Recruiting

Observational Study

Sponsor:

Duke University

Code:

NCT04639336

Conditions

Pompe Disease

Eligibility Criteria

Sex: All

Age: 0 - 18

Healthy Volunteers: Not accepted

Study Details

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.

Conditions

Pompe Disease

Study ID

NCT04639336

Start date

Aug 3, 2016

Status verified date

Mar, 2026

Completion date

Mar, 2029

Anticipated

Primary completion date

Mar, 2028

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 18

Healthy Volunteers: Not accepted

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 Design

Enrollment

45 participants

Anticipated

Interventions and Outcome Measures

Arms

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 and Locations

Central contacts

Gretchen Nichting

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

Locations

Duke University Medical Center

Recruiting

Durham, North Carolina, United States, 27710

Contacts

Gretchen Nichting

919-660-0757gretchen.nichting@duke.edu

Janet Blount

919 414 6998janet.blount@duke.edu

Principal Investigator:

Priya Kishnani, MD

More Information

Sponsor

Duke University

Last update posted

Mar 4, 2026

Last verified

Mar, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Duke University on 2026-03-04.