Cognitive and Neurological Pathologies in Pompe Disease

Part of paid clinical trials in Durham, North Carolina.

Sponsor
Duke University
Study ID
NCT04639336
Status
Recruiting
Apply to this trial

Conditions

Eligibility Criteria

Sex
ALL
Age
0 Years - 18 Years
Healthy Volunteers
Not accepted

Study Details

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.

Key Dates

Start date
Aug 3, 2016
Status verified
Mar 2026
Primary completion
Mar 31, 2028
Completion
Mar 31, 2029

Study Design

Enrollment
45 participants (estimated)

Arms

  • Arm: Patients with Pompe disease

Primary Outcome Measure

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. [ Time Frame: up to 6 years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Duke University Medical CenterDurhamNorth Carolina27710
Gretchen Nichting
[email protected]
919-660-0757
Janet Blount
[email protected]
919 414 6998
Priya Kishnani, MD (PRINCIPAL_INVESTIGATOR)

Find similar trials in Durham, NC

By research site
Duke University Medical Center· Durham, NC

Related Studies