Cognitive and Neurological Pathologies in Pompe Disease

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04639336

Acronym

CNS

Enrollment

Registered

2020-11-20

Start date

2016-08-03

Completion date

2029-03-01

Last updated

2026-03-04

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Pompe Disease

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

0 Years to 18 Years

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame
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

Measure	Time frame
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 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 characterize the motor speech function in children with IPD and LOPD as reported auditory-perceptual and instrumental methods.	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 screening questionnaires.	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

Countries

United States

Contacts

CONTACTGretchen Nichting

gretchen.nichting@duke.edu+1 919 660 0757

PRINCIPAL_INVESTIGATORPriya Kishnani, MD

Duke University

Outcome results