ClinicalTrials.gov record NCT04639336
Cognitive and Neurological Pathologies in Pompe Disease
Cognitive and Neurological Pathologies in Pompe Disease
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This observational study follows children (0–18 years) with infantile or late-onset Pompe disease to learn about long-term brain, nerve, and developmental changes. Participants are followed for at least 3 years and up to 6 years, with clinic assessments, neuroimaging, developmental testing, and muscle ultrasound. The study does not assign experimental treatments; it collects clinical and testing information over time.
What it is studying. The study seeks to learn whether and how the central nervous system and peripheral nerves are affected over time in children with Pompe disease, and how any imaging changes relate to developmental outcomes such as cognition, language, academic skills, and motor/speech function.
What the researchers hope to learn. To describe central nervous system (CNS) involvement in long-term survivors of infantile Pompe disease and in early diagnosed late-onset Pompe disease patients receiving enzyme replacement therapy (as measured by neuroimaging). To track developmental outcomes (cognition, language, academic skills, fine motor skills) by performance and parent reports. To characterize motor speech function using auditory-perceptual and instrumental methods. To investigate relationships between neuroimaging findings and developmental outcomes and to assess the extent of muscle pathology, including myopathy and neuropathy in the distal lower extremities, using questionnaires and quantitative muscle ultrasound.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
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.
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
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
Study description and what participation involves
The registry record has no detailed description beyond the summary above.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
Participants are followed for at least 3 years and up to 6 years. They will attend clinic visits where clinical information is collected and undergo assessments such as brain imaging (MRI, magnetic resonance spectroscopy, diffusion tensor imaging), tests of cognition and academic skills, speech and language evaluations, physical therapy assessments, parent-report questionnaires, and quantitative muscle ultrasound. Children may complete performance-based testing and caregivers may complete report measures during the study.
How the study is structured. A prospective observational cohort: researchers collect clinical information from routine clinic visits plus scheduled assessments (brain imaging such as MRI/MRS/DTI, cognitive and speech/language testing, physical therapy measures, questionnaires, and quantitative muscle ultrasound). Participants are followed for 3–6 years; no experimental treatment is assigned by the study.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on Pompe disease
Important dates
- Study start
- Aug 3, 2016
- Primary completion
- March 2028 (estimated)
- Study completion
- March 2029 (estimated)
- Target enrollment
- 45 participants (estimated)
- Last updated on registry
- Mar 4, 2026
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- Duke University
- Collaborators
- Sanofi
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Gretchen Nichting 📞 +1 919 660 0757 ✉ gretchen.nichting@duke.edu
Participating sites (1)
- Duke University Medical CenterRecruiting
Durham, North Carolina, 27710 · United States
- Gretchen Nichting · 919-660-0757 · gretchen.nichting@duke.edu
- Janet Blount · 919 414 6998 · janet.blount@duke.edu
- Priya Kishnani, MD
Terms used on this page · explanations by MedicalUpdates.ai
- magnetic resonance imaging
- A scan that uses magnets and radio waves, not X-rays, to make detailed pictures of the inside of the body. Some implants and metal objects mean a person cannot have one.
- informed consent
- The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
- Inclusion Criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
- Exclusion Criteria
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
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