeks

Total Duration

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Sponsors

D

Duke University

Lead Sponsor

S

Sanofi

Collaborating Sponsor

AI-Summary

What this Trial Is About

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.

CONDITIONS

Official Title

Cognitive and Neurological Pathologies in Pompe Disease

Who Can Participate

Age: 0Years - 18Years
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Subject has a confirmed and documented diagnosis of infantile Pompe Disease (IPD) or Late onset Pompe Disease (LOPD)
Not Eligible

You will not qualify if you...

  • Refusal to give informed consent

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 1 location

1

Duke University Medical Center

Durham, North Carolina, United States, 27710

Actively Recruiting

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Research Team

G

Gretchen Nichting

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

1

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