Understanding brain and nerve changes in Pompe disease
Cognitive and Neurological Pathologies in Pompe Disease
This study looks at how Pompe disease affects the brain and nerves over time to see what changes happen and how they relate to everyday skills in people living with the condition.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 45 (estimated) |
| Ages | 0 Years to 18 Years |
| Sex | All |
| Sponsor | Duke University Academic / other |
| Locations | 1 site (Durham, North Carolina) |
| Trial ID | NCT04639336 on ClinicalTrials.gov |
What this trial studies
This observational study aims to investigate the long-term health effects of Pompe disease, focusing on identifying abnormal changes in the brain and peripheral nerves. Researchers will collect clinical data through various assessments, including neuroimaging techniques like MRI, MRS, and DTI, as well as evaluations of cognitive, academic, speech, and physical therapy outcomes. Participants will be monitored over a period of 3 to 6 years to establish correlations between neurological findings and developmental outcomes.
Who should consider this trial
Good fit: Ideal candidates include individuals with a confirmed diagnosis of either infantile Pompe Disease or late-onset Pompe Disease.
Not a fit: Patients who refuse to give informed consent will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of Pompe disease and lead to improved management strategies for affected patients.
How similar studies have performed: While there have been studies on Pompe disease, this specific focus on cognitive and neurological pathologies is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Subject has a confirmed and documented diagnosis of infantile Pompe Disease (IPD) or Late onset Pompe Disease (LOPD) Exclusion Criteria: * Refusal to give informed consent
Where this trial is running
Durham, North Carolina
- Duke University Medical Center — Durham, North Carolina, United States (Recruiting)
Study contacts
- Principal investigator: Priya Kishnani, MD — Duke University
- Study coordinator: Gretchen Nichting
- Email: gretchen.nichting@duke.edu
- Phone: +1 919 660 0757
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.